Aliases for SOX5 Gene
External Ids for SOX5 Gene
Previous GeneCards Identifiers for SOX5 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. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SOX5 Gene
SOX5 (SRY-Box 5) is a Protein Coding gene. Diseases associated with SOX5 include Lamb-Shaffer Syndrome and Intellectual Disability. Among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is SOX6.
UniProtKB/Swiss-Prot for SOX5 Gene
Binds specifically to the DNA sequence 5-AACAAT-3. Activates transcription of COL2A1 and AGC1 in vitro.