SH2B3 (SH2B adaptor protein 3) - Rat Genome Database

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Gene: SH2B3 (SH2B adaptor protein 3) Homo sapiens
Analyze
Symbol: SH2B3
Name: SH2B adaptor protein 3
RGD ID: 68607
HGNC Page HGNC:29605
Description: Predicted to enable stem cell factor receptor binding activity and transmembrane receptor protein tyrosine kinase adaptor activity. Involved in erythrocyte development; negative regulation of receptor signaling pathway via JAK-STAT; and negative regulation of response to cytokine stimulus. Acts upstream of or within with a negative effect on thrombopoietin-mediated signaling pathway. Predicted to be located in cytosol. Predicted to be active in plasma membrane. Implicated in colorectal cancer; essential thrombocythemia; familial erythrocytosis 1; myelofibrosis; and type 1 diabetes mellitus. Biomarker of colorectal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IDDM20; LNK; lymphocyte-specific adapter protein Lnk; SH2B adapter protein 3; signal transduction protein Lnk; truncated SH2B3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812111,404,730 - 111,451,623 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12111,405,923 - 111,451,623 (+)EnsemblGRCh38hg38GRCh38
GRCh3712111,843,727 - 111,889,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612110,328,135 - 110,373,810 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412110,306,471 - 110,352,146NCBI
Celera12111,470,186 - 111,515,861 (+)NCBICelera
Cytogenetic Map12q24.12NCBI
HuRef12108,858,506 - 108,903,968 (+)NCBIHuRef
CHM1_112111,811,712 - 111,857,391 (+)NCBICHM1_1
T2T-CHM13v2.012111,385,588 - 111,432,181 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP)
butan-1-ol  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
hexachlorobenzene  (ISO)
indometacin  (EXP)
inulin  (ISO)
isobutanol  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
oxaliplatin  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (EXP)
piroxicam  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
prothioconazole  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
plasma membrane  (IBA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal bone marrow cell morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal platelet morphology  (IAGP)
Abnormality of thrombocytes  (IAGP)
Acute leukemia  (IAGP)
Adult onset  (IAGP)
Amaurosis fugax  (IAGP)
Anti-thyroid peroxidase antibody positivity  (IAGP)
Arterial thrombosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bruising susceptibility  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Erythromelalgia  (IAGP)
Exertional dyspnea  (IAGP)
Extramedullary hematopoiesis  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Headache  (IAGP)
Hemophagocytosis  (IAGP)
Hepatic vein thrombosis  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
Hypertension  (IAGP)
Impaired ADP-induced platelet aggregation  (IAGP)
Impaired collagen-induced platelet aggregation  (IAGP)
Impaired epinephrine-induced platelet aggregation  (IAGP)
Increased circulating hemoglobin concentration  (IAGP)
Increased hematocrit  (IAGP)
Increased megakaryocyte count  (IAGP)
Increased red blood cell mass  (IAGP)
Infantile onset  (IAGP)
Insomnia  (IAGP)
Leukocytosis  (IAGP)
Megakaryocyte nucleus hyperlobulation  (IAGP)
Migraine  (IAGP)
Multiple myeloma  (IAGP)
Myelodysplasia  (IAGP)
Myelofibrosis  (IAGP)
Myeloproliferative disorder  (IAGP)
Myocardial infarction  (IAGP)
Pallor  (IAGP)
Paresthesia  (IAGP)
Peripheral thrombosis  (IAGP)
Plethora  (IAGP)
Prolonged bleeding time  (IAGP)
Purpura  (IAGP)
Splenomegaly  (IAGP)
Thrombocytosis  (IAGP)
Transient ischemic attack  (IAGP)
Typified by somatic mosaicism  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. SH2B3 Is a Genetic Determinant of Cardiac Inflammation and Fibrosis. Flister MJ, etal., Circ Cardiovasc Genet. 2015 Apr;8(2):294-304. doi: 10.1161/CIRCGENETICS.114.000527. Epub 2015 Jan 27.
2. Genetic analysis of adult-onset autoimmune diabetes. Howson JM, etal., Diabetes. 2011 Oct;60(10):2645-53. Epub 2011 Aug 26.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. LNK protein: Low expression in human colorectal carcinoma and relationship with tumor invasion. Pan J, etal., Biomed Pharmacother. 2020 Jan;121:109467. doi: 10.1016/j.biopha.2019.109467. Epub 2019 Nov 6.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. Plagnol V, etal., PLoS Genet. 2011 Aug;7(8):e1002216. doi: 10.1371/journal.pgen.1002216. Epub 2011 Aug 4.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Mutation of SH2B3 (LNK), a genome-wide association study candidate for hypertension, attenuates Dahl salt-sensitive hypertension via inflammatory modulation. Rudemiller NP, etal., Hypertension. 2015 May;65(5):1111-7. doi: 10.1161/HYPERTENSIONAHA.114.04736. Epub 2015 Mar 16.
12. Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. Timofeeva MN, etal., Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286.
13. Creation and preliminary characterization of a leptin knockout rat. Vaira S, etal., Endocrinology. 2012 Nov;153(11):5622-8. doi: 10.1210/en.2012-1462. Epub 2012 Sep 4.
Additional References at PubMed
PMID:8649391   PMID:9169414   PMID:10799879   PMID:11163396   PMID:11805142   PMID:12477932   PMID:16273093   PMID:16644735   PMID:17007883   PMID:17554300   PMID:18029348   PMID:18311140  
PMID:18588518   PMID:18593762   PMID:18805825   PMID:19073967   PMID:19198610   PMID:19293402   PMID:19322201   PMID:19375649   PMID:19430479   PMID:19430480   PMID:19430483   PMID:19693089  
PMID:19838195   PMID:19860791   PMID:19862010   PMID:19913121   PMID:19951419   PMID:20139978   PMID:20190752   PMID:20404132   PMID:20453842   PMID:20508602   PMID:20546165   PMID:20560212  
PMID:20586186   PMID:20647273   PMID:20724988   PMID:20843259   PMID:20971364   PMID:21045733   PMID:21060863   PMID:21310211   PMID:21378990   PMID:21383967   PMID:21496118   PMID:21794913  
PMID:21873635   PMID:21909115   PMID:21922527   PMID:21990094   PMID:22028877   PMID:22139419   PMID:22441983   PMID:22493691   PMID:22561518   PMID:22916186   PMID:22973453   PMID:23222517  
PMID:23417110   PMID:23812944   PMID:23844121   PMID:23908464   PMID:24026423   PMID:24262325   PMID:24297922   PMID:24390342   PMID:24586183   PMID:24704825   PMID:24728074   PMID:24768677  
PMID:24816252   PMID:25009551   PMID:25231511   PMID:25814554   PMID:26319099   PMID:26522763   PMID:26535636   PMID:26621817   PMID:26660394   PMID:26717315   PMID:26974155   PMID:27111338  
PMID:27216218   PMID:27322554   PMID:27430239   PMID:27459314   PMID:27831681   PMID:28382505   PMID:28703133   PMID:28865245   PMID:29749755   PMID:30005852   PMID:30103202   PMID:30291855  
PMID:30333305   PMID:30508957   PMID:30624993   PMID:30755420   PMID:30816328   PMID:31110180   PMID:31111043   PMID:31173385   PMID:31292504   PMID:31301301   PMID:31428775   PMID:31624844  
PMID:31980649   PMID:33495419   PMID:33961781   PMID:34740959   PMID:35748872   PMID:36578217   PMID:36622793   PMID:36899493   PMID:37981895   PMID:38152053   PMID:38377486   PMID:38417019  
PMID:38723947  


Genomics

Comparative Map Data
SH2B3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812111,404,730 - 111,451,623 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12111,405,923 - 111,451,623 (+)EnsemblGRCh38hg38GRCh38
GRCh3712111,843,727 - 111,889,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612110,328,135 - 110,373,810 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412110,306,471 - 110,352,146NCBI
Celera12111,470,186 - 111,515,861 (+)NCBICelera
Cytogenetic Map12q24.12NCBI
HuRef12108,858,506 - 108,903,968 (+)NCBIHuRef
CHM1_112111,811,712 - 111,857,391 (+)NCBICHM1_1
T2T-CHM13v2.012111,385,588 - 111,432,181 (+)NCBIT2T-CHM13v2.0
Sh2b3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395121,953,544 - 121,975,706 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5121,953,551 - 121,975,709 (-)EnsemblGRCm39 Ensembl
GRCm385121,815,481 - 121,837,645 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5121,815,488 - 121,837,646 (-)EnsemblGRCm38mm10GRCm38
MGSCv375122,267,224 - 122,286,810 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365122,077,832 - 122,097,418 (-)NCBIMGSCv36mm8
Celera5118,907,377 - 118,942,299 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map561.99NCBI
Sh2b3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81240,391,755 - 40,414,336 (+)NCBIGRCr8
mRatBN7.21234,731,934 - 34,753,617 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1234,731,911 - 34,753,616 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1235,904,822 - 35,926,500 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01236,516,036 - 36,537,714 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01235,568,505 - 35,590,183 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01240,261,990 - 40,265,757 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1240,244,081 - 40,265,757 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01242,132,947 - 42,136,714 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41235,954,679 - 35,958,446 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11235,818,066 - 35,821,834 (+)NCBI
Celera1236,414,671 - 36,418,438 (+)NCBICelera
Cytogenetic Map12q16NCBI
Sh2b3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554828,096,160 - 8,097,765 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554828,079,905 - 8,100,791 (+)NCBIChiLan1.0ChiLan1.0
SH2B3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210119,471,325 - 119,518,001 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112119,467,715 - 119,514,391 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012108,977,344 - 109,024,029 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112112,371,797 - 112,418,746 (+)NCBIpanpan1.1PanPan1.1panPan2
SH2B3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1269,033,851 - 9,073,095 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl269,005,281 - 9,070,204 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha269,206,973 - 9,235,670 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0269,303,831 - 9,332,542 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl269,292,891 - 9,329,651 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1269,259,823 - 9,288,511 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0269,322,052 - 9,350,491 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0269,275,536 - 9,304,251 (+)NCBIUU_Cfam_GSD_1.0
Sh2b3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118155,352,543 - 155,375,181 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365584,104,534 - 4,123,869 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365584,103,898 - 4,126,883 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH2B3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1432,623,286 - 32,664,606 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11432,623,286 - 32,664,606 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21434,618,865 - 34,660,151 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SH2B3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111106,657,601 - 106,703,940 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11106,670,685 - 106,700,619 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037138,394,084 - 138,440,116 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sh2b3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474720,730,751 - 20,759,625 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474720,729,142 - 20,759,631 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SH2B3
96 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) deletion Primary myelofibrosis [RCV000023397] Chr12:111418745..111418749 [GRCh38]
Chr12:111856549..111856553 [GRCh37]
Chr12:12q24.12		 pathogenic|other
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) single nucleotide variant Hepatoblastoma [RCV001843460]|Hereditary cancer [RCV004700273]|Primary myelofibrosis [RCV002466413]|Thrombocythemia 1 [RCV000023398]|not provided [RCV001529953] Chr12:111418767 [GRCh38]
Chr12:111856571 [GRCh37]
Chr12:12q24.12		 pathogenic|likely benign|uncertain significance|other
NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV000023399] Chr12:111418767 [GRCh38]
Chr12:111856571 [GRCh37]
Chr12:12q24.12		 pathogenic|affects|other
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
NM_005475.2(SH2B3):c.1267C>T (p.Gln423Ter) single nucleotide variant Malignant melanoma [RCV000069817] Chr12:111447686 [GRCh38]
Chr12:111885490 [GRCh37]
Chr12:110369873 [NCBI36]
Chr12:12q24.12		 not provided
NM_002973.3(ATXN2):c.3903G>A (p.Thr1301=) single nucleotide variant Malignant melanoma [RCV000069818] Chr12:111453687 [GRCh38]
Chr12:111891491 [GRCh37]
Chr12:110375874 [NCBI36]
Chr12:12q24.12		 not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_005475.3(SH2B3):c.908_918del (p.Ser303fs) deletion not provided [RCV000591141] Chr12:111447015..111447025 [GRCh38]
Chr12:111884819..111884829 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV000763792]|not provided [RCV000591342] Chr12:111447506 [GRCh38]
Chr12:111447506..111447507 [GRCh38]
Chr12:111885310 [GRCh37]
Chr12:111885310..111885311 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.494C>G (p.Thr165Ser) single nucleotide variant SH2B3-related disorder [RCV003912654]|not provided [RCV003736761]|not specified [RCV000442862] Chr12:111418639 [GRCh38]
Chr12:111856443 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_005475.3(SH2B3):c.691G>A (p.Asp231Asn) single nucleotide variant Inborn genetic diseases [RCV003239928] Chr12:111418836 [GRCh38]
Chr12:111856640 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.-28+5G>A single nucleotide variant not provided [RCV001730222] Chr12:111406282 [GRCh38]
Chr12:111844086 [GRCh37]
Chr12:12q24.12		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.12(chr12:111842546-111856539)x1 copy number loss not provided [RCV000738043] Chr12:111842546..111856539 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12q24.12(chr12:111842546-111863589)x1 copy number loss not provided [RCV000738044] Chr12:111842546..111863589 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12q24.12(chr12:111851087-111863589)x1 copy number loss not provided [RCV000738045] Chr12:111851087..111863589 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12q24.12(chr12:111852581-111863589)x1 copy number loss not provided [RCV000738046] Chr12:111852581..111863589 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12q24.12(chr12:111856167-111856539)x1 copy number loss not provided [RCV000738047] Chr12:111856167..111856539 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_005475.3(SH2B3):c.733-268G>C single nucleotide variant not provided [RCV001644300] Chr12:111446485 [GRCh38]
Chr12:111884289 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.732+57T>A single nucleotide variant not provided [RCV001706999] Chr12:111418934 [GRCh38]
Chr12:111856738 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV000760171]|Thrombocythemia 1 [RCV000760174] Chr12:111447491 [GRCh38]
Chr12:111447491..111447492 [GRCh38]
Chr12:111885295 [GRCh37]
Chr12:111885295..111885296 [GRCh37]
Chr12:12q24.12		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3 copy number gain not provided [RCV000762701] Chr12:111861041..112280895 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.733-1957G>A single nucleotide variant not provided [RCV003312249] Chr12:111444796 [GRCh38]
Chr12:111882600 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1236+4TGGGG[4] microsatellite not provided [RCV001655191]|not specified [RCV001726607] Chr12:111447548..111447552 [GRCh38]
Chr12:111885352..111885356 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser) single nucleotide variant Multiple myeloma [RCV000984129] Chr12:111447395 [GRCh38]
Chr12:111885199 [GRCh37]
Chr12:12q24.12		 likely pathogenic
NM_005475.3(SH2B3):c.540G>A (p.Lys180=) single nucleotide variant not provided [RCV000886898]|not specified [RCV001818639] Chr12:111418685 [GRCh38]
Chr12:111856489 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1523G>A (p.Arg508Gln) single nucleotide variant SH2B3-related disorder [RCV003936094]|not provided [RCV000970253] Chr12:111448097 [GRCh38]
Chr12:111885901 [GRCh37]
Chr12:12q24.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005475.3(SH2B3):c.1327C>T (p.Arg443Cys) single nucleotide variant Inborn genetic diseases [RCV003267209] Chr12:111447746 [GRCh38]
Chr12:111885550 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr) single nucleotide variant Familial myelofibrosis [RCV003120366] Chr12:111418234 [GRCh38]
Chr12:111856038 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.674G>C (p.Arg225Pro) single nucleotide variant Inborn genetic diseases [RCV003291288] Chr12:111418819 [GRCh38]
Chr12:111856623 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1236+24T>G single nucleotide variant not provided [RCV001694777] Chr12:111447568 [GRCh38]
Chr12:111885372 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1031C>T (p.Pro344Leu) single nucleotide variant SH2B3-related disorder [RCV003923105]|not provided [RCV000907845]|not specified [RCV001818801] Chr12:111447339 [GRCh38]
Chr12:111885143 [GRCh37]
Chr12:12q24.12		 benign|likely benign
NM_005475.3(SH2B3):c.333C>T (p.Ala111=) single nucleotide variant not provided [RCV000919496] Chr12:111418478 [GRCh38]
Chr12:111856282 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.729C>T (p.Pro243=) single nucleotide variant not provided [RCV000909282]|not specified [RCV003151212] Chr12:111418874 [GRCh38]
Chr12:111856678 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.795G>A (p.Arg265=) single nucleotide variant not provided [RCV000909283]|not specified [RCV003151213] Chr12:111446815 [GRCh38]
Chr12:111884619 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.*178G>A single nucleotide variant not provided [RCV001595613] Chr12:111448480 [GRCh38]
Chr12:111886284 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1236+4TGGGG[6] microsatellite not provided [RCV001702180]|not specified [RCV001821957] Chr12:111447547..111447548 [GRCh38]
Chr12:111885351..111885352 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.733-142T>C single nucleotide variant not provided [RCV001689041] Chr12:111446611 [GRCh38]
Chr12:111884415 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV002488461]|not provided [RCV001667974] Chr12:111446804 [GRCh38]
Chr12:111884608 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.544T>C (p.Phe182Leu) single nucleotide variant SH2B3-related disorder [RCV003921303]|not provided [RCV001652691] Chr12:111418689 [GRCh38]
Chr12:111856493 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.732+294T>C single nucleotide variant not provided [RCV001652128] Chr12:111419171 [GRCh38]
Chr12:111856975 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.-27-245A>G single nucleotide variant not provided [RCV001652423] Chr12:111417874 [GRCh38]
Chr12:111855678 [GRCh37]
Chr12:12q24.12		 benign
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
GRCh37/hg19 12q24.12(chr12:111870610-112123552)x3 copy number gain not provided [RCV001259631] Chr12:111870610..112123552 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.424C>T (p.Leu142Phe) single nucleotide variant not provided [RCV001281688] Chr12:111418569 [GRCh38]
Chr12:111856373 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.848C>A (p.Thr283Lys) single nucleotide variant not provided [RCV004598736] Chr12:111446955 [GRCh38]
Chr12:111884759 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.449C>A (p.Ser150Ter) single nucleotide variant not provided [RCV001726888] Chr12:111418594 [GRCh38]
Chr12:111856398 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.770T>C (p.Ile257Thr) single nucleotide variant not provided [RCV003487794]|not specified [RCV001817130] Chr12:111446790 [GRCh38]
Chr12:111884594 [GRCh37]
Chr12:12q24.12		 benign|uncertain significance
NM_005475.3(SH2B3):c.1426C>T (p.Leu476Phe) single nucleotide variant not provided [RCV004709174]|not specified [RCV001817135] Chr12:111448000 [GRCh38]
Chr12:111885804 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.464C>T (p.Pro155Leu) single nucleotide variant Thrombocythemia 1 [RCV003150832]|not specified [RCV001817124] Chr12:111418609 [GRCh38]
Chr12:111856413 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.639C>A (p.Ser213Arg) single nucleotide variant SH2B3-related disorder [RCV003401738]|not provided [RCV004692757]|not specified [RCV001822475] Chr12:111418784 [GRCh38]
Chr12:111856588 [GRCh37]
Chr12:12q24.12		 uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr) single nucleotide variant not specified [RCV002246834] Chr12:111418257 [GRCh38]
Chr12:111856061 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1A>G (p.Met1Val) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV002250348] Chr12:111418146 [GRCh38]
Chr12:111855950 [GRCh37]
Chr12:12q24.12		 pathogenic
NM_005475.3(SH2B3):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV004721028]|not specified [RCV002248193] Chr12:111446814 [GRCh38]
Chr12:111884618 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1454_1477del (p.Asp485_Trp492del) deletion not provided [RCV003883962]|not specified [RCV003151651] Chr12:111448012..111448035 [GRCh38]
Chr12:111885816..111885839 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.733-10G>C single nucleotide variant not specified [RCV003151652] Chr12:111446743 [GRCh38]
Chr12:111884547 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.230G>A (p.Arg77His) single nucleotide variant not specified [RCV002248191] Chr12:111418375 [GRCh38]
Chr12:111856179 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.781C>T (p.Arg261Trp) single nucleotide variant not specified [RCV003151653] Chr12:111446801 [GRCh38]
Chr12:111884605 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1383C>T (p.Tyr461=) single nucleotide variant not specified [RCV003151650] Chr12:111447802 [GRCh38]
Chr12:111885606 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.1228del (p.Gly409_Ile410insTer) deletion Hereditary cancer-predisposing syndrome [RCV002472256] Chr12:111447536 [GRCh38]
Chr12:111885340 [GRCh37]
Chr12:12q24.12		 pathogenic
NM_005475.3(SH2B3):c.691G>T (p.Asp231Tyr) single nucleotide variant Inborn genetic diseases [RCV002689063] Chr12:111418836 [GRCh38]
Chr12:111856640 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1501C>T (p.Leu501Phe) single nucleotide variant Inborn genetic diseases [RCV002728700] Chr12:111448075 [GRCh38]
Chr12:111885879 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.703C>T (p.Arg235Cys) single nucleotide variant Inborn genetic diseases [RCV002684549]|not provided [RCV004725623] Chr12:111418848 [GRCh38]
Chr12:111856652 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1331C>T (p.Ser444Leu) single nucleotide variant Inborn genetic diseases [RCV002973403] Chr12:111447750 [GRCh38]
Chr12:111885554 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1052C>T (p.Ala351Val) single nucleotide variant Inborn genetic diseases [RCV002905440] Chr12:111447360 [GRCh38]
Chr12:111885164 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.149G>T (p.Arg50Leu) single nucleotide variant Inborn genetic diseases [RCV002946814] Chr12:111418294 [GRCh38]
Chr12:111856098 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.605G>C (p.Arg202Pro) single nucleotide variant Inborn genetic diseases [RCV002784274] Chr12:111418750 [GRCh38]
Chr12:111856554 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1715A>G (p.Tyr572Cys) single nucleotide variant Inborn genetic diseases [RCV002704957] Chr12:111448289 [GRCh38]
Chr12:111886093 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.676C>T (p.Arg226Trp) single nucleotide variant Inborn genetic diseases [RCV002998632]|not provided [RCV003491300] Chr12:111418821 [GRCh38]
Chr12:111856625 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1022G>A (p.Gly341Asp) single nucleotide variant Inborn genetic diseases [RCV003001132] Chr12:111447330 [GRCh38]
Chr12:111885134 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.172C>G (p.Leu58Val) single nucleotide variant Inborn genetic diseases [RCV002892474] Chr12:111418317 [GRCh38]
Chr12:111856121 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.919G>C (p.Gly307Arg) single nucleotide variant Inborn genetic diseases [RCV003004233] Chr12:111447026 [GRCh38]
Chr12:111884830 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1064C>T (p.Thr355Met) single nucleotide variant Inborn genetic diseases [RCV002670587] Chr12:111447372 [GRCh38]
Chr12:111885176 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.131A>G (p.Gln44Arg) single nucleotide variant Inborn genetic diseases [RCV002769973] Chr12:111418276 [GRCh38]
Chr12:111856080 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.103G>T (p.Val35Leu) single nucleotide variant Inborn genetic diseases [RCV002855993] Chr12:111418248 [GRCh38]
Chr12:111856052 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.631A>G (p.Met211Val) single nucleotide variant Inborn genetic diseases [RCV002920343] Chr12:111418776 [GRCh38]
Chr12:111856580 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.652C>A (p.Gln218Lys) single nucleotide variant Inborn genetic diseases [RCV003299745] Chr12:111418797 [GRCh38]
Chr12:111856601 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.755C>G (p.Ala252Gly) single nucleotide variant Inborn genetic diseases [RCV003174829] Chr12:111446775 [GRCh38]
Chr12:111884579 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.940G>A (p.Glu314Lys) single nucleotide variant Inborn genetic diseases [RCV003173262] Chr12:111447138 [GRCh38]
Chr12:111884942 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.482C>T (p.Ala161Val) single nucleotide variant Primary familial polycythemia due to EPO receptor mutation [RCV003340740] Chr12:111418627 [GRCh38]
Chr12:111856431 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.340G>T (p.Gly114Cys) single nucleotide variant Inborn genetic diseases [RCV003343500] Chr12:111418485 [GRCh38]
Chr12:111856289 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.*8G>C single nucleotide variant SH2B3-related disorder [RCV003394427] Chr12:111448310 [GRCh38]
Chr12:111886114 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.904C>T (p.Leu302Phe) single nucleotide variant SH2B3-related disorder [RCV003402632] Chr12:111447011 [GRCh38]
Chr12:111884815 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.733-11829G>A single nucleotide variant not provided [RCV003390304] Chr12:111434924 [GRCh38]
Chr12:111872728 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.557G>T (p.Ser186Ile) single nucleotide variant not provided [RCV003456829] Chr12:111418702 [GRCh38]
Chr12:111856506 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro) single nucleotide variant Hereditary cancer [RCV003492897] Chr12:111448067 [GRCh38]
Chr12:111885871 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.733-11835T>C single nucleotide variant SH2B3-related disorder [RCV003919379]|not provided [RCV003736358] Chr12:111434918 [GRCh38]
Chr12:111872722 [GRCh37]
Chr12:12q24.12		 benign|likely benign
NM_005475.3(SH2B3):c.662G>T (p.Arg221Met) single nucleotide variant not provided [RCV003736389] Chr12:111418807 [GRCh38]
Chr12:111856611 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1651C>T (p.Arg551Trp) single nucleotide variant SH2B3-related disorder [RCV004756546]|not provided [RCV003736375] Chr12:111448225 [GRCh38]
Chr12:111886029 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1137G>A (p.Gln379=) single nucleotide variant not provided [RCV003736445] Chr12:111447445 [GRCh38]
Chr12:111885249 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro) single nucleotide variant Primary myelofibrosis [RCV003989017] Chr12:111447744 [GRCh38]
Chr12:111885548 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1556C>T (p.Ser519Phe) single nucleotide variant not provided [RCV003993159] Chr12:111448130 [GRCh38]
Chr12:111885934 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs) duplication Primary myelofibrosis [RCV003990125] Chr12:111448134..111448135 [GRCh38]
Chr12:111885938..111885939 [GRCh37]
Chr12:12q24.12		 likely pathogenic
NM_005475.3(SH2B3):c.1236+3_1236+7del deletion SH2B3-related disorder [RCV003966970] Chr12:111447547..111447551 [GRCh38]
Chr12:111885351..111885355 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.1022-10_1022-6del deletion SH2B3-related disorder [RCV003949366] Chr12:111447316..111447320 [GRCh38]
Chr12:111885120..111885124 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.232G>A (p.Glu78Lys) single nucleotide variant SH2B3-related disorder [RCV003944591] Chr12:111418377 [GRCh38]
Chr12:111856181 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.1401A>G (p.Gln467=) single nucleotide variant not provided [RCV003885795] Chr12:111447820 [GRCh38]
Chr12:111885624 [GRCh37]
Chr12:12q24.12		 likely benign
NM_005475.3(SH2B3):c.1154C>A (p.Ala385Asp) single nucleotide variant Inborn genetic diseases [RCV004447991] Chr12:111447462 [GRCh38]
Chr12:111885266 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1685G>A (p.Arg562Gln) single nucleotide variant Inborn genetic diseases [RCV004447993] Chr12:111448259 [GRCh38]
Chr12:111886063 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.156T>G (p.His52Gln) single nucleotide variant Inborn genetic diseases [RCV004447992]|not provided [RCV004723589] Chr12:111418301 [GRCh38]
Chr12:111856105 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.812A>G (p.Asn271Ser) single nucleotide variant Inborn genetic diseases [RCV004447994] Chr12:111446832 [GRCh38]
Chr12:111884636 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1205T>C (p.Val402Ala) single nucleotide variant Inborn genetic diseases [RCV004667248] Chr12:111447513 [GRCh38]
Chr12:111885317 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.401C>T (p.Ser134Phe) single nucleotide variant Inborn genetic diseases [RCV004666282] Chr12:111418546 [GRCh38]
Chr12:111856350 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.202_203del (p.Thr68fs) deletion not provided [RCV004592074] Chr12:111418346..111418347 [GRCh38]
Chr12:111856150..111856151 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.127C>T (p.Arg43Cys) single nucleotide variant not provided [RCV004588933] Chr12:111418272 [GRCh38]
Chr12:111856076 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1351G>A (p.Gly451Ser) single nucleotide variant not provided [RCV004590505] Chr12:111447770 [GRCh38]
Chr12:111885574 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1721C>T (p.Pro574Leu) single nucleotide variant not provided [RCV004598728] Chr12:111448295 [GRCh38]
Chr12:111886099 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.674G>A (p.Arg225His) single nucleotide variant Inborn genetic diseases [RCV004667247] Chr12:111418819 [GRCh38]
Chr12:111856623 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1603C>G (p.Leu535Val) single nucleotide variant not provided [RCV004722310] Chr12:111448177 [GRCh38]
Chr12:111885981 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.772C>T (p.Gln258Ter) single nucleotide variant not provided [RCV004721978] Chr12:111446792 [GRCh38]
Chr12:111884596 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.191C>A (p.Ser64Ter) single nucleotide variant not provided [RCV004725804] Chr12:111418336 [GRCh38]
Chr12:111856140 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.1199A>G (p.Glu400Gly) single nucleotide variant not provided [RCV004729281] Chr12:111447507 [GRCh38]
Chr12:111885311 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.238C>T (p.Arg80Cys) single nucleotide variant SH2B3-related disorder [RCV004756811] Chr12:111418383 [GRCh38]
Chr12:111856187 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1164_1165dup (p.Phe389fs) microsatellite not provided [RCV004773575] Chr12:111447469..111447470 [GRCh38]
Chr12:111885273..111885274 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.923G>A (p.Arg308Gln) single nucleotide variant not provided [RCV004727653] Chr12:111447030 [GRCh38]
Chr12:111884834 [GRCh37]
Chr12:12q24.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2141
Count of miRNA genes:969
Interacting mature miRNAs:1166
Transcripts:ENST00000341259, ENST00000538307, ENST00000550925
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407029826GWAS678802_Hphosphoglycerides measurement QTL GWAS678802 (human)1e-16phosphoglycerides measurement 12111427245111427246Human
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
407066183GWAS715159_Hhigh density lipoprotein particle size measurement QTL GWAS715159 (human)6e-12high density lipoprotein particle size measurementblood high density lipoprotein particle diameter (CMO:0002692)12111427245111427246Human
407015498GWAS664474_HBeta blocking agent use measurement QTL GWAS664474 (human)8e-22Beta blocking agent use measurement12111427245111427246Human
407406659GWAS1055635_Hcystatin C measurement QTL GWAS1055635 (human)9e-27cystatin C measurementblood cystatin C level (CMO:0002777)12111447506111447507Human
407149141GWAS798117_Hplatelet count QTL GWAS798117 (human)4e-33platelet quantity (VT:0003179)platelet count (CMO:0000029)12111409936111409937Human
407149142GWAS798118_Hplatelet count QTL GWAS798118 (human)4e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)12111418869111418870Human
407232086GWAS881062_Hhemoglobin measurement QTL GWAS881062 (human)3e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)12111447491111447492Human
407324244GWAS973220_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS973220 (human)1e-10triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)12111417492111417493Human
407173201GWAS822177_Hforced expiratory volume, body mass index QTL GWAS822177 (human)5e-10forced expiratory volume, body mass indexbody mass index (BMI) (CMO:0000105)12111419683111419684Human
407338064GWAS987040_Hhemoglobin A1 measurement QTL GWAS987040 (human)6e-35hemoglobin A1 measurement12111427245111427246Human
406939225GWAS588201_Hvascular cell adhesion protein 1 measurement QTL GWAS588201 (human)2e-31vascular cell adhesion protein 1 measurement12111427245111427246Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
407075929GWAS724905_Hsystolic blood pressure, alcohol drinking QTL GWAS724905 (human)3e-30systolic blood pressure, alcohol drinkingsystolic blood pressure (CMO:0000004)12111427245111427246Human
407380306GWAS1029282_Hhemoglobin measurement QTL GWAS1029282 (human)3e-21hemoglobin measurementhemoglobin measurement (CMO:0000508)12111447506111447507Human
407074397GWAS723373_Htotal blood protein measurement QTL GWAS723373 (human)6e-32total blood protein measurementblood protein measurement (CMO:0000028)12111407152111407153Human
407333976GWAS982952_Hdiastolic blood pressure QTL GWAS982952 (human)2e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)12111435430111435431Human
406983266GWAS632242_Hmyeloproliferative disorder QTL GWAS632242 (human)3e-19myeloproliferative disorder12111427245111427246Human
407105123GWAS754099_Hplatelet crit QTL GWAS754099 (human)7e-77platelet critplateletcrit (CMO:0001349)12111435363111435364Human
407143013GWAS791989_Hsphingomyelin measurement QTL GWAS791989 (human)3e-23sphingomyelin measurement12111427245111427246Human
407359078GWAS1008054_HBMI-adjusted hip circumference QTL GWAS1008054 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)12111424771111424772Human
1357361BW37_HBody weight QTL 37 (human)4.080.00001Body fat amount12102836889116423339Human
406899301GWAS548277_Hdyslexia QTL GWAS548277 (human)1e-10dyslexia12111427245111427246Human
406970212GWAS619188_Hfibrinogen measurement QTL GWAS619188 (human)2e-13fibrinogen measurementblood fibrinogen level (CMO:0000209)12111427245111427246Human
407070054GWAS719030_Hdiastolic blood pressure, alcohol drinking QTL GWAS719030 (human)7e-58diastolic blood pressure, alcohol drinkingdiastolic blood pressure (CMO:0000005)12111427245111427246Human
407062116GWAS711092_HIschemic stroke QTL GWAS711092 (human)1e-14Ischemic stroke, plasminogen activator inhibitor 1 measurementblood plasminogen activator inhibitor 1 level (CMO:0003034)12111446804111446805Human
406995311GWAS644287_Hmean corpuscular hemoglobin concentration QTL GWAS644287 (human)3e-33mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)12111433337111433338Human
407067763GWAS716739_Hmean arterial pressure, alcohol drinking QTL GWAS716739 (human)2e-20mean arterial pressure, alcohol drinkingmean arterial blood pressure (CMO:0000009)12111427245111427246Human
407056497GWAS705473_Hhematocrit QTL GWAS705473 (human)4e-23hematocrithematocrit (CMO:0000037)12111447506111447507Human
407152496GWAS801472_Hplatelet count QTL GWAS801472 (human)2e-13platelet quantity (VT:0003179)platelet count (CMO:0000029)12111411711111411712Human
407080310GWAS729286_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS729286 (human)0.0000005alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111427245111427246Human
407087224GWAS736200_Hlinoleic acid measurement QTL GWAS736200 (human)4e-19linoleic acid measurementblood free fatty acids level (CMO:0000117)12111427245111427246Human
407335545GWAS984521_Hbilirubin measurement QTL GWAS984521 (human)2e-56bilirubin measurementserum total bilirubin level (CMO:0000376)12111427245111427246Human
407241593GWAS890569_Hplatelet count QTL GWAS890569 (human)4e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)12111429489111429490Human
407237125GWAS886101_Hvenous thromboembolism, fibrinogen measurement QTL GWAS886101 (human)6e-19venous thromboembolism, fibrinogen measurementblood fibrinogen level (CMO:0000209)12111427245111427246Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
407064324GWAS713300_Hmonocyte percentage of leukocytes QTL GWAS713300 (human)2e-29monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)12111407152111407153Human
407244289GWAS893265_Hprimary biliary cirrhosis QTL GWAS893265 (human)6e-10primary biliary cirrhosis12111449855111449856Human
407179285GWAS828261_Hhigh density lipoprotein cholesterol measurement QTL GWAS828261 (human)0.000003high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111427245111427246Human
406958104GWAS607080_Hmonocyte percentage of leukocytes QTL GWAS607080 (human)6e-12monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)12111407152111407153Human
407114777GWAS763753_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS763753 (human)0.0000003alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111427245111427246Human
407190555GWAS839531_Hlymphocyte count QTL GWAS839531 (human)2e-13lymphocyte countblood lymphocyte count (CMO:0000031)12111418869111418870Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
407013661GWAS662637_Hstroke QTL GWAS662637 (human)6e-12stroke12111446804111446805Human
407137572GWAS786548_Hphospholipids in very large HDL measurement QTL GWAS786548 (human)7e-13phospholipids in very large HDL measurement 12111427245111427246Human
406919970GWAS568946_Hplatelet count QTL GWAS568946 (human)3e-60platelet quantity (VT:0003179)platelet count (CMO:0000029)12111433337111433338Human
406905382GWAS554358_Hserum albumin measurement QTL GWAS554358 (human)3e-09serum albumin measurementserum albumin level (CMO:0000550)12111450170111450171Human
407061540GWAS710516_Hsmall vessel stroke QTL GWAS710516 (human)0.000006rheumatoid arthritis12111446804111446805Human
407001130GWAS650106_Hadolescent idiopathic scoliosis QTL GWAS650106 (human)2e-29adolescent idiopathic scoliosis12111449855111449856Human
406967338GWAS616314_Hbrain connectivity measurement QTL GWAS616314 (human)9e-12brain connectivity measurement12111427245111427246Human
407040041GWAS689017_Hcholine measurement QTL GWAS689017 (human)2e-18choline measurement12111427245111427246Human
407012150GWAS661126_HDiuretic use measurement QTL GWAS661126 (human)5e-16Diuretic use measurement12111427245111427246Human
407074105GWAS723081_Hsystolic blood pressure, alcohol consumption measurement QTL GWAS723081 (human)4e-14systolic blood pressure, alcohol consumption measurementethanol drink intake rate (CMO:0001407)12111427245111427246Human
407347517GWAS996493_Hbody mass index QTL GWAS996493 (human)7e-09body mass indexbody mass index (BMI) (CMO:0000105)12111427245111427246Human
407016254GWAS665230_HAgents acting on the renin-angiotensin system use measurement QTL GWAS665230 (human)3e-27Agents acting on the renin-angiotensin system use measurement12111427245111427246Human
407083211GWAS732187_Halcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS732187 (human)0.000006alcohol consumption measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111427245111427246Human
407241167GWAS890143_Hplatelet count QTL GWAS890143 (human)3e-47platelet quantity (VT:0003179)platelet count (CMO:0000029)12111435363111435364Human
407206350GWAS855326_Hplatelet count QTL GWAS855326 (human)0.000006platelet quantity (VT:0003179)platelet count (CMO:0000029)12111406414111406415Human
407331788GWAS980764_Heosinophil count QTL GWAS980764 (human)4e-298eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)12111427245111427246Human
407044302GWAS693278_Hneuroticism measurement, cognitive function measurement QTL GWAS693278 (human)2e-10neuroticism measurement, cognitive function measurement12111426880111426881Human
406968785GWAS617761_Hreaction time measurement QTL GWAS617761 (human)1e-08reaction time measurement12111440722111440723Human
407120597GWAS769573_Hcholine measurement QTL GWAS769573 (human)8e-16choline measurement12111427245111427246Human
407313109GWAS962085_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS962085 (human)2e-08very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)12111417492111417493Human
406980817GWAS629793_Hwhite matter microstructure measurement QTL GWAS629793 (human)3e-08white matter microstructure measurement12111427245111427246Human
407083478GWAS732454_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS732454 (human)2e-12low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)12111427245111427246Human
407332050GWAS981026_Hvery low density lipoprotein cholesterol measurement, cholesterol:total lipids ratio QTL GWAS981026 (human)5e-10very low density lipoprotein cholesterol measurement, cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)12111417492111417493Human
407053268GWAS702244_Hreticulocyte count QTL GWAS702244 (human)5e-18reticulocyte counttotal reticulocyte count (CMO:0003020)12111447506111447507Human
407326682GWAS975658_Hdiet measurement QTL GWAS975658 (human)3e-12diet measurementfood intake measurement (CMO:0000772)12111424771111424772Human
407344857GWAS993833_Hcalcium measurement QTL GWAS993833 (human)7e-12calcium measurementblood calcium level (CMO:0000502)12111407152111407153Human
407037149GWAS686125_Hfatty acid measurement QTL GWAS686125 (human)2e-10fatty acid measurement12111427245111427246Human
406967520GWAS616496_Hbrain connectivity measurement QTL GWAS616496 (human)7e-11brain connectivity measurement12111427245111427246Human
407394794GWAS1043770_Hapolipoprotein A 1 measurement QTL GWAS1043770 (human)8e-10apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)12111447506111447507Human
407395050GWAS1044026_Hplatelet count QTL GWAS1044026 (human)3e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)12111448270111448271Human
407384043GWAS1033019_Hreticulocyte measurement QTL GWAS1033019 (human)8e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)12111447506111447507Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
406932452GWAS581428_Hreaction time measurement QTL GWAS581428 (human)3e-08reaction time measurement12111411711111411712Human
407148513GWAS797489_Hplatelet count QTL GWAS797489 (human)6e-44platelet quantity (VT:0003179)platelet count (CMO:0000029)12111409936111409937Human
407127522GWAS776498_Hplatelet crit QTL GWAS776498 (human)1e-16platelet critplateletcrit (CMO:0001349)12111447491111447492Human
407148514GWAS797490_Hplatelet count QTL GWAS797490 (human)2e-25platelet quantity (VT:0003179)platelet count (CMO:0000029)12111418869111418870Human
406911211GWAS560187_Hneuroimaging measurement QTL GWAS560187 (human)1e-10neuroimaging measurement12111450170111450171Human
407198190GWAS847166_Hfibrinogen measurement, factor VII measurement QTL GWAS847166 (human)1e-14fibrinogen measurement, factor VII measurementblood fibrinogen level (CMO:0000209)12111427245111427246Human
407070447GWAS719423_Hplatelet count QTL GWAS719423 (human)3e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)12111411711111411712Human
407130090GWAS779066_Hplatelet count QTL GWAS779066 (human)8e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)12111447491111447492Human
407149044GWAS798020_Hplatelet count QTL GWAS798020 (human)3e-25platelet quantity (VT:0003179)platelet count (CMO:0000029)12111409936111409937Human
407108850GWAS757826_Hplatelet component distribution width QTL GWAS757826 (human)2e-36platelet component distribution widthplatelet distribution width (CMO:0001350)12111406414111406415Human
407149045GWAS798021_Hplatelet count QTL GWAS798021 (human)9e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)12111418869111418870Human
407404537GWAS1053513_Hhigh density lipoprotein cholesterol measurement QTL GWAS1053513 (human)2e-17high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111447506111447507Human
407338229GWAS987205_Hmonocyte count QTL GWAS987205 (human)5e-72monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)12111427245111427246Human
407341044GWAS990020_Hplatelet count QTL GWAS990020 (human)4e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)12111418869111418870Human
407305211GWAS954187_Hlymphocyte count QTL GWAS954187 (human)1e-15lymphocyte countblood lymphocyte count (CMO:0000031)12111418869111418870Human
406950398GWAS599374_Hprotein measurement QTL GWAS599374 (human)1e-13protein measurement12111427245111427246Human
407321988GWAS970964_Hvery low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS970964 (human)8e-10very low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)12111417492111417493Human
407073415GWAS722391_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS722391 (human)2e-09alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111427245111427246Human
407340930GWAS989906_Hurate measurement QTL GWAS989906 (human)5e-42urate measurementblood uric acid level (CMO:0000501)12111427245111427246Human
407262848GWAS911824_Hdiastolic blood pressure QTL GWAS911824 (human)3e-88diastolic blood pressurediastolic blood pressure (CMO:0000005)12111427245111427246Human
407093897GWAS742873_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS742873 (human)2e-08low density lipoprotein cholesterol measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)12111427245111427246Human
406939018GWAS587994_Hneuroimaging measurement QTL GWAS587994 (human)4e-09neuroimaging measurement12111419683111419684Human
407201672GWAS850648_Herythrocyte count QTL GWAS850648 (human)2e-09erythrocyte countred blood cell count (CMO:0000025)12111447491111447492Human
406971534GWAS620510_Hmonocyte count QTL GWAS620510 (human)3e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)12111407152111407153Human
407376024GWAS1025000_Hcolorectal cancer QTL GWAS1025000 (human)0.000006colorectal cancer12111418869111418870Human
407378843GWAS1027819_Hblood urea nitrogen measurement QTL GWAS1027819 (human)6e-09blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)12111449163111449164Human
407077271GWAS726247_Hmean arterial pressure, alcohol drinking QTL GWAS726247 (human)3e-16total lipids in very large HDL measurement mean arterial blood pressure (CMO:0000009)12111427245111427246Human
407200144GWAS849120_Hmonocyte count QTL GWAS849120 (human)2e-32monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)12111407152111407153Human
407251859GWAS900835_Hdiastolic blood pressure QTL GWAS900835 (human)3e-58diastolic blood pressurediastolic blood pressure (CMO:0000005)12111427245111427246Human
406950551GWAS599527_Hplatelet count QTL GWAS599527 (human)7e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)12111449855111449856Human
407309727GWAS958703_Hhemoglobin measurement QTL GWAS958703 (human)1e-148hemoglobin measurementhemoglobin measurement (CMO:0000508)12111427245111427246Human
406976155GWAS625131_Hmean corpuscular hemoglobin QTL GWAS625131 (human)4e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)12111409936111409937Human
406923164GWAS572140_Hlymphotoxin-alpha measurement QTL GWAS572140 (human)6e-24lymphotoxin-alpha measurement12111427245111427246Human
407077534GWAS726510_Hmean arterial pressure, alcohol consumption measurement QTL GWAS726510 (human)5e-20mean arterial pressure, alcohol consumption measurementethanol drink intake rate (CMO:0001407)12111427245111427246Human
407406229GWAS1055205_Hmonocyte percentage of leukocytes QTL GWAS1055205 (human)4e-13monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)12111447506111447507Human
407093661GWAS742637_Hlow density lipoprotein cholesterol measurement, alcohol drinking QTL GWAS742637 (human)1e-08low density lipoprotein cholesterol measurement, alcohol drinkingblood low density lipoprotein cholesterol level (CMO:0000053)12111427245111427246Human
407014301GWAS663277_Hrheumatoid arthritis QTL GWAS663277 (human)4e-09rheumatoid arthritis12111418869111418870Human
407208101GWAS857077_Hplatelet count QTL GWAS857077 (human)3e-52platelet quantity (VT:0003179)platelet count (CMO:0000029)12111418377111418378Human
407215012GWAS863988_Hcystatin C measurement QTL GWAS863988 (human)1e-10cystatin C measurementblood cystatin C level (CMO:0002777)12111447491111447492Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
407208102GWAS857078_Hplatelet count QTL GWAS857078 (human)2e-62platelet quantity (VT:0003179)platelet count (CMO:0000029)12111447491111447492Human
407135905GWAS784881_Hhigh density lipoprotein cholesterol measurement QTL GWAS784881 (human)1e-15high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12111427245111427246Human
407215011GWAS863987_Hcystatin C measurement QTL GWAS863987 (human)1e-24cystatin C measurementblood cystatin C level (CMO:0002777)12111418377111418378Human
407334063GWAS983039_Hsystolic blood pressure QTL GWAS983039 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)12111435430111435431Human
406907307GWAS556283_Hankylosing spondylitis QTL GWAS556283 (human)0.0000002ankylosing spondylitis12111424771111424772Human
407216814GWAS865790_Hreticulocyte count QTL GWAS865790 (human)1e-25reticulocyte counttotal reticulocyte count (CMO:0003020)12111447506111447507Human
407308203GWAS957179_Hserum non-albumin protein measurement QTL GWAS957179 (human)4e-10serum non-albumin protein measurementserum globulin level (CMO:0002399)12111434918111434919Human
407242152GWAS891128_Hplatelet-to-lymphocyte ratio QTL GWAS891128 (human)3e-45platelet-to-lymphocyte ratio12111411711111411712Human
406896816GWAS545792_Hplatelet measurement QTL GWAS545792 (human)3e-47platelet measurementplatelet measurement (CMO:0000921)12111433337111433338Human
406980275GWAS629251_Hserum alanine aminotransferase measurement QTL GWAS629251 (human)1e-26serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)12111433337111433338Human
407344821GWAS993797_Hlymphocyte count QTL GWAS993797 (human)7e-260lymphocyte countblood lymphocyte count (CMO:0000031)12111427245111427246Human
407076272GWAS725248_Hfree cholesterol measurement QTL GWAS725248 (human)5e-17blood protein measurementblood protein measurement (CMO:0000028)12111427245111427246Human
407092912GWAS741888_Hlow density lipoprotein cholesterol measurement, alcohol consumption measurement QTL GWAS741888 (human)2e-11basophil quantity (VT:0002607)blood basophil count (CMO:0000034)12111427245111427246Human
407100342GWAS749318_Hautoimmune disease QTL GWAS749318 (human)2e-76autoimmune disease12111427245111427246Human
406907318GWAS556294_Hankylosing spondylitis QTL GWAS556294 (human)5e-08ankylosing spondylitis12111424771111424772Human
407187378GWAS836354_Hplatelet count QTL GWAS836354 (human)8e-159platelet quantity (VT:0003179)platelet count (CMO:0000029)12111449855111449856Human
407023546GWAS672522_Hplatelet count QTL GWAS672522 (human)5e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)12111449855111449856Human
407268286GWAS917262_Hfibrinogen measurement, coronary artery disease QTL GWAS917262 (human)8e-35fibrinogen measurement, coronary artery diseaseblood fibrinogen level (CMO:0000209)12111427245111427246Human
407071674GWAS720650_Hapolipoprotein A 1 measurement QTL GWAS720650 (human)1e-19milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)12111427245111427246Human
407206846GWAS855822_Hplatelet count QTL GWAS855822 (human)7e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)12111406414111406415Human
407218366GWAS867342_Hreticulocyte measurement QTL GWAS867342 (human)1e-17reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)12111447506111447507Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human

Markers in Region
RH15682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712111,889,201 - 111,889,309UniSTSGRCh37
Build 3612110,373,584 - 110,373,692RGDNCBI36
Celera12111,515,635 - 111,515,743RGD
Cytogenetic Map12q24UniSTS
HuRef12108,903,742 - 108,903,850UniSTS
GeneMap99-GB4 RH Map12428.64UniSTS
NCBI RH Map12715.0UniSTS
SGC35065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712111,886,914 - 111,887,051UniSTSGRCh37
Build 3612110,371,297 - 110,371,434RGDNCBI36
Celera12111,513,348 - 111,513,485RGD
Cytogenetic Map12q24UniSTS
HuRef12108,901,455 - 108,901,592UniSTS
GeneMap99-GB4 RH Map12426.48UniSTS
Whitehead-RH Map12529.4UniSTS
NCBI RH Map12711.2UniSTS
D12S2142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712111,889,182 - 111,889,316UniSTSGRCh37
Build 3612110,373,565 - 110,373,699RGDNCBI36
Celera12111,515,616 - 111,515,750RGD
Cytogenetic Map12q24UniSTS
HuRef12108,903,723 - 108,903,857UniSTS
LNK_1461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712111,888,568 - 111,889,444UniSTSGRCh37
Build 3612110,372,951 - 110,373,827RGDNCBI36
Celera12111,515,002 - 111,515,878RGD
HuRef12108,903,109 - 108,903,985UniSTS
RH44606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712111,886,777 - 111,886,958UniSTSGRCh37
Build 3612110,371,160 - 110,371,341RGDNCBI36
Celera12111,513,211 - 111,513,392RGD
Cytogenetic Map12q24UniSTS
HuRef12108,901,318 - 108,901,499UniSTS
GeneMap99-GB4 RH Map12426.86UniSTS
NCBI RH Map12709.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4972 1725 2351 5 624 1951 465 2270 7304 6471 53 3732 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN434066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341259   ⟹   ENSP00000345492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12111,405,923 - 111,451,623 (+)Ensembl
Ensembl Acc Id: ENST00000538307   ⟹   ENSP00000440597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12111,434,862 - 111,449,202 (+)Ensembl
Ensembl Acc Id: ENST00000550925   ⟹   ENSP00000473529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12111,418,340 - 111,444,848 (+)Ensembl
RefSeq Acc Id: NM_001291424   ⟹   NP_001278353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,434,862 - 111,451,623 (+)NCBI
CHM1_112111,840,630 - 111,857,391 (+)NCBI
T2T-CHM13v2.012111,415,420 - 111,432,181 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005475   ⟹   NP_005466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,923 - 111,451,623 (+)NCBI
GRCh3712111,843,720 - 111,889,427 (+)NCBI
Build 3612110,328,135 - 110,373,810 (+)NCBI Archive
HuRef12108,858,506 - 108,903,968 (+)ENTREZGENE
CHM1_112111,811,712 - 111,857,391 (+)NCBI
T2T-CHM13v2.012111,386,481 - 111,432,181 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253818   ⟹   XP_005253875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,923 - 111,451,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253819   ⟹   XP_005253876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,923 - 111,451,623 (+)NCBI
GRCh3712111,843,720 - 111,889,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719180   ⟹   XP_006719243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,445,028 - 111,451,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537719   ⟹   XP_011536021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,923 - 111,451,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537720   ⟹   XP_011536022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,404,730 - 111,451,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428025   ⟹   XP_047283981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,404,730 - 111,451,623 (+)NCBI
RefSeq Acc Id: XM_047428026   ⟹   XP_047283982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,404,730 - 111,451,623 (+)NCBI
RefSeq Acc Id: XM_047428027   ⟹   XP_047283983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,923 - 111,447,034 (+)NCBI
RefSeq Acc Id: XM_047428028   ⟹   XP_047283984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,418,857 - 111,451,623 (+)NCBI
RefSeq Acc Id: XM_054370689   ⟹   XP_054226664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,386,481 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370690   ⟹   XP_054226665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,385,610 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370691   ⟹   XP_054226666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,386,481 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370692   ⟹   XP_054226667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,385,610 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370693   ⟹   XP_054226668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,386,481 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370694   ⟹   XP_054226669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,385,588 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370695   ⟹   XP_054226670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,386,481 - 111,427,592 (+)NCBI
RefSeq Acc Id: XM_054370696   ⟹   XP_054226671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,425,586 - 111,432,181 (+)NCBI
RefSeq Acc Id: XM_054370697   ⟹   XP_054226672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012111,399,415 - 111,432,181 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001278353 (Get FASTA)   NCBI Sequence Viewer  
  NP_005466 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253875 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253876 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719243 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536021 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536022 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283981 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283982 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283983 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283984 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226664 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226665 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226666 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226667 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226668 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226669 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226670 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226671 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226672 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC71695 (Get FASTA)   NCBI Sequence Viewer  
  AAH15786 (Get FASTA)   NCBI Sequence Viewer  
  AAI36452 (Get FASTA)   NCBI Sequence Viewer  
  BAD92148 (Get FASTA)   NCBI Sequence Viewer  
  BAH13642 (Get FASTA)   NCBI Sequence Viewer  
  CAB42642 (Get FASTA)   NCBI Sequence Viewer  
  CBX47467 (Get FASTA)   NCBI Sequence Viewer  
  EAW97955 (Get FASTA)   NCBI Sequence Viewer  
  EAW97956 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345492
  ENSP00000345492.2
  ENSP00000440597
  ENSP00000440597.1
  ENSP00000473529.1
GenBank Protein Q9UQQ2 (Get FASTA)   NCBI Sequence Viewer  
  QKW90818 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005466   ⟸   NM_005475
- Peptide Label: isoform 1
- UniProtKB: B9EGG5 (UniProtKB/Swiss-Prot),   O95184 (UniProtKB/Swiss-Prot),   Q9UQQ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005253875   ⟸   XM_005253818
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005253876   ⟸   XM_005253819
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006719243   ⟸   XM_006719180
- Peptide Label: isoform X6
- UniProtKB: B7Z7K6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278353   ⟸   NM_001291424
- Peptide Label: isoform 2
- UniProtKB: B7Z7K6 (UniProtKB/TrEMBL),   F5GYM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536022   ⟸   XM_011537720
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011536021   ⟸   XM_011537719
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000440597   ⟸   ENST00000538307
Ensembl Acc Id: ENSP00000473529   ⟸   ENST00000550925
Ensembl Acc Id: ENSP00000345492   ⟸   ENST00000341259
RefSeq Acc Id: XP_047283981   ⟸   XM_047428025
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283982   ⟸   XM_047428026
- Peptide Label: isoform X4
- UniProtKB: Q9UQQ2 (UniProtKB/Swiss-Prot),   B9EGG5 (UniProtKB/Swiss-Prot),   O95184 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283983   ⟸   XM_047428027
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047283984   ⟸   XM_047428028
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054226669   ⟸   XM_054370694
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054226665   ⟸   XM_054370690
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226667   ⟸   XM_054370692
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226664   ⟸   XM_054370689
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226666   ⟸   XM_054370691
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226668   ⟸   XM_054370693
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226670   ⟸   XM_054370695
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054226672   ⟸   XM_054370697
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054226671   ⟸   XM_054370696
- Peptide Label: isoform X6
Protein Domains
PH   SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQQ2-F1-model_v2 AlphaFold Q9UQQ2 1-575 view protein structure

Promoters
RGD ID:6790475
Promoter ID:HG_KWN:16682
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001TSE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612110,327,171 - 110,328,257 (+)MPROMDB
RGD ID:6790476
Promoter ID:HG_KWN:16683
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001TSF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612110,340,239 - 110,340,739 (+)MPROMDB
RGD ID:7225425
Promoter ID:EPDNEW_H18457
Type:initiation region
Name:SH2B3_2
Description:SH2B adaptor protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18458  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,030 - 111,405,090EPDNEW
RGD ID:7225423
Promoter ID:EPDNEW_H18458
Type:initiation region
Name:SH2B3_1
Description:SH2B adaptor protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18457  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812111,405,924 - 111,405,984EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29605 AgrOrtholog
COSMIC SH2B3 COSMIC
Ensembl Genes ENSG00000111252 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341259 ENTREZGENE
  ENST00000341259.7 UniProtKB/Swiss-Prot
  ENST00000538307 ENTREZGENE
  ENST00000538307.1 UniProtKB/TrEMBL
  ENST00000550925.2 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.110 UniProtKB/Swiss-Prot
GTEx ENSG00000111252 GTEx
HGNC ID HGNC:29605 ENTREZGENE
Human Proteome Map SH2B3 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe_ZIP UniProtKB/Swiss-Prot
  Phe_ZIP_sf UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2B3_SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10019 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10019 ENTREZGENE
OMIM 605093 OMIM
PANTHER C2H2-TYPE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PRIMATE-EXPANDED PROTEIN FAMILY UniProtKB/TrEMBL
  PTHR10872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10872:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/TrEMBL
  Phe_ZIP UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148124 PharmGKB
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF109805 UniProtKB/Swiss-Prot
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7D5B980_HUMAN UniProtKB/TrEMBL
  B7Z7K6 ENTREZGENE, UniProtKB/TrEMBL
  B9EGG5 ENTREZGENE
  F5GYM4 ENTREZGENE, UniProtKB/TrEMBL
  O95184 ENTREZGENE
  Q59H48_HUMAN UniProtKB/TrEMBL
  Q96BA5_HUMAN UniProtKB/TrEMBL
  Q9UQQ2 ENTREZGENE
  R4GN84_HUMAN UniProtKB/TrEMBL
  SH2B3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B9EGG5 UniProtKB/Swiss-Prot
  O95184 UniProtKB/Swiss-Prot