External Ids for SOX8 Gene
Previous GeneCards Identifiers for 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 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]
GeneCards Summary for SOX8 Gene
SOX8 (SRY-Box 8) is a Protein Coding gene. Diseases associated with SOX8 include Alpha Thalassemia-Intellectual Disability Syndrome Type 1 and Myoblastoma. Among its related pathways are ERK Signaling and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX9.
UniProtKB/Swiss-Prot for SOX8 Gene
May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5-[AT][AT]CAA[AT]G-3 (By similarity).