SOX17 - SRY-box transcription factor 17 Gene

Also Known as VUR3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64321

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

HMG_box: HMG (high mobility group) box (68 - 136)

Sox17_18_mid

Sox17_18_mid: Sox 17/18 central domain (201 - 323)

Sox17_18_mid

Sox17_18_mid: Sox 17/18 central domain (316 - 412)

  • 0
  • 100
  • 200
  • 300
  • 414 a.a.
Protein Preferred Names Protein Names

transcription factor SOX-17

  • SRY (sex determining region Y)-box 17

SOX17 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SOX17 Q9H6I2 CTNNB1 Homo sapiens P35222 17875931
Cross: Cross-species interaction Intra: Intraspecies interaction

SOX17 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81454 SOX17 Antibody (YA1199) IHC-P Human
HY-P81454A SOX17 Antibody (YA1199)(PBS only) IHC-P Human

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

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