SOX8

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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]

Description

SRY-box transcription factor 8

Protein family

Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

16:p13.3 (981770 - 986979)

Ensembl ID

ENSG00000005513  (ver. 99.38)

Orthologs

Mouse Sox8: ENSMUSG00000024176

UniProt

P57073

neXtProt

NX_P57073

Human splice variants
Mouse splice variants