SOX17

Protein identityUniProt · HPA

UniProt accession

Q9H6I2

Gene

SOX17

Ensembl

ENSG00000164736

Chromosome

8

Canonical length

414 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Nuclear membrane

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

Canonical amino-acid sequenceUniProt

414 residues, UniProt reviewed canonical sequence.

>Q9H6I2|SOX17
     1  MSSPDAGYAS DDQSQTQSAL PAVMAGLGPC PWAESLSPIG DMKVKGEAPA NSGAPAGAAG
    61  RAKGESRIRR PMNAFMVWAK DERKRLAQQN PDLHNAELSK MLGKSWKALT LAEKRPFVEE
   121  AERLRVQHMQ DHPNYKYRPR RRKQVKRLKR VEGGFLHGLA EPQAAALGPE GGRVAMDGLG
   181  LQFPEQGFPA GPPLLPPHMG GHYRDCQSLG APPLDGYPLP TPDTSPLDGV DPDPAFFAAP
   241  MPGDCPAAGT YSYAQVSDYA GPPEPPAGPM HPRLGPEPAG PSIPGLLAPP SALHVYYGAM
   301  GSPGAGGGRG FQMQPQHQHQ HQHQHHPPGP GQPSPPPEAL PCRDGTDPSQ PAELLGEVDR
   361  TEFEQYLHFV CKPEMGLPYQ GHDSGVNLPD SHGAISSVVS DASSAVYYCN YPDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX17 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

47 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX17.

Disease | AllUniProt

Conditions SOX17 is implicated in, by any mechanism.

• Vesicoureteral reflux 3 (VUR3) MIM:613674
• Pulmonary hypertension, primary, 7 (PPH7) MIM:621248

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 269 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pulmonary hypertension, primary, 7
• Pulmonary arterial hypertension
• Sox17- related disorders
• Vesicoureteral reflux 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.42

gnomAD pLI

0.88

gnomAD missense Z

0.77

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• angiogenesis
• cardiac cell fate determination
• cell migration involved in gastrulation
• cellular response to leukemia inhibitory factor
• common bile duct development
• embryonic foregut morphogenesis
• embryonic heart tube development
• embryonic heart tube morphogenesis
• endocardial cell differentiation
• endocardium formation
• endoderm formation
• endodermal cell fate determination
• endodermal cell fate specification
• endodermal digestive tract morphogenesis
• gallbladder development
• gene expression
• heart development
• heart formation
• heart looping
• inner cell mass cellular morphogenesis
• metanephros development
• negative regulation of canonical Wnt signaling pathway
• negative regulation of cell growth
• outflow tract morphogenesis
• positive regulation of DNA-templated transcription
• positive regulation of endodermal cell differentiation
• positive regulation of gene expression
• positive regulation of protein catabolic process
• positive regulation of stem cell differentiation
• positive regulation of transcription by RNA polymerase II
• protein destabilization
• protein stabilization
• regulation of DNA-templated transcription
• regulation of embryonic development
• regulation of stem cell division
• regulation of stem cell proliferation
• regulation of transcription by RNA polymerase II
• response to alkaloid
• rostrocaudal neural tube patterning
• signal transduction involved in regulation of gene expression
• spermatogenesis
• stem cell fate specification
• ureter development
• vasculogenesis
• Wnt signaling pathway
• cardiogenic plate morphogenesis
• regulation of cardiac cell fate specification

Molecular functions

• beta-catenin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nucleoplasm
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• Sox, C-terminal
• Sox 7/17/18, central domain
• High mobility group box domain superfamily
• SRY-related HMG-box transcription factor-like
• HMG (high mobility group) box
• Sox 17/18 central domain

KeywordsUniProt

• Activator
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation
• Wnt signaling pathway

InteractionsUniProt · HPA

Protein binding partners of SOX17 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CTNNB1
• LEF1
• TCF4