Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64321
Gene name Gene Name - the full gene name approved by the HGNC.	SRY-box transcription factor 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SOX17
Synonyms (NCBI Gene) Gene synonyms aliases	PPH7, VUR3
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q11.23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after for

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607082	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1586329828	CTGGGCCCCGAGGGCGGCCGCG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054849	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blot	24449834
MIRT723987	hsa-miR-200a-5p	HITS-CLIP	19536157
MIRT723986	hsa-miR-200b-5p	HITS-CLIP	19536157
MIRT723985	hsa-miR-134-5p	HITS-CLIP	19536157
MIRT723984	hsa-miR-3118	HITS-CLIP	19536157
MIRT723983	hsa-miR-3164	HITS-CLIP	19536157
MIRT723982	hsa-miR-6820-3p	HITS-CLIP	19536157
MIRT723981	hsa-miR-6808-3p	HITS-CLIP	19536157
MIRT723980	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT723979	hsa-miR-2113	HITS-CLIP	19536157
MIRT723978	hsa-miR-5010-3p	HITS-CLIP	19536157
MIRT653226	hsa-miR-5695	HITS-CLIP	23824327
MIRT653225	hsa-miR-3135b	HITS-CLIP	23824327
MIRT653224	hsa-miR-1287-5p	HITS-CLIP	23824327
MIRT653223	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT653222	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT653221	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653220	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653219	hsa-miR-6079	HITS-CLIP	23824327
MIRT653218	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT653217	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT723987	hsa-miR-200a-5p	Luciferase reporter assay	26277621
MIRT732462	hsa-miR-1228-3p	Luciferase reporter assay, qRT-PCR, Western blotting	34006305
MIRT736950	hsa-miR-21-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	32236579
MIRT732462	hsa-miR-1228-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34006305
MIRT723987	hsa-miR-200a-5p	HITS-CLIP	19536157
MIRT723986	hsa-miR-200b-5p	HITS-CLIP	19536157
MIRT723985	hsa-miR-134-5p	HITS-CLIP	19536157
MIRT723984	hsa-miR-3118	HITS-CLIP	19536157
MIRT723983	hsa-miR-3164	HITS-CLIP	19536157
MIRT723982	hsa-miR-6820-3p	HITS-CLIP	19536157
MIRT723981	hsa-miR-6808-3p	HITS-CLIP	19536157
MIRT723980	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT723979	hsa-miR-2113	HITS-CLIP	19536157
MIRT723978	hsa-miR-5010-3p	HITS-CLIP	19536157
MIRT653226	hsa-miR-5695	HITS-CLIP	23824327
MIRT653225	hsa-miR-3135b	HITS-CLIP	23824327
MIRT653224	hsa-miR-1287-5p	HITS-CLIP	23824327
MIRT653223	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT653222	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT653221	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653220	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653219	hsa-miR-6079	HITS-CLIP	23824327
MIRT653218	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT653217	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT1380394	hsa-miR-1255a	CLIP-seq
MIRT1380395	hsa-miR-1255b	CLIP-seq
MIRT1380396	hsa-miR-151-5p	CLIP-seq
MIRT1380397	hsa-miR-151b	CLIP-seq
MIRT1380398	hsa-miR-3131	CLIP-seq
MIRT1380399	hsa-miR-3153	CLIP-seq
MIRT1380400	hsa-miR-323-3p	CLIP-seq
MIRT1380401	hsa-miR-3605-5p	CLIP-seq
MIRT1380402	hsa-miR-3611	CLIP-seq
MIRT1380403	hsa-miR-4261	CLIP-seq
MIRT1380404	hsa-miR-4668-5p	CLIP-seq
MIRT1380405	hsa-miR-4699-5p	CLIP-seq
MIRT1380406	hsa-miR-4761-5p	CLIP-seq
MIRT1380407	hsa-miR-539	CLIP-seq
MIRT1380408	hsa-miR-548ag	CLIP-seq
MIRT1380409	hsa-miR-548ai	CLIP-seq
MIRT1380410	hsa-miR-548c-3p	CLIP-seq
MIRT1380411	hsa-miR-611	CLIP-seq
MIRT2113892	hsa-miR-1302	CLIP-seq
MIRT2113893	hsa-miR-181a	CLIP-seq
MIRT2113894	hsa-miR-181b	CLIP-seq
MIRT2113895	hsa-miR-181c	CLIP-seq
MIRT2113896	hsa-miR-181d	CLIP-seq
MIRT2113897	hsa-miR-3122	CLIP-seq
MIRT2113898	hsa-miR-330-3p	CLIP-seq
MIRT2113899	hsa-miR-3913-5p	CLIP-seq
MIRT2113900	hsa-miR-4262	CLIP-seq
MIRT2113901	hsa-miR-4298	CLIP-seq
MIRT2113902	hsa-miR-642b	CLIP-seq
MIRT2336855	hsa-miR-3065-5p	CLIP-seq
MIRT2336856	hsa-miR-3120-3p	CLIP-seq
MIRT2394982	hsa-miR-141	CLIP-seq
MIRT2394983	hsa-miR-200a	CLIP-seq
MIRT2630384	hsa-miR-3180-5p	CLIP-seq
MIRT2630385	hsa-miR-520a-5p	CLIP-seq
MIRT2630386	hsa-miR-525-5p	CLIP-seq

Show/Hide all(108)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001570	Process	Vasculogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001656	Process	Metanephros development	IMP	20960469
GO:0001706	Process	Endoderm formation	IBA
GO:0001706	Process	Endoderm formation	IDA	18682240
GO:0001714	Process	Endodermal cell fate specification	IEA
GO:0001714	Process	Endodermal cell fate specification	ISS
GO:0001828	Process	Inner cell mass cellular morphogenesis	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003142	Process	Cardiogenic plate morphogenesis	IEA
GO:0003142	Process	Cardiogenic plate morphogenesis	ISS
GO:0003143	Process	Embryonic heart tube morphogenesis	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	17875931
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17875931, 18682240
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	19736317
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007369	Process	Gastrulation	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007493	Process	Endodermal cell fate determination	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	17875931
GO:0009888	Process	Tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021903	Process	Rostrocaudal neural tube patterning	IEA
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	18413743
GO:0031648	Process	Protein destabilization	IMP	17875931
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0035987	Process	Endodermal cell differentiation	IEA
GO:0042074	Process	Cell migration involved in gastrulation	IEA
GO:0043279	Process	Response to alkaloid	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22292085
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0048568	Process	Embryonic organ development	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	ISS
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048866	Process	Stem cell fate specification	IEA
GO:0050821	Process	Protein stabilization	IMP	17875931
GO:0060214	Process	Endocardium formation	IEA
GO:0060214	Process	Endocardium formation	ISS
GO:0060913	Process	Cardiac cell fate determination	IMP	19736317
GO:0060914	Process	Heart formation	TAS	19736317
GO:0060956	Process	Endocardial cell differentiation	IEA
GO:0060956	Process	Endocardial cell differentiation	ISS
GO:0061009	Process	Common bile duct development	IEA
GO:0061010	Process	Gallbladder development	IEA
GO:0061031	Process	Endodermal digestive tract morphogenesis	IEA
GO:0061031	Process	Endodermal digestive tract morphogenesis	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	17875931, 19736317
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:0072189	Process	Ureter development	IMP	20960469
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	18413743, 20960469
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:1903226	Process	Positive regulation of endodermal cell differentiation	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000035	Process	Regulation of stem cell division	IEA
GO:2000043	Process	Regulation of cardiac cell fate specification	IEA
GO:2000043	Process	Regulation of cardiac cell fate specification	ISS
GO:2000738	Process	Positive regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
610928	18122	ENSG00000164736

Protein

UniProt ID

Q9H6I2

Protein name

Transcription factor SOX-17

Protein function

Acts as a transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated C

PDB

2YUL , 4A3N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00505	HMG_box	68 → 136	HMG (high mobility group) box	Domain
PF12067	Sox17_18_mid	203 → 253	Sox 17/18 central domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in colon and rectum. {ECO:0000269|

Sequence

MSSPDAGYASDDQSQTQSALPAVMAGLGPCPWAESLSPIGDMKVKGEAPANSGAPAGAAG
RAKGESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAELSKMLGKSWKALTLAEKRPFVEE
AERLRVQHMQDHPNYKYRPRRRKQVKRLKRVEGGFLHGLAEPQAAALGPEGGRVAMDGLG
LQFPEQGFPAGPPLLPPHMGGHYRDCQSLGAPPLDGYPLPTPDTSPLDGVDPDPAFFAAP
MPGDCPAAGTYSYAQVSDYAGPPEPPAGPMHPRLGPEPAGPSIPGLLAPPSALHVYYGAM
GSPGAGGGRGFQMQPQHQHQHQHQHHPPGPGQPSPPPEALPCRDGTDPSQPAELLGEVDR
TEFEQYLHFVCKPEMGLPYQGHDSGVNLPDSHGAISSVVSDASSAVYYCNYPDV

Sequence length

414

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		Deactivation of the beta-catenin transactivating complex

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Pulmonary arterial hypertension	pulmonary arterial hypertension	N/A	N/A	GenCC
Vesicoureteral Reflux	familial vesicoureteral reflux, vesicoureteral reflux 3	N/A	N/A	GenCC, ClinVar
vesicoureteral reflux	Vesicoureteral reflux	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	35618278
Adenocarcinoma	Associate	31444787
Adenocarcinoma	Inhibit	39522642
Adenocarcinoma in Situ	Associate	31444787
Adenoma	Inhibit	18413743
Adenoma	Associate	21154739, 27245242
Adenoma Villous	Associate	21154739
Breast Neoplasms	Associate	20040597, 25789956, 27449045
Breast Neoplasms	Inhibit	25971583, 27188720
Brenner Tumor	Associate	36788073
Cakut	Associate	28566479
Capillary Malformation Arteriovenous Malformation	Associate	35618278
Carcinogenesis	Associate	18413743, 22921431
Carcinogenesis	Inhibit	25106407
Carcinoma Endometrioid	Stimulate	36788073
Carcinoma Hepatocellular	Inhibit	20716954, 25106407
Carcinoma Hepatocellular	Associate	35465267
Carcinoma Non Small Cell Lung	Inhibit	18413743
Carcinoma Non Small Cell Lung	Associate	32138766, 32430478, 35793574
Carcinoma Ovarian Epithelial	Associate	36788073, 36853778, 37195085
Carcinoma Renal Cell	Stimulate	36788073
Carcinoma Squamous Cell	Inhibit	31444787
Carcinoma Squamous Cell	Associate	32644288
Cerebral Infarction	Associate	37370144
Colonic Neoplasms	Associate	27245242
Colorectal Neoplasms	Inhibit	18413743
Colorectal Neoplasms	Associate	20716954, 27245242, 34337040
Endometrial Neoplasms	Associate	25994056, 27738313, 30935961, 32236579, 36788073, 36853778
Esophageal Neoplasms	Inhibit	18413743
Esophageal Neoplasms	Associate	22921431, 27513557
Esophageal Squamous Cell Carcinoma	Associate	22499122, 24936140
Genital Neoplasms Female	Associate	36853778, 37195085
Glioma	Associate	26337424
Heart Defects Congenital	Associate	30029678, 35618278
Heart Failure	Associate	31148336
Hemangiosarcoma	Associate	36788073
Hypertension	Associate	37659973
Intracranial Aneurysm	Associate	20364137, 22961961, 30994044, 31250579, 37659973
Leukemia Myeloid Acute	Associate	20795789
Lung Neoplasms	Associate	22846201, 29270240, 32138766
Lymphatic Metastasis	Associate	25789956, 25971583
MASS syndrome	Associate	37391754
Moyamoya disease 1	Associate	30994044
Neoplasm Invasiveness	Associate	36604653
Neoplasm Metastasis	Associate	27513557, 28148542
Neoplasms	Inhibit	20716954, 22928040, 25106407, 25971583, 27738313, 36803573
Neoplasms	Associate	25287138, 25789956, 25994056, 27729459, 31405379, 32138766, 32430478, 37391754, 37643784
Neoplasms Cystic Mucinous and Serous	Associate	28148542, 36788073
Neoplasms Germ Cell and Embryonal	Associate	36788073
Neoplasms Glandular and Epithelial	Inhibit	31444787
Oligodendroglioma	Associate	23474492, 25674225
Osteoarthritis	Associate	29806631
Ovarian Diseases	Associate	39529086
Ovarian Neoplasms	Associate	36788073, 36853778, 37643784, 39529086
Pancreatic Intraductal Neoplasms	Associate	22173550
Pancreatitis	Associate	22136171
Prostatic Neoplasms	Associate	31682594
Pulmonary Arterial Hypertension	Associate	29650961, 30029678, 33952808, 35346192, 35618278, 36344664
Rectal Neoplasms	Associate	34642262
Reperfusion Injury	Associate	28334711
Retinal Dysplasia	Associate	21154739, 22173550, 22921431
Sarcoma	Associate	39491746
Seminoma	Associate	35269507
Solitary Pulmonary Nodule	Associate	32138766
Squamous Cell Carcinoma of Head and Neck	Associate	31405379
Squamous Intraepithelial Lesions	Associate	32644288
Squamous Intraepithelial Lesions of the Cervix	Associate	32644288
Stomach Neoplasms	Associate	22161215, 33928818
Testicular Germ Cell Tumor	Associate	33224314, 37508506
Thyroid Cancer Papillary	Associate	27022736
Triple Negative Breast Neoplasms	Associate	37391754
Unilateral Breast Neoplasms	Stimulate	20040597
Urinary Bladder Neoplasms	Associate	32420368
Uterine Cervical Neoplasms	Associate	24647315, 36803573
Vascular Remodeling	Associate	35618278

SOX17 (SRY-box transcription factor 17)