SOX17 (SRY-box transcription factor 17) - Rat Genome Database
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Gene: SOX17 (SRY-box transcription factor 17) Homo sapiens
Analyze
Symbol: SOX17
Name: SRY-box transcription factor 17
RGD ID: 1313358
HGNC Page HGNC
Description: Exhibits beta-catenin binding activity and transcription factor binding activity. Involved in several processes, including animal organ development; protein destabilization; and protein stabilization. Localizes to nucleus and transcription regulator complex. Implicated in vesicoureteral reflux.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ22252; SRY (sex determining region Y)-box 17; SRY box 17; SRY-box 17; SRY-related HMG-box transcription factor SOX17; transcription factor SOX-17; VUR3
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
GRCh38.p13 Ensembl854,457,935 - 54,460,892 (+)EnsemblGRCh38hg38GRCh38
GRCh38854,457,935 - 54,460,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37855,370,495 - 55,373,452 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37855,370,495 - 55,373,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36855,533,048 - 55,536,009 (+)NCBINCBI36hg18NCBI36
Build 34855,533,047 - 55,535,484NCBI
Celera851,361,039 - 51,364,000 (+)NCBI
Cytogenetic Map8q11.23NCBI
HuRef850,838,617 - 50,841,578 (+)NCBIHuRef
CHM1_1855,422,260 - 55,425,221 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-bromo-2'-deoxyuridine  (EXP)
5-fluorouracil  (EXP,ISO)
6-aminonicotinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetic acid  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
calciol  (ISO)
camptothecin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CHIR 99021  (EXP)
Chlorophacinone  (EXP)
chloroprene  (ISO)
chrysene  (ISO)
columbamine  (EXP)
diethylstilbestrol  (EXP)
dimethyl sulfoxide  (EXP)
diniconazole  (EXP)
dinoseb  (EXP)
diquat  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
fenvalerate  (ISO)
fluazinam  (EXP)
flusilazole  (EXP)
folic acid  (ISO)
gefitinib  (EXP)
genistein  (ISO)
hexaconazole  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
lipopolysaccharide  (ISO)
maleic acid  (EXP)
methamphetamine  (ISO)
mianserin  (EXP)
mifepristone  (ISO)
N-nitrosodiethylamine  (EXP)
naphthalene  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
resveratrol  (EXP,ISO)
ritanserin  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP)
sorafenib  (EXP)
sunitinib  (EXP)
tetrachloroethene  (ISO)
tetraphene  (ISO)
thalidomide  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
vandetanib  (EXP)
vinclozolin  (ISO)
ziprasidone  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure morphogenesis  (IBA)
angiogenesis  (IBA,ISO,ISS)
cardiac cell fate determination  (IMP)
cardiogenic plate morphogenesis  (ISO,ISS)
cell differentiation  (IBA)
cell migration involved in gastrulation  (IEA,ISO)
cellular response to leukemia inhibitory factor  (IEA,ISO)
common bile duct development  (IEA,ISO)
embryonic foregut morphogenesis  (ISO,ISS)
embryonic heart tube development  (ISO,ISS)
embryonic heart tube morphogenesis  (ISO,ISS)
embryonic organ development  (ISO)
endocardial cell differentiation  (ISO,ISS)
endocardium formation  (ISO,ISS)
endoderm development  (ISO)
endoderm formation  (IDA)
endodermal cell fate determination  (IEA,ISO)
endodermal cell fate specification  (ISO,ISS)
endodermal digestive tract morphogenesis  (ISO,ISS)
gall bladder development  (IEA,ISO)
gastrulation  (ISO)
heart development  (IBA)
heart formation  (TAS)
heart looping  (ISO,ISS)
inner cell mass cellular morphogenesis  (IEA,ISO)
metanephros development  (IMP)
negative regulation of canonical Wnt signaling pathway  (IMP,ISO)
negative regulation of cell growth  (IMP)
negative regulation of Wnt signaling pathway  (ISO)
negative regulation of Wnt signaling pathway involved in heart development  (IEA,ISO)
outflow tract morphogenesis  (ISO,ISS)
positive regulation of cell differentiation  (IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of protein catabolic process  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,ISO)
positive regulation of transcription, DNA-templated  (ISO,ISS)
protein destabilization  (IMP)
protein stabilization  (IMP)
regulation of cardiac cell fate specification  (IEA,ISO)
regulation of cell differentiation  (ISO)
regulation of embryonic development  (ISO,ISS)
regulation of stem cell division  (IEA,ISO)
regulation of stem cell proliferation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (ISO,ISS)
regulation of transcription, DNA-templated  (IBA,ISO,ISS)
rostrocaudal neural tube patterning  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISO)
spermatogenesis  (IEA,ISO)
stem cell differentiation  (ISO)
stem cell fate specification  (IEA,ISO)
ureter development  (IMP)
vasculogenesis  (IBA,ISO,ISS)
Wnt signaling pathway  (IEA)

Cellular Component

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

Human Phenotype
References

Additional References at PubMed
PMID:11786926   PMID:12100890   PMID:12194848   PMID:12477932   PMID:14702039   PMID:15163629   PMID:16344560   PMID:17875931   PMID:18413743   PMID:18523156   PMID:18564921   PMID:18682240  
PMID:18940723   PMID:18997786   PMID:19274049   PMID:19301122   PMID:19369635   PMID:19549530   PMID:19736317   PMID:20364137   PMID:20716954   PMID:20960469   PMID:21305474   PMID:21362573  
PMID:21457403   PMID:21514720   PMID:21760905   PMID:21873635   PMID:21957254   PMID:22161215   PMID:22292085   PMID:22348788   PMID:22846201   PMID:22921431   PMID:22961961   PMID:23044318  
PMID:23061670   PMID:23136251   PMID:23169777   PMID:23241958   PMID:23403728   PMID:23474492   PMID:23813959   PMID:23918253   PMID:23999170   PMID:24097068   PMID:24407731   PMID:25053769  
PMID:25106407   PMID:25291942   PMID:25310020   PMID:25543152   PMID:25596186   PMID:25674225   PMID:25789956   PMID:25868860   PMID:25953442   PMID:25971583   PMID:26411902   PMID:26463399  
PMID:26496610   PMID:26741346   PMID:26861571   PMID:27132888   PMID:27738313   PMID:28132771   PMID:28148542   PMID:28237397   PMID:28381471   PMID:29191544   PMID:29458175   PMID:29650961  
PMID:30029678   PMID:30527956   PMID:30777052   PMID:31073164   PMID:31148336   PMID:31405379   PMID:31444787   PMID:31583686   PMID:31664088   PMID:31823782   PMID:32236579   PMID:32433020  


Genomics

Comparative Map Data
SOX17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl854,457,935 - 54,460,892 (+)EnsemblGRCh38hg38GRCh38
GRCh38854,457,935 - 54,460,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37855,370,495 - 55,373,452 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37855,370,495 - 55,373,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36855,533,048 - 55,536,009 (+)NCBINCBI36hg18NCBI36
Build 34855,533,047 - 55,535,484NCBI
Celera851,361,039 - 51,364,000 (+)NCBI
Cytogenetic Map8q11.23NCBI
HuRef850,838,617 - 50,841,578 (+)NCBIHuRef
CHM1_1855,422,260 - 55,425,221 (+)NCBICHM1_1
Sox17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914,561,151 - 4,567,624 (-)NCBIGRCm39mm39
GRCm3814,490,928 - 4,497,426 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14,490,931 - 4,497,354 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714,481,009 - 4,486,494 (-)NCBIGRCm37mm9NCBIm37
MGSCv3614,481,009 - 4,486,494 (-)NCBImm8
Celera14,507,797 - 4,513,282 (-)NCBICelera
Cytogenetic Map1A1NCBI
cM Map11.65NCBI
Sox17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2515,016,660 - 15,022,228 (+)NCBI
Rnor_6.0 Ensembl514,890,408 - 14,895,907 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0514,890,318 - 14,895,907 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0519,675,563 - 19,681,084 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4515,241,405 - 15,246,904 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1515,244,440 - 15,246,899 (+)NCBI
Celera514,398,084 - 14,403,591 (+)NCBICelera
Cytogenetic Map5q12NCBI
Sox17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545413,689,403 - 13,690,019 (+)NCBIChiLan1.0ChiLan1.0
SOX17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1848,257,287 - 48,259,808 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl848,257,287 - 48,259,808 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0850,883,088 - 50,885,542 (+)NCBIMhudiblu_PPA_v0panPan3
SOX17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl295,979,261 - 5,981,124 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1295,979,092 - 5,981,504 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Sox17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364961,248,582 - 1,251,406 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl476,852,230 - 76,857,139 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1476,854,218 - 76,857,143 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2483,968,236 - 83,971,155 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SOX17
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1850,523,816 - 50,527,360 (+)NCBI
ChlSab1.1 Ensembl850,524,893 - 50,527,847 (+)Ensembl
Sox17
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247351,276,382 - 1,278,584 (-)NCBI

Position Markers
RH93135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37855,372,753 - 55,372,905UniSTSGRCh37
Build 36855,535,306 - 55,535,458RGDNCBI36
Celera851,363,297 - 51,363,449RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,840,875 - 50,841,027UniSTS
GeneMap99-GB4 RH Map8302.57UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:295
Count of miRNA genes:259
Interacting mature miRNAs:271
Transcripts:ENST00000297316
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.


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 9
Medium 1020 860 386 28 282 8 2199 881 647 71 656 818 24 1194 1327 1
Low 1289 1386 1227 496 292 355 1992 1277 2937 300 743 598 142 1 10 1457 3 2
Below cutoff 10 560 90 86 568 87 62 6 73 11 5 25 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297316   ⟹   ENSP00000297316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl854,457,935 - 54,460,892 (+)Ensembl
RefSeq Acc Id: NM_022454   ⟹   NP_071899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38854,457,935 - 54,460,892 (+)NCBI
GRCh37855,370,495 - 55,373,456 (+)ENTREZGENE
Build 36855,533,048 - 55,536,009 (+)NCBI Archive
HuRef850,838,617 - 50,841,578 (+)ENTREZGENE
CHM1_1855,422,260 - 55,425,221 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_071899   ⟸   NM_022454
- UniProtKB: Q9H6I2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000297316   ⟸   ENST00000297316
Protein Domains
HMG box   Sox C-terminal

Promoters
RGD ID:7213323
Promoter ID:EPDNEW_H12406
Type:multiple initiation site
Name:SOX17_1
Description:SRY-box 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38854,457,935 - 54,457,995EPDNEW
RGD ID:6807044
Promoter ID:HG_KWN:61302
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_022454
Position:
Human AssemblyChrPosition (strand)Source
Build 36855,532,946 - 55,533,446 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn) single nucleotide variant Vesicoureteral reflux 3 [RCV000001140]|not provided [RCV000895009]|not specified [RCV000430409] Chr8:54459525 [GRCh38]
Chr8:55372085 [GRCh37]
Chr8:8q11.23
pathogenic|benign|likely benign|uncertain significance
NM_022454.4(SOX17):c.532G>T (p.Gly178Cys) single nucleotide variant Vesicoureteral reflux 3 [RCV000001141]|not provided [RCV000782261] Chr8:54459282 [GRCh38]
Chr8:55371842 [GRCh37]
Chr8:8q11.23
pathogenic|uncertain significance
SOX17, 6-BP INS, NT51 insertion Vesicoureteral reflux 3 [RCV000001142] Chr8:8q12-q13 pathogenic
NM_022454.4(SOX17):c.1223dup (p.Tyr408Ter) duplication not provided [RCV000722511] Chr8:54459972..54459973 [GRCh38]
Chr8:55372532..55372533 [GRCh37]
Chr8:8q11.23
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 copy number loss See cases [RCV000135764] Chr8:53996579..56163431 [GRCh38]
Chr8:54909139..57075990 [GRCh37]
Chr8:55071692..57238544 [NCBI36]
Chr8:8q11.23-12.1
likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1
pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_022454.4(SOX17):c.456G>C (p.Glu152Asp) single nucleotide variant Vesicoureteral reflux [RCV000626259] Chr8:54459206 [GRCh38]
Chr8:55371766 [GRCh37]
Chr8:8q11.23
likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_022454.4(SOX17):c.807_808delinsAT (p.Met270Leu) indel not provided [RCV000722597] Chr8:54459557..54459558 [GRCh38]
Chr8:55372117..55372118 [GRCh37]
Chr8:8q11.23
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.23(chr8:55365190-55384137)x1 copy number loss not provided [RCV000747575] Chr8:55365190..55384137 [GRCh37]
Chr8:8q11.23
benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1
pathogenic
NM_022454.4(SOX17):c.549C>T (p.Phe183=) single nucleotide variant not provided [RCV000940910] Chr8:54459299 [GRCh38]
Chr8:55371859 [GRCh37]
Chr8:8q11.23
likely benign
NM_022454.4(SOX17):c.1046G>T (p.Ser349Ile) single nucleotide variant not provided [RCV000762511] Chr8:54459796 [GRCh38]
Chr8:55372356 [GRCh37]
Chr8:8q11.23
uncertain significance
NM_022454.4(SOX17):c.479C>T (p.Ala160Val) single nucleotide variant not provided [RCV000973698] Chr8:54459229 [GRCh38]
Chr8:55371789 [GRCh37]
Chr8:8q11.23
benign
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
NM_022454.4(SOX17):c.499_520del (p.Leu167fs) deletion not provided [RCV001008583] Chr8:54459239..54459260 [GRCh38]
Chr8:55371799..55371820 [GRCh37]
Chr8:8q11.23
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_022454.4(SOX17):c.273A>T (p.Pro91=) single nucleotide variant not provided [RCV000890770] Chr8:54458411 [GRCh38]
Chr8:55370971 [GRCh37]
Chr8:8q11.23
benign
NM_022454.4(SOX17):c.308-9A>G single nucleotide variant not provided [RCV000934307] Chr8:54459049 [GRCh38]
Chr8:55371609 [GRCh37]
Chr8:8q11.23
likely benign
NC_000008.11:g.54459704_54459709GCACCA[5] microsatellite Chronic kidney disease [RCV001171360] Chr8:54459698..54459699 [GRCh38]
Chr8:55372258..55372259 [GRCh37]
Chr8:8q11.23
uncertain significance
NC_000008.10:g.(?_54978308)_(56436786_?)dup duplication not provided [RCV001033025] Chr8:54978308..56436786 [GRCh37]
Chr8:8q11.23-12.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18122 AgrOrtholog
COSMIC SOX17 COSMIC
Ensembl Genes ENSG00000164736 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297316 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297316 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164736 GTEx
HGNC ID HGNC:18122 ENTREZGENE
Human Proteome Map SOX17 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sox7/17/18_central UniProtKB/Swiss-Prot
  Sox_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64321 UniProtKB/Swiss-Prot
NCBI Gene 64321 ENTREZGENE
OMIM 610928 OMIM
  613674 OMIM
Pfam HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sox17_18_mid UniProtKB/Swiss-Prot
PharmGKB PA38296 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOX_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q2NKK5_HUMAN UniProtKB/TrEMBL
  Q2T9L5_HUMAN UniProtKB/TrEMBL
  Q9H6I2 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-25 SOX17  SRY-box transcription factor 17  SOX17  SRY-box 17  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX17  SRY-box 17    SRY box 17  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX17  SRY box 17    SRY (sex determining region Y)-box 17  Symbol and/or name change 5135510 APPROVED
2011-08-17 SOX17  SRY (sex determining region Y)-box 17  SOX17  SRY (sex determining region Y)-box 17  Symbol and/or name change 5135510 APPROVED