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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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).