SOX8

Also known as SRY-box 8, SRY-box transcription factor 8

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.

Gene data

SOX8

Name: SRY-box transcription factor 8
Type: protein-coding
Position: 981,444–986,979 (+)
Ensembl: ENSG00000005513
RefSeq RNA: NM_014587.5
RefSeq protein: NP_055402.2

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].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II osteoblast differentiation in utero embryonic development neural crest cell migration neural crest cell migration morphogenesis of an epithelium signal transduction signal transduction

Molecular function

RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific cis-regulatory region sequence-specific DNA binding DNA binding

Cellular component

chromatin nucleus nucleus nucleus nucleus nucleoplasm transcription regulator complex cytoplasm

Pathways

Pre-implantation embryo Somatic sex determination Mammalian disorder of sexual development

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 7950
exact match: identifiers.org/ncbigene/30812
genomic end: 1036979
genomic start: 981770
cytogenetic location: 16p13.3

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Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 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 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 intellectual disability found in haemoglobin H-related mental retardation (ATR-16 syndrome).