Aliases for SOX5 Gene
External Ids 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 (Sex Determining Region Y)-Box 5) is a Protein Coding gene. Diseases associated with SOX5 include developmental and speech delay due to sox5 deficiency and 12p12.1 microdeletion syndrome. Among its related pathways are ERK Signaling and Endochondral Ossification. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is SOX3.
UniProtKB/Swiss-Prot for SOX5 Gene
Binds specifically to the DNA sequence 5-AACAAT-3. Activates transcription of COL2A1 and AGC1 in vitro