Aliases for TWIST2 Gene
External Ids for TWIST2 Gene
The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
GeneCards Summary for TWIST2 Gene
TWIST2 (Twist Family BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with TWIST2 include focal facial dermal dysplasia 3, setleis type and focal facial dermal dysplasia. Among its related pathways are Proteoglycans in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is LYL1.
UniProtKB/Swiss-Prot for TWIST2 Gene
Binds to the E-box consensus sequence 5-CANNTG-3 as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors.