SOX17 (SRY-box transcription factor 17)

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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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	54,457,935 - 54,460,892 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	54,457,935 - 54,460,892 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	55,370,495 - 55,373,452 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	8	55,370,495 - 55,373,456 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	55,533,048 - 55,536,009 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	55,533,047 - 55,535,484	NCBI
Celera	8	51,361,039 - 51,364,000 (+)	NCBI
Cytogenetic Map	8	q11.23	NCBI
HuRef	8	50,838,617 - 50,841,578 (+)	NCBI		HuRef
CHM1_1	8	55,422,260 - 55,425,221 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

biliary atresia (ISS)

cholangiocarcinoma (ISO)

Colorectal Neoplasms (EXP)

Teratogenesis (EXP)

vesicoureteral reflux (EXP,IAGP)

Vesicoureteral Reflux 3 (IAGP)

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

chromatin (ISA)

nucleoplasm (TAS)

nucleus (IDA,ISO)

transcription regulator complex (IDA,ISO)

Molecular Function

beta-catenin binding (IPI)

DNA binding (ISO)

DNA-binding transcription activator activity, RNA polymerase II-specific (IBA,ISO)

DNA-binding transcription factor activity (ISO)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,ISA,ISO,ISS)

protein binding (IPI,ISO)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)

sequence-specific DNA binding (ISO)

transcription factor binding (IPI)

transcription regulatory region sequence-specific DNA binding (ISO,ISS)

Molecular Pathway Annotations Click to see Annotation Detail View

Wnt signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal dominant inheritance (IAGP)

Hydronephrosis (IAGP)

Hydroureter (IAGP)

Polyhydramnios (IAGP)

Vesicoureteral reflux (IAGP)

References

References - curated


1.	Dumur CI, etal., Exp Mol Pathol. 2010 Dec;89(3):227-35. Epub 2010 Sep 9.
2.	GOA_HUMAN data from the GO Consortium
3.	OMIM Disease Annotation Pipeline
4.	Pipeline to import KEGG annotations from KEGG into RGD
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions
7.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	54,457,935 - 54,460,892 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	54,457,935 - 54,460,892 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	55,370,495 - 55,373,452 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	8	55,370,495 - 55,373,456 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	55,533,048 - 55,536,009 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	55,533,047 - 55,535,484	NCBI
Celera	8	51,361,039 - 51,364,000 (+)	NCBI
Cytogenetic Map	8	q11.23	NCBI
HuRef	8	50,838,617 - 50,841,578 (+)	NCBI		HuRef
CHM1_1	8	55,422,260 - 55,425,221 (+)	NCBI		CHM1_1

Sox17
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	4,561,151 - 4,567,624 (-)	NCBI	GRCm39		mm39
GRCm38	1	4,490,928 - 4,497,426 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	4,490,931 - 4,497,354 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	4,481,009 - 4,486,494 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	1	4,481,009 - 4,486,494 (-)	NCBI			mm8
Celera	1	4,507,797 - 4,513,282 (-)	NCBI		Celera
Cytogenetic Map	1	A1	NCBI
cM Map	1	1.65	NCBI

Sox17
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	5	15,016,660 - 15,022,228 (+)	NCBI
Rnor_6.0 Ensembl	5	14,890,408 - 14,895,907 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	5	14,890,318 - 14,895,907 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	5	19,675,563 - 19,681,084 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	15,241,405 - 15,246,904 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	5	15,244,440 - 15,246,899 (+)	NCBI
Celera	5	14,398,084 - 14,403,591 (+)	NCBI		Celera
Cytogenetic Map	5	q12	NCBI

Sox17
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955454	13,689,403 - 13,690,019 (+)	NCBI	ChiLan1.0	ChiLan1.0

SOX17
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	8	48,257,287 - 48,259,808 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	48,257,287 - 48,259,808 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	8	50,883,088 - 50,885,542 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

SOX17
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	29	5,979,261 - 5,981,124 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	29	5,979,092 - 5,981,504 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Sox17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936496	1,248,582 - 1,251,406 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SOX17
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	76,852,230 - 76,857,139 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	76,854,218 - 76,857,143 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	83,968,236 - 83,971,155 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SOX17
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	50,523,816 - 50,527,360 (+)	NCBI
ChlSab1.1 Ensembl	8	50,524,893 - 50,527,847 (+)	Ensembl

Sox17
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624735	1,276,382 - 1,278,584 (-)	NCBI

Position Markers

RH93135

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	55,372,753 - 55,372,905	UniSTS	GRCh37
Build 36	8	55,535,306 - 55,535,458	RGD	NCBI36
Celera	8	51,363,297 - 51,363,449	RGD
Cytogenetic Map	8	q11.23	UniSTS
HuRef	8	50,840,875 - 50,841,027	UniSTS
GeneMap99-GB4 RH Map	8	302.57	UniSTS

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

Medium

1020

860

386

282

2199

881

647

656

818

1194

1327

Low

1289

1386

1227

496

292

355

1992

1277

2937

300

743

598

142

1457

Below cutoff

560

568

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_028171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB073988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025905	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC030209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471068	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA874945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584816	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000297316 ⟹ ENSP00000297316

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	54,457,935 - 54,460,892 (+)	Ensembl

RefSeq Acc Id:

NM_022454 ⟹ NP_071899

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	54,457,935 - 54,460,892 (+)	NCBI
GRCh37	8	55,370,495 - 55,373,456 (+)	ENTREZGENE
Build 36	8	55,533,048 - 55,536,009 (+)	NCBI Archive
HuRef	8	50,838,617 - 50,841,578 (+)	ENTREZGENE
CHM1_1	8	55,422,260 - 55,425,221 (+)	NCBI

Sequence:

show sequence

GCAGTGTCACTAGGCCGGCTGGGGGCCCTGGGTACGCTGTAGACCAGACCGCGACAGGCCAGAA
CACGGGCGGCGGCTTCGGGCCGGGAGACCCGCGCAGCCCTCGGGGCATCTCAGTGCCTCACTCC
CCACCCCCTCCCCCGGGTCGGGGGAGGCGGCGCGTCCGGCGGAGGGTTGAGGGGAGCGGGGCAG
GCCTGGAGCGCCATGAGCAGCCCGGATGCGGGATACGCCAGTGACGACCAGAGCCAGACCCAGA
GCGCGCTGCCCGCGGTGATGGCCGGGCTGGGCCCCTGCCCCTGGGCCGAGTCGCTGAGCCCCAT
CGGGGACATGAAGGTGAAGGGCGAGGCGCCGGCGAACAGCGGAGCACCGGCCGGGGCCGCGGGC
CGAGCCAAGGGCGAGTCCCGTATCCGGCGGCCGATGAACGCTTTCATGGTGTGGGCTAAGGACG
AGCGCAAGCGGCTGGCGCAGCAGAATCCAGACCTGCACAACGCCGAGTTGAGCAAGATGCTGGG
CAAGTCGTGGAAGGCGCTGACGCTGGCGGAGAAGCGGCCCTTCGTGGAGGAGGCAGAGCGGCTG
CGCGTGCAGCACATGCAGGACCACCCCAACTACAAGTACCGGCCGCGGCGGCGCAAGCAGGTGA
AGCGGCTGAAGCGGGTGGAGGGCGGCTTCCTGCACGGCCTGGCTGAGCCGCAGGCGGCCGCGCT
GGGCCCCGAGGGCGGCCGCGTGGCCATGGACGGCCTGGGCCTCCAGTTCCCCGAGCAGGGCTTC
CCCGCCGGCCCGCCGCTGCTGCCTCCGCACATGGGCGGCCACTACCGCGACTGCCAGAGTCTGG
GCGCGCCTCCGCTCGACGGCTACCCGTTGCCCACGCCCGACACGTCCCCGCTGGACGGCGTGGA
CCCCGACCCGGCTTTCTTCGCCGCCCCGATGCCCGGGGACTGCCCGGCGGCCGGCACCTACAGC
TACGCGCAGGTCTCGGACTACGCTGGCCCCCCGGAGCCTCCCGCCGGTCCCATGCACCCCCGAC
TCGGCCCAGAGCCCGCGGGTCCCTCGATTCCGGGCCTCCTGGCGCCACCCAGCGCCCTTCACGT
GTACTACGGCGCGATGGGCTCGCCCGGGGCGGGCGGCGGGCGCGGCTTCCAGATGCAGCCGCAA
CACCAGCACCAGCACCAGCACCAGCACCACCCCCCGGGCCCCGGACAGCCGTCGCCCCCTCCGG
AGGCACTGCCCTGCCGGGACGGCACGGACCCCAGTCAGCCCGCCGAGCTCCTCGGGGAGGTGGA
CCGCACGGAATTTGAACAGTATCTGCACTTCGTGTGCAAGCCTGAGATGGGCCTCCCCTACCAG
GGGCATGACTCCGGTGTGAATCTCCCCGACAGCCACGGGGCCATTTCCTCGGTGGTGTCCGACG
CCAGCTCCGCGGTATATTACTGCAACTATCCTGACGTGTGACAGGTCCCTGATCCGCCCCAGCC
TGCAGGCCAGAAGCAGTGTTACACACTTCCTGGAGGAGCTAAGGAAATCCTCAGACTCCTGGGT
TTTTGTTGTTGCTGTTGTTGTTTTTTAAAAGGTGTGTTGGCATATAATTTATGGTAATTTATTT
TGTCTGCCACTTGAACAGTTTGGGGGGGTGAGGTTTCATTTAAAATTTGTTCAGAGATTTGTTT
CCCATAGTTGGATTGTCAAAACCCTATTTCCAAGTTCAAGTTAACTAGCTTTGAATGTGTCCCA
AAACAGCTTCCTCCATTTCCTGAAAGTTTATTGATCAAAGAAATGTTGTCCTGGGTGTGTTTTT
TCAATCTTCTAAAAAATAAAATCTGGAATCCTGCTTTTTTGCTCTACTAGTACCTCTGTCACAC
TAGTCTTATCAAAAACCAGTTCTTAAGATCAATGTTAAGTTTATTAGTTAATGTAAATTTCTCA
TCCTCGAAAAGGGTGAACATAAATGCCTTTAAGGAGTATATCTAAAAATAAACATTAGGATATC
TAAGTTTGATGTAATTGTTTCAGGAAGGAAAAAAGAAAAGCATTCTGGAATGAGCCTACTTCAA
GTAATCTTAGTTTCTAAAACTAACAGTTAATATTTTCAATTCCAGTATATCACTTTAAGTAGAA
GGGGATGTCCAAGTAATTTTGGTTTTCTAACTGTTGAATCATAAGCTTGACCTGCCCCCAGAGG
CTTTTTGGATGTTTTTATCTGTGTTTTGCCATCTCTTTACACTCCTCGACATTCAGTTTACCTT
AATCTTCACATTTTTACACCTTGGGAAGTGGCAAGCATCGCTGGGTTTAAGATAAAGGAGTCAC
AAAAACTAATCAAAATAAAATTTGCATTATGACAACTTTTAATACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_071899	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH30209	(Get FASTA)	NCBI Sequence Viewer
	AAI11366	(Get FASTA)	NCBI Sequence Viewer
	AAI11771	(Get FASTA)	NCBI Sequence Viewer
	BAB15277	(Get FASTA)	NCBI Sequence Viewer
	BAB83867	(Get FASTA)	NCBI Sequence Viewer
	EAW86748	(Get FASTA)	NCBI Sequence Viewer
	Q9H6I2	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_071899 ⟸ NM_022454

- UniProtKB:

Q9H6I2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSSPDAGYASDDQSQTQSALPAVMAGLGPCPWAESLSPIGDMKVKGEAPANSGAPAGAAGRAKG
ESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAELSKMLGKSWKALTLAEKRPFVEEAERLRVQH
MQDHPNYKYRPRRRKQVKRLKRVEGGFLHGLAEPQAAALGPEGGRVAMDGLGLQFPEQGFPAGP
PLLPPHMGGHYRDCQSLGAPPLDGYPLPTPDTSPLDGVDPDPAFFAAPMPGDCPAAGTYSYAQV
SDYAGPPEPPAGPMHPRLGPEPAGPSIPGLLAPPSALHVYYGAMGSPGAGGGRGFQMQPQHQHQ
HQHQHHPPGPGQPSPPPEALPCRDGTDPSQPAELLGEVDRTEFEQYLHFVCKPEMGLPYQGHDS
GVNLPDSHGAISSVVSDASSAVYYCNYPDV

hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	8	54,457,935 - 54,457,995	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	8	55,532,946 - 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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)