SOX17 - SRY-box transcription factor 17 Gene

Homo sapiens

Also known as VUR3

Gene ID: 64321 | Gene type: protein coding

About SOX17

Cytogenetic location: 8q11.23 Genomic coordinates (GRCh38): 8:54,457,935-54,460,892 (from NCBI)

This gene has 1 transcript (splice variant), 199 orthologues, 20 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 12.0), fat (RPKM 9.8) and 14 other tissues.

Summary

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 forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]

SOX17 Products(1)

mRNA	Protein	Name
NM_022454.4	NP_071899.1	transcription factor SOX-17

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	17875931	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	17875931	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17875931	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cardiac cell fate determination	IMP IMP: Inferred from mutant phenotype	19736317	GOA
involved in endoderm formation	IDA IDA: Inferred from direct assay	18682240	GOA
involved in metanephros development	IMP IMP: Inferred from mutant phenotype	20960469	GOA
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	18413743	GOA
involved in negative regulation of cell growth	IMP IMP: Inferred from mutant phenotype	18413743	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22292085	GOA
involved in protein destabilization	IMP IMP: Inferred from mutant phenotype	17875931	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	17875931	GOA
involved in ureter development	IMP IMP: Inferred from mutant phenotype	20960469	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	17875931	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	19736317	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOX17 Protein Structure

HMG_box

Sox17_18_mid

0
100
200
300
414 a.a.

Protein Preferred Names

Protein Names

transcription factor SOX-17

SRY (sex determining region Y)-box 17

Related Diseases

Diseases

Alias

Vesicoureteral Reflux 3

VUR3

Familial Vesicoureteral Reflux

Familial Vur

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension	Pah
Idiopathic Pulmonary Arterial Hypertension	Idiopathic Pulmonary Hypertension
Primary Pulmonary Hypertension	PPH1
Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated	Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht
Pph	Familial Primary Pulmonary Hypertension
Sporadic Primary Pulmonary Hypertension	Pht
Fpah	Familial Pulmonary Arterial Hypertension
Hereditary Pulmonary Arterial Hypertension	Heritable Pulmonary Arterial Hypertension
Ayerza Syndrome	Fpph
Ppht	Ipah
Primary Pulmonary Arterial Hypertension	Pulmonary Hypertension, Familial Primary
Hypertension, Pulmonary, Primary, Type 1	Ayerza'S Syndrome
Pah - [Pulmonary Arterial Hypertension]	Arrillaga Ayerza Syndrome

Adenocarcinoma In Situ

Seminoma

Seminoma, Pure

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Biliary Atresia

Congenital Biliary Atresia	Isolated Biliary Atresia
Isolated Atresia Of Bile Ducts	Non-Syndromic Biliary Atresia
Atresia Of Bile Duct	Biliary Atresia, Congenital
Atresia Of Bile Ducts	Bile Duct Atresia
Congenital Bile Duct Atresia	Ba - [Biliary Atresia]
Impervious Bile Duct	Atresia Of Common Duct
Biliary Duct Atresia	Bile Ductal Atresia
Cystic Duct Atresia

Hypotrichosis-Lymphedema-Telangiectasia Syndrome

HLTS	Hypotrichosis Lymphedema Telangiectasia Syndrome
Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Uterine Corpus Endometrial Carcinoma

Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Mixed Germ Cell Cancer

Mixed Germ Cell Tumor	Mixed Germ Cell Neoplasm
Mixed Germ Cell Tumour	Mixed Teratoma And Seminoma

Germ Cell Cancer

Malignant Germ Cell Tumor	Neoplasms, Germ Cell And Embryonal
Germ Cell Neoplasm	Germ Cell Tumour
Malignant Tumor Of The Germ Cell	Neoplasms Germ Cell
Malignant Germ Cell Neoplasm

Squamous Cell Papilloma

Papilloma	Epidermoid Papilloma
Papilloma, Squamous Cell

Oligodendroglioma

Oligodendroglial Neoplasm	Oligodendroglial Tumor
Oligodendroglial Tumors	Well Differentiated Oligodendroglioma

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease	Obstructive Disease Of The Pulmonary Veins
Pvod	Isolated Pulmonary Venous Sclerosis
Venous Form Of Primary Pulmonary Hypertension	Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Cerebral Arterial Disease

Cerebral Arterial Diseases

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4

PEOA4	Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 4	Autosomal Dominant Progressive External Ophthalmoplegia 4
Cpeo	Graefe Disease
Mitochondrial Ocular Myopathy	Ocular Myopathy Of Von Graefe-Fuchs
Progressive External Ophthalmoplegia Autosomal Dominant 4	Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
Kearns-Sayre Syndrome

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161024	AC1Q3QWB	Inhibitor	99.39%	Unkown
HY-RS13589	SOX17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SOX17	MGD	MGI:107543
Canis familiaris	SOX17	VGNC	VGNC:46676
Rattus norvegicus	SOX17	RGD	RGD:1305371
Bos taurus	SOX17	VGNC	VGNC:35144
Macaca mulatta	SOX17	VGNC	VGNC:104497
Others	SOX17	NCBI

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