SIDT2 (SID1 transmembrane family member 2) - Rat Genome Database

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Gene: SIDT2 (SID1 transmembrane family member 2) Homo sapiens
Analyze
Symbol: SIDT2
Name: SID1 transmembrane family member 2
RGD ID: 1351240
HGNC Page HGNC:24272
Description: Predicted to enable several functions, including AP-1 adaptor complex binding activity; AP-2 adaptor complex binding activity; and RNA transmembrane transporter activity. Involved in RNA transport. Located in lysosomal membrane and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CGI-40; DKFZp686L17253; FLJ90656; SID1 transmembrane family, member 2
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
GRCh3811117,178,743 - 117,197,442 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,178,736 - 117,197,445 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,049,459 - 117,068,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,555,149 - 116,573,371 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411116,555,106 - 116,573,371NCBI
Celera11114,207,559 - 114,225,784 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,982,734 - 113,000,959 (+)NCBIHuRef
CHM1_111116,934,801 - 116,952,996 (+)NCBICHM1_1
T2T-CHM13v2.011117,194,038 - 117,212,742 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-bromohexadecanoic acid  (EXP)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
amsacrine  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
chlordecone  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
dexamethasone  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
hexane  (ISO)
hydralazine  (EXP)
hydroquinone  (EXP)
indometacin  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-nitrosodiethylamine  (ISO)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
potassium chromate  (EXP)
pyrethrins  (ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
sodium arsenate  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
lysosomal membrane  (IDA,IEA)
lysosome  (IBA,IDA,IEA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10810093   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15340161   PMID:16303743   PMID:17081983   PMID:17897319   PMID:19913121   PMID:20379614   PMID:20628086   PMID:21873635  
PMID:22810586   PMID:26186194   PMID:27046251   PMID:27846365   PMID:27987306   PMID:28277980   PMID:28514442   PMID:28785058   PMID:29752955   PMID:30382898   PMID:33066450   PMID:33961781  
PMID:34233476   PMID:34549712   PMID:34781815   PMID:34800582   PMID:36678241   PMID:37202201   PMID:37322007   PMID:37830567  


Genomics

Comparative Map Data
SIDT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811117,178,743 - 117,197,442 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11117,178,736 - 117,197,445 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,049,459 - 117,068,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,555,149 - 116,573,371 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411116,555,106 - 116,573,371NCBI
Celera11114,207,559 - 114,225,784 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,982,734 - 113,000,959 (+)NCBIHuRef
CHM1_111116,934,801 - 116,952,996 (+)NCBICHM1_1
T2T-CHM13v2.011117,194,038 - 117,212,742 (+)NCBIT2T-CHM13v2.0
Sidt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39945,849,155 - 45,869,299 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl945,849,155 - 45,866,556 (-)EnsemblGRCm39 Ensembl
GRCm38945,937,857 - 45,958,000 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl945,937,857 - 45,955,258 (-)EnsemblGRCm38mm10GRCm38
MGSCv37945,745,958 - 45,763,332 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36945,688,870 - 45,706,244 (-)NCBIMGSCv36mm8
Celera943,221,028 - 43,239,494 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.36NCBI
Sidt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8855,129,091 - 55,146,446 (-)NCBIGRCr8
mRatBN7.2846,232,379 - 46,248,913 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl846,232,383 - 46,248,700 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx851,732,758 - 51,749,077 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0850,011,525 - 50,027,844 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0847,875,797 - 47,892,116 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0850,230,335 - 50,246,979 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,230,339 - 50,246,656 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0848,854,804 - 48,871,396 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4848,909,652 - 48,925,969 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1848,918,429 - 48,934,295 (-)NCBI
Celera845,814,932 - 45,831,249 (-)NCBICelera
Cytogenetic Map8q22NCBI
Sidt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,505,453 - 18,522,082 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,505,453 - 18,521,667 (+)NCBIChiLan1.0ChiLan1.0
SIDT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29117,875,546 - 117,897,040 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111118,984,406 - 119,003,060 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011112,012,734 - 112,031,403 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111115,945,562 - 115,964,787 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11115,946,725 - 115,963,408 (+)Ensemblpanpan1.1panPan2
SIDT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1516,397,532 - 16,410,827 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,398,815 - 16,411,268 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,449,904 - 16,464,935 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0516,341,802 - 16,356,831 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl516,341,813 - 16,357,595 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1516,480,045 - 16,495,069 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0516,382,498 - 16,397,535 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0516,424,733 - 16,439,751 (-)NCBIUU_Cfam_GSD_1.0
Sidt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,505,528 - 99,522,309 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,426,937 - 2,443,721 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,426,937 - 2,443,721 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SIDT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,543,701 - 44,559,715 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,543,648 - 44,559,717 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,613,137 - 49,629,036 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SIDT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,550,091 - 108,568,470 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,549,792 - 108,569,172 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604317,486,021 - 17,504,758 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sidt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478412,635,078 - 12,651,713 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SIDT2
48 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3
pathogenic
NM_001040455.1(SIDT2):c.2346G>A (p.Glu782=) single nucleotide variant Malignant melanoma [RCV000069176] Chr11:117195825 [GRCh38]
Chr11:117066541 [GRCh37]
Chr11:116571751 [NCBI36]
Chr11:11q23.3
not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3
uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001040455.2(SIDT2):c.646G>A (p.Val216Ile) single nucleotide variant not specified [RCV004318946] Chr11:117182750 [GRCh38]
Chr11:117053466 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1494C>T (p.Ser498=) single nucleotide variant not specified [RCV004286325] Chr11:117190166 [GRCh38]
Chr11:117060882 [GRCh37]
Chr11:11q23.3
likely benign
NM_001040455.2(SIDT2):c.451A>G (p.Met151Val) single nucleotide variant not specified [RCV004281979] Chr11:117181952 [GRCh38]
Chr11:117052668 [GRCh37]
Chr11:11q23.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3
likely pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001040455.2(SIDT2):c.963-6A>G single nucleotide variant not provided [RCV000971787] Chr11:117186578 [GRCh38]
Chr11:117057294 [GRCh37]
Chr11:11q23.3
benign
NM_001040455.2(SIDT2):c.1923C>T (p.His641=) single nucleotide variant not provided [RCV000960124] Chr11:117192304 [GRCh38]
Chr11:117063020 [GRCh37]
Chr11:11q23.3
benign
NM_001040455.2(SIDT2):c.1892C>T (p.Thr631Met) single nucleotide variant not provided [RCV000960123] Chr11:117192273 [GRCh38]
Chr11:117062989 [GRCh37]
Chr11:11q23.3
benign
NM_001040455.2(SIDT2):c.1162C>T (p.Arg388Cys) single nucleotide variant not specified [RCV004295945] Chr11:117188710 [GRCh38]
Chr11:117059426 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
NM_001040455.2(SIDT2):c.1108G>A (p.Asp370Asn) single nucleotide variant not specified [RCV004295242] Chr11:117187648 [GRCh38]
Chr11:117058364 [GRCh37]
Chr11:11q23.3
uncertain significance
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1
uncertain significance
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3
pathogenic|uncertain significance|no classifications from unflagged records
NM_001040455.2(SIDT2):c.1996C>T (p.Arg666Cys) single nucleotide variant not specified [RCV004239233] Chr11:117192588 [GRCh38]
Chr11:117063304 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.565G>A (p.Val189Met) single nucleotide variant not specified [RCV004164347] Chr11:117182567 [GRCh38]
Chr11:117053283 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.233C>T (p.Ala78Val) single nucleotide variant not specified [RCV004144870] Chr11:117181465 [GRCh38]
Chr11:117052181 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1949C>T (p.Thr650Met) single nucleotide variant not specified [RCV004090312] Chr11:117192330 [GRCh38]
Chr11:117063046 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.358C>T (p.Pro120Ser) single nucleotide variant not specified [RCV004209502] Chr11:117181859 [GRCh38]
Chr11:117052575 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1183A>G (p.Thr395Ala) single nucleotide variant not specified [RCV004229470] Chr11:117188731 [GRCh38]
Chr11:117059447 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1020C>A (p.His340Gln) single nucleotide variant not specified [RCV004085237] Chr11:117187382 [GRCh38]
Chr11:117058098 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.189G>C (p.Glu63Asp) single nucleotide variant not specified [RCV004238863] Chr11:117181421 [GRCh38]
Chr11:117052137 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.524A>C (p.Lys175Thr) single nucleotide variant not specified [RCV004138137] Chr11:117182526 [GRCh38]
Chr11:117053242 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.703C>T (p.Arg235Cys) single nucleotide variant not specified [RCV004177520] Chr11:117183779 [GRCh38]
Chr11:117054495 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1882A>C (p.Lys628Gln) single nucleotide variant not specified [RCV004212701] Chr11:117192263 [GRCh38]
Chr11:117062979 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.2011G>A (p.Val671Met) single nucleotide variant not specified [RCV004220902] Chr11:117192603 [GRCh38]
Chr11:117063319 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.306G>A (p.Met102Ile) single nucleotide variant not specified [RCV004279460] Chr11:117181807 [GRCh38]
Chr11:117052523 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.256C>A (p.Gln86Lys) single nucleotide variant not specified [RCV004250624] Chr11:117181488 [GRCh38]
Chr11:117052204 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.638A>G (p.Asp213Gly) single nucleotide variant not specified [RCV004267070] Chr11:117182742 [GRCh38]
Chr11:117053458 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.2371G>A (p.Asp791Asn) single nucleotide variant not specified [RCV004274702] Chr11:117195850 [GRCh38]
Chr11:117066566 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1620A>T (p.Glu540Asp) single nucleotide variant not specified [RCV004287478] Chr11:117190625 [GRCh38]
Chr11:117061341 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1815C>T (p.Ser605=) single nucleotide variant not specified [RCV004361634] Chr11:117191957 [GRCh38]
Chr11:117062673 [GRCh37]
Chr11:11q23.3
likely benign
NM_001040455.2(SIDT2):c.138G>C (p.Glu46Asp) single nucleotide variant not specified [RCV004346493] Chr11:117179401 [GRCh38]
Chr11:117050117 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1985C>T (p.Ser662Leu) single nucleotide variant not specified [RCV004352779] Chr11:117192577 [GRCh38]
Chr11:117063293 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.622C>G (p.Pro208Ala) single nucleotide variant not specified [RCV004341563] Chr11:117182726 [GRCh38]
Chr11:117053442 [GRCh37]
Chr11:11q23.3
uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25
pathogenic
NM_001040455.2(SIDT2):c.1149C>T (p.Tyr383=) single nucleotide variant not provided [RCV003398151] Chr11:117187689 [GRCh38]
Chr11:117058405 [GRCh37]
Chr11:11q23.3
likely benign
NM_001040455.2(SIDT2):c.2128C>T (p.Arg710Cys) single nucleotide variant not provided [RCV003398152] Chr11:117193175 [GRCh38]
Chr11:117063891 [GRCh37]
Chr11:11q23.3
likely benign
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_001040455.2(SIDT2):c.394G>A (p.Val132Met) single nucleotide variant not specified [RCV004453499] Chr11:117181895 [GRCh38]
Chr11:117052611 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.992T>C (p.Ile331Thr) single nucleotide variant not specified [RCV004453502] Chr11:117186613 [GRCh38]
Chr11:117057329 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.457G>A (p.Asp153Asn) single nucleotide variant not specified [RCV004453500] Chr11:117181958 [GRCh38]
Chr11:117052674 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1163G>A (p.Arg388His) single nucleotide variant not specified [RCV004453496] Chr11:117188711 [GRCh38]
Chr11:117059427 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.784T>G (p.Phe262Val) single nucleotide variant not specified [RCV004453501] Chr11:117183860 [GRCh38]
Chr11:117054576 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1423G>C (p.Val475Leu) single nucleotide variant not specified [RCV004453497] Chr11:117189955 [GRCh38]
Chr11:117060671 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.392A>C (p.Tyr131Ser) single nucleotide variant not specified [RCV004453498] Chr11:117181893 [GRCh38]
Chr11:117052609 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1187G>A (p.Arg396Gln) single nucleotide variant not specified [RCV004669783] Chr11:117188735 [GRCh38]
Chr11:117059451 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1762G>A (p.Gly588Arg) single nucleotide variant not specified [RCV004669784] Chr11:117191904 [GRCh38]
Chr11:117062620 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1057C>T (p.Pro353Ser) single nucleotide variant not specified [RCV004669785] Chr11:117187419 [GRCh38]
Chr11:117058135 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.1418C>T (p.Thr473Met) single nucleotide variant not specified [RCV004669786] Chr11:117189400 [GRCh38]
Chr11:117060116 [GRCh37]
Chr11:11q23.3
uncertain significance
NM_001040455.2(SIDT2):c.544G>A (p.Val182Met) single nucleotide variant not specified [RCV004676411] Chr11:117182546 [GRCh38]
Chr11:117053262 [GRCh37]
Chr11:11q23.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7968
Count of miRNA genes:1182
Interacting mature miRNAs:1530
Transcripts:ENST00000278951, ENST00000324225, ENST00000431081, ENST00000524842, ENST00000524988, ENST00000525065, ENST00000525339, ENST00000525478, ENST00000526813, ENST00000527654, ENST00000528397, ENST00000529441, ENST00000529484, ENST00000530948, ENST00000531255, ENST00000531353, ENST00000532062, ENST00000532960
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
597296026GWAS1392100_Hphosphatidylethanolamine measurement QTL GWAS1392100 (human)0.0000007phosphatidylethanolamine measurement11117183243117183244Human
597140887GWAS1236961_H1-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement QTL GWAS1236961 (human)4e-111-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement11117183243117183244Human
596958869GWAS1078388_Hphosphatidylethanolamine measurement QTL GWAS1078388 (human)1e-13blood lipid amount (VT:0003949)11117183243117183244Human
597298075GWAS1394149_Hphosphatidylethanolamine measurement QTL GWAS1394149 (human)8e-13phosphatidylethanolamine measurement11117183243117183244Human
597298073GWAS1394147_Hphosphatidylethanolamine measurement QTL GWAS1394147 (human)9e-08phosphatidylethanolamine measurement11117183243117183244Human
597296409GWAS1392483_Hphosphatidylethanolamine measurement QTL GWAS1392483 (human)8e-12phosphatidylethanolamine measurement11117183243117183244Human
597298078GWAS1394152_Hglycerophospholipid measurement QTL GWAS1394152 (human)7e-12glycerophospholipid measurement11117183243117183244Human
597298077GWAS1394151_Hphosphatidylethanolamine measurement QTL GWAS1394151 (human)2e-12phosphatidylethanolamine measurement11117183243117183244Human
597297424GWAS1393498_Hphosphatidylethanolamine measurement QTL GWAS1393498 (human)0.0000003phosphatidylethanolamine measurement11117183243117183244Human
597298960GWAS1395034_Hsphingomyelin measurement QTL GWAS1395034 (human)0.0000001sphingomyelin measurement11117183243117183244Human
597424151GWAS1520225_Htriglyceride measurement QTL GWAS1520225 (human)7e-204triglyceride measurementblood triglyceride level (CMO:0000118)11117191654117191655Human
597294868GWAS1390942_Hglycerophospholipid measurement QTL GWAS1390942 (human)1e-10glycerophospholipid measurement11117183243117183244Human
597289879GWAS1385953_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1385953 (human)6e-13free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11117183243117183244Human
597034137GWAS1130211_Htriglyceride measurement QTL GWAS1130211 (human)1e-13triglyceride measurementblood triglyceride level (CMO:0000118)11117181816117181817Human
597297429GWAS1393503_Hcholesteryl ester measurement QTL GWAS1393503 (human)4e-09blood lipid amount (VT:0003949)11117183243117183244Human
597446541GWAS1542615_Hlow density lipoprotein cholesterol measurement QTL GWAS1542615 (human)3e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11117191654117191655Human
597271311GWAS1367385_Hproprotein convertase subtilisin/kexin type 7 measurement QTL GWAS1367385 (human)3e-295proprotein convertase subtilisin/kexin type 7 measurement11117180449117180450Human
597138443GWAS1234517_H1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement QTL GWAS1234517 (human)5e-141-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement11117183243117183244Human
597136010GWAS1232084_H1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) measurement QTL GWAS1232084 (human)6e-201-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) measurement11117183243117183244Human
597295236GWAS1391310_Hlysophosphatidylethanolamine 16:0 measurement QTL GWAS1391310 (human)1e-12blood lipid amount (VT:0003949)11117183243117183244Human
596958900GWAS1078419_Hphosphatidylethanolamine measurement QTL GWAS1078419 (human)2e-11phosphatidylethanolamine measurement11117183243117183244Human
597295673GWAS1391747_Hlysophosphatidylethanolamine 18:0 measurement QTL GWAS1391747 (human)5e-12blood lipid amount (VT:0003949)11117183243117183244Human
596987057GWAS1106576_Hmetabolic syndrome QTL GWAS1106576 (human)4e-08metabolic syndrome11117182959117182960Human
597292349GWAS1388423_Hcholesteryl ester 22:5 measurement QTL GWAS1388423 (human)0.000005blood lipid amount (VT:0003949)11117183243117183244Human
597298750GWAS1394824_Hcholesteryl ester measurement QTL GWAS1394824 (human)0.0000002blood lipid amount (VT:0003949)11117183243117183244Human
596987058GWAS1106577_Hmetabolic syndrome QTL GWAS1106577 (human)3e-08metabolic syndrome11117194291117194292Human
406958185GWAS607161_Hhigh density lipoprotein cholesterol measurement QTL GWAS607161 (human)1e-19high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11117183243117183244Human
597298609GWAS1394683_Hcholesteryl ester 18:3 measurement QTL GWAS1394683 (human)0.0000004blood lipid amount (VT:0003949)11117183243117183244Human
597109180GWAS1205254_Hplatelet component distribution width QTL GWAS1205254 (human)2e-13platelet component distribution widthplatelet distribution width (CMO:0001350)11117183243117183244Human
597297194GWAS1393268_Hphosphatidylethanolamine measurement QTL GWAS1393268 (human)1e-09phosphatidylethanolamine measurement11117183243117183244Human
597298600GWAS1394674_Hcholesteryl ester 16:2 measurement QTL GWAS1394674 (human)7e-10cholesteryl ester 16:2 measurement11117183243117183244Human
597300264GWAS1396338_Hmetabolic syndrome QTL GWAS1396338 (human)3e-08metabolic syndrome11117194291117194292Human
597293866GWAS1389940_Hphosphatidylethanolamine measurement QTL GWAS1389940 (human)4e-12phosphatidylethanolamine measurement11117183243117183244Human
597189665GWAS1285739_Hfree androgen index QTL GWAS1285739 (human)4e-08free androgen index11117181353117181359Human
597297955GWAS1394029_Hphosphatidylethanolamine measurement QTL GWAS1394029 (human)3e-15phosphatidylethanolamine measurement11117183243117183244Human
597296032GWAS1392106_Hphosphatidylethanolamine measurement QTL GWAS1392106 (human)2e-10phosphatidylethanolamine measurement11117183243117183244Human
597300263GWAS1396337_Hmetabolic syndrome QTL GWAS1396337 (human)4e-08metabolic syndrome11117182959117182960Human
597181606GWAS1277680_Hasialoglycoprotein receptor 1 measurement QTL GWAS1277680 (human)7e-18asialoglycoprotein receptor 1 measurement11117195063117195064Human
597295451GWAS1391525_Hlysophosphatidylethanolamine 18:0 measurement QTL GWAS1391525 (human)5e-13blood lipid amount (VT:0003949)11117183243117183244Human
597297881GWAS1393955_Hphosphatidylethanolamine measurement QTL GWAS1393955 (human)8e-10phosphatidylethanolamine measurement11117183243117183244Human
597293663GWAS1389737_Hphosphatidylethanolamine measurement QTL GWAS1389737 (human)2e-09phosphatidylethanolamine measurement11117183243117183244Human
597136208GWAS1232282_H1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) measurement QTL GWAS1232282 (human)1e-171-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) measurement11117183243117183244Human
597295443GWAS1391517_Hglycerophospholipid measurement QTL GWAS1391517 (human)0.000002glycerophospholipid measurement11117183243117183244Human
597295441GWAS1391515_Hglycerophospholipid measurement QTL GWAS1391515 (human)3e-08glycerophospholipid measurement11117183243117183244Human
597299025GWAS1395099_Hcholesteryl ester 20:4 measurement QTL GWAS1395099 (human)0.000004blood lipid amount (VT:0003949)11117183243117183244Human
597420247GWAS1516321_Htriglyceride measurement QTL GWAS1516321 (human)9e-12triglyceride measurementblood triglyceride level (CMO:0000118)11117190751117190752Human
597294679GWAS1390753_Hlysophosphatidylethanolamine 18:1 measurement QTL GWAS1390753 (human)1e-08blood lipid amount (VT:0003949)11117183243117183244Human
597140167GWAS1236241_H1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement QTL GWAS1236241 (human)2e-11phosphatidylethanolamine measurement11117183243117183244Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
597453176GWAS1549250_Hhigh density lipoprotein cholesterol measurement QTL GWAS1549250 (human)4e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11117191654117191655Human
597454070GWAS1550144_Htotal cholesterol measurement QTL GWAS1550144 (human)8e-30total cholesterol measurementblood total cholesterol level (CMO:0000051)11117191654117191655Human
597174514GWAS1270588_Hprotein CASC4 measurement QTL GWAS1270588 (human)5e-13protein CASC4 measurement11117195063117195064Human
597297781GWAS1393855_Hphosphatidylethanolamine measurement QTL GWAS1393855 (human)2e-14phosphatidylethanolamine measurement11117183243117183244Human
597450611GWAS1546685_Hapolipoprotein B measurement QTL GWAS1546685 (human)8e-21apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)11117191654117191655Human
597298026GWAS1394100_Hphosphatidylethanolamine measurement QTL GWAS1394100 (human)7e-09phosphatidylethanolamine measurement11117183243117183244Human
597140705GWAS1236779_H1-stearoyl-2-arachidonoyl-GPE (18:0/20:4) measurement QTL GWAS1236779 (human)1e-13blood lipid amount (VT:0003949)11117183243117183244Human
597293665GWAS1389739_Hphosphatidylethanolamine measurement QTL GWAS1389739 (human)3e-09phosphatidylethanolamine measurement11117183243117183244Human
597299042GWAS1395116_Hphosphatidylethanolamine measurement QTL GWAS1395116 (human)2e-18phosphatidylethanolamine measurement11117183243117183244Human
597293664GWAS1389738_Hphosphatidylethanolamine measurement QTL GWAS1389738 (human)5e-10blood lipid amount (VT:0003949)11117183243117183244Human

Markers in Region
D11S2284E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,068,002 - 117,068,117UniSTSGRCh37
Build 3611116,573,212 - 116,573,327RGDNCBI36
Celera11114,225,625 - 114,225,740RGD
Cytogenetic Map11q23.3UniSTS
HuRef11113,000,800 - 113,000,915UniSTS
SHGC-146847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,049,366 - 117,049,468UniSTSGRCh37
Build 3611116,554,576 - 116,554,678RGDNCBI36
Celera11114,206,986 - 114,207,088RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,982,161 - 112,982,263UniSTS
TNG Radiation Hybrid Map1153855.0UniSTS
SIDT2_9663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,067,805 - 117,068,336UniSTSGRCh37
Build 3611116,573,015 - 116,573,546RGDNCBI36
Celera11114,225,428 - 114,225,959RGD
HuRef11113,000,603 - 113,001,134UniSTS
RH18240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,067,865 - 117,068,042UniSTSGRCh37
Build 3611116,573,075 - 116,573,252RGDNCBI36
Celera11114,225,488 - 114,225,665RGD
Cytogenetic Map11q23.3UniSTS
HuRef11113,000,663 - 113,000,840UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
SGC34431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,066,357 - 117,066,506UniSTSGRCh37
Build 3611116,571,567 - 116,571,716RGDNCBI36
Celera11114,223,980 - 114,224,129RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,999,155 - 112,999,304UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS
Whitehead-RH Map11515.5UniSTS
STS-H39887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,066,392 - 117,066,589UniSTSGRCh37
Build 3611116,571,602 - 116,571,799RGDNCBI36
Celera11114,224,015 - 114,224,212RGD
Cytogenetic Map11q23.3UniSTS
HuRef11112,999,190 - 112,999,387UniSTS
GeneMap99-GB4 RH Map11373.28UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2249 4952 1725 2350 5 622 1951 465 2268 7294 6463 53 3717 850 1739 1615 172 1

Sequence


Ensembl Acc Id: ENST00000278951   ⟹   ENSP00000278951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,179,181 - 117,197,444 (+)Ensembl
Ensembl Acc Id: ENST00000324225   ⟹   ENSP00000314023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,178,743 - 117,197,442 (+)Ensembl
Ensembl Acc Id: ENST00000431081   ⟹   ENSP00000399635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,179,223 - 117,197,445 (+)Ensembl
Ensembl Acc Id: ENST00000524842   ⟹   ENSP00000436983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,179,369 - 117,186,223 (+)Ensembl
Ensembl Acc Id: ENST00000524988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,189,025 - 117,190,282 (+)Ensembl
Ensembl Acc Id: ENST00000525065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,190,728 - 117,193,005 (+)Ensembl
Ensembl Acc Id: ENST00000525339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,179,181 - 117,191,692 (+)Ensembl
Ensembl Acc Id: ENST00000525478   ⟹   ENSP00000435890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,192,579 - 117,196,504 (+)Ensembl
Ensembl Acc Id: ENST00000526813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,187,627 - 117,191,929 (+)Ensembl
Ensembl Acc Id: ENST00000527654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,188,991 - 117,189,439 (+)Ensembl
Ensembl Acc Id: ENST00000528397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,181,444 - 117,182,540 (+)Ensembl
Ensembl Acc Id: ENST00000529441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,185,951 - 117,192,613 (+)Ensembl
Ensembl Acc Id: ENST00000529484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,190,683 - 117,194,151 (+)Ensembl
Ensembl Acc Id: ENST00000530948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,181,464 - 117,184,139 (+)Ensembl
Ensembl Acc Id: ENST00000531255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,182,098 - 117,184,090 (+)Ensembl
Ensembl Acc Id: ENST00000531353   ⟹   ENSP00000435004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,179,688 - 117,182,598 (+)Ensembl
Ensembl Acc Id: ENST00000532062   ⟹   ENSP00000432432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,192,617 - 117,197,279 (+)Ensembl
Ensembl Acc Id: ENST00000532960   ⟹   ENSP00000431176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,178,736 - 117,181,831 (+)Ensembl
Ensembl Acc Id: ENST00000620360   ⟹   ENSP00000482762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,178,932 - 117,197,441 (+)Ensembl
Ensembl Acc Id: ENST00000628876   ⟹   ENSP00000486114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11117,179,223 - 117,195,984 (+)Ensembl
RefSeq Acc Id: NM_001040455   ⟹   NP_001035545
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,178,743 - 117,197,442 (+)NCBI
GRCh3711117,049,626 - 117,068,161 (+)NCBI
Build 3611116,555,149 - 116,573,371 (+)NCBI Archive
Celera11114,207,559 - 114,225,784 (+)RGD
HuRef11112,982,734 - 113,000,959 (+)ENTREZGENE
CHM1_111116,934,801 - 116,952,996 (+)NCBI
T2T-CHM13v2.011117,194,038 - 117,212,742 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035545 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD34036 (Get FASTA)   NCBI Sequence Viewer  
  AAI14523 (Get FASTA)   NCBI Sequence Viewer  
  AAI14960 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88807 (Get FASTA)   NCBI Sequence Viewer  
  AGC94566 (Get FASTA)   NCBI Sequence Viewer  
  BAC11427 (Get FASTA)   NCBI Sequence Viewer  
  BAC11641 (Get FASTA)   NCBI Sequence Viewer  
  BAF85190 (Get FASTA)   NCBI Sequence Viewer  
  BAF85663 (Get FASTA)   NCBI Sequence Viewer  
  BAG63012 (Get FASTA)   NCBI Sequence Viewer  
  BAG64149 (Get FASTA)   NCBI Sequence Viewer  
  EAW67283 (Get FASTA)   NCBI Sequence Viewer  
  EAW67284 (Get FASTA)   NCBI Sequence Viewer  
  EAW67285 (Get FASTA)   NCBI Sequence Viewer  
  EAW67286 (Get FASTA)   NCBI Sequence Viewer  
  EAW67287 (Get FASTA)   NCBI Sequence Viewer  
  EAW67288 (Get FASTA)   NCBI Sequence Viewer  
  EAW67289 (Get FASTA)   NCBI Sequence Viewer  
  EAW67290 (Get FASTA)   NCBI Sequence Viewer  
  EAW67291 (Get FASTA)   NCBI Sequence Viewer  
  EAW67292 (Get FASTA)   NCBI Sequence Viewer  
  EAW67293 (Get FASTA)   NCBI Sequence Viewer  
  EAW67294 (Get FASTA)   NCBI Sequence Viewer  
  EAW67295 (Get FASTA)   NCBI Sequence Viewer  
  EAW67296 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278951.7
  ENSP00000314023
  ENSP00000314023.4
  ENSP00000399635.2
  ENSP00000431176.1
  ENSP00000432432.1
  ENSP00000435004.1
  ENSP00000435890.1
  ENSP00000436983.2
  ENSP00000486114.1
GenBank Protein Q8NBJ9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001035545   ⟸   NM_001040455
- Peptide Label: precursor
- UniProtKB: Q8NBY7 (UniProtKB/Swiss-Prot),   Q9Y357 (UniProtKB/Swiss-Prot),   Q8NBJ9 (UniProtKB/Swiss-Prot),   L7X6U2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000482762   ⟸   ENST00000620360
Ensembl Acc Id: ENSP00000435004   ⟸   ENST00000531353
Ensembl Acc Id: ENSP00000432432   ⟸   ENST00000532062
Ensembl Acc Id: ENSP00000431176   ⟸   ENST00000532960
Ensembl Acc Id: ENSP00000314023   ⟸   ENST00000324225
Ensembl Acc Id: ENSP00000486114   ⟸   ENST00000628876
Ensembl Acc Id: ENSP00000399635   ⟸   ENST00000431081
Ensembl Acc Id: ENSP00000436983   ⟸   ENST00000524842
Ensembl Acc Id: ENSP00000435890   ⟸   ENST00000525478
Ensembl Acc Id: ENSP00000278951   ⟸   ENST00000278951

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NBJ9-F1-model_v2 AlphaFold Q8NBJ9 1-832 view protein structure

Promoters
RGD ID:6789364
Promoter ID:HG_KWN:14271
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000278951,   ENST00000392956,   NM_001040455,   UC001PQG.1,   UC001PQI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611116,554,601 - 116,555,312 (+)MPROMDB
RGD ID:6789360
Promoter ID:HG_KWN:14272
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:UC001PQJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611116,568,426 - 116,568,926 (+)MPROMDB
RGD ID:7222227
Promoter ID:EPDNEW_H16859
Type:initiation region
Name:SIDT2_1
Description:SID1 transmembrane family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16861  EPDNEW_H16860  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,178,743 - 117,178,803EPDNEW
RGD ID:7222231
Promoter ID:EPDNEW_H16860
Type:initiation region
Name:SIDT2_2
Description:SID1 transmembrane family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16859  EPDNEW_H16861  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,178,907 - 117,178,967EPDNEW
RGD ID:7222229
Promoter ID:EPDNEW_H16861
Type:initiation region
Name:SIDT2_3
Description:SID1 transmembrane family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16859  EPDNEW_H16860  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811117,179,224 - 117,179,284EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24272 AgrOrtholog
COSMIC SIDT2 COSMIC
Ensembl Genes ENSG00000149577 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278951.11 UniProtKB/TrEMBL
  ENST00000324225 ENTREZGENE
  ENST00000324225.9 UniProtKB/Swiss-Prot
  ENST00000431081.6 UniProtKB/TrEMBL
  ENST00000524842.5 UniProtKB/TrEMBL
  ENST00000525478.5 UniProtKB/TrEMBL
  ENST00000531353.1 UniProtKB/TrEMBL
  ENST00000532062.1 UniProtKB/TrEMBL
  ENST00000532960.5 UniProtKB/TrEMBL
  ENST00000628876.2 UniProtKB/TrEMBL
GTEx ENSG00000149577 GTEx
HGNC ID HGNC:24272 ENTREZGENE
Human Proteome Map SIDT2 Human Proteome Map
InterPro SID1_TM_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51092 UniProtKB/Swiss-Prot
NCBI Gene 51092 ENTREZGENE
OMIM 617551 OMIM
PANTHER PTHR12185 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SID1 TRANSMEMBRANE FAMILY MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SID-1_RNA_chan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134910333 PharmGKB
UniProt C9JBG5_HUMAN UniProtKB/TrEMBL
  E9PMC3_HUMAN UniProtKB/TrEMBL
  E9PME7_HUMAN UniProtKB/TrEMBL
  E9PPN9_HUMAN UniProtKB/TrEMBL
  F5H8L4_HUMAN UniProtKB/TrEMBL
  G3V172_HUMAN UniProtKB/TrEMBL
  H0YEI3_HUMAN UniProtKB/TrEMBL
  L7X6U2 ENTREZGENE, UniProtKB/TrEMBL
  Q1RMF0_HUMAN UniProtKB/TrEMBL
  Q24JR2_HUMAN UniProtKB/TrEMBL
  Q8NBJ9 ENTREZGENE
  Q8NBY7 ENTREZGENE
  Q9Y357 ENTREZGENE
  SIDT2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8NBY7 UniProtKB/Swiss-Prot
  Q9Y357 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SIDT2  SID1 transmembrane family member 2    SID1 transmembrane family, member 2  Symbol and/or name change 5135510 APPROVED