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 Genes
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)
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)
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)
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
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  


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
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_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 (+)EnsemblSpeTri2.0
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
76 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 Developmental and epileptic encephalopathy, 67 [RCV000988910]|Hepatoblastoma [RCV001843460]|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]
Chr12:111885310 [GRCh37]
Chr12:12q24.12		 uncertain significance
NM_005475.3(SH2B3):c.494C>G (p.Thr165Ser) single nucleotide variant 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]
Chr12:111885295 [GRCh37]
Chr12:12q24.12		 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 not provided [RCV000970253] Chr12:111448097 [GRCh38]
Chr12:111885901 [GRCh37]
Chr12:12q24.12		 benign
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 not provided [RCV000907845]|not specified [RCV001818801] Chr12:111447339 [GRCh38]
Chr12:111885143 [GRCh37]
Chr12:12q24.12		 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 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.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 specified [RCV001817130] Chr12:111446790 [GRCh38]
Chr12:111884594 [GRCh37]
Chr12:12q24.12		 benign
NM_005475.3(SH2B3):c.1426C>T (p.Leu476Phe) single nucleotide variant 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 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 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 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] 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] 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
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.

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
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1798 2411 1394 280 1629 231 2449 1217 1201 274 1101 1502 61 1202 1440 1
Low 640 580 331 344 320 234 1908 979 2523 145 358 111 113 1 2 1348 4 2
Below cutoff 2 1 8 1 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

Reference Sequences
RefSeq Acc Id: ENST00000341259   ⟹   ENSP00000345492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12111,405,923 - 111,451,623 (+)Ensembl
RefSeq Acc Id: ENST00000538307   ⟹   ENSP00000440597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12111,434,862 - 111,449,202 (+)Ensembl
RefSeq 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  
Reference Protein Sequences
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:
RefSeq Acc Id: ENSP00000440597   ⟸   ENST00000538307
RefSeq Acc Id: ENSP00000473529   ⟸   ENST00000550925
RefSeq 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
- UniProtKB: B7Z7K6 (UniProtKB/TrEMBL)
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
- UniProtKB: B7Z7K6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226671   ⟸   XM_054370696
- Peptide Label: isoform X6
- UniProtKB: B7Z7K6 (UniProtKB/TrEMBL)
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 PRIMATE-EXPANDED PROTEIN FAMILY UniProtKB/TrEMBL
  PTHR10872 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10872:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12138:SF142 UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, 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