Aliases for SIX5 Gene
External Ids for SIX5 Gene
Previous HGNC Symbols for SIX5 Gene
Previous GeneCards Identifiers for SIX5 Gene
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
GeneCards Summary for SIX5 Gene
SIX5 (SIX Homeobox 5) is a Protein Coding gene. Diseases associated with SIX5 include six5-related branchiootorenal spectrum disorders and branchiootorenal syndrome 2. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is SIX6.
UniProtKB/Swiss-Prot for SIX5 Gene
Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5-GGTGTCAG-3 motif present in the ARE regulatory element of ATP1A1. Binds a 5-TCA[AG][AG]TTNC-3 motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter (By similarity). Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 (By similarity).