1. Gene
  2. SOX17 - SRY-box transcription factor 17 Gene

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

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)

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  • 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

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