Aliases for TLX2 Gene
External Ids for TLX2 Gene
Previous HGNC Symbols for TLX2 Gene
Previous GeneCards Identifiers for TLX2 Gene
This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]
GeneCards Summary for TLX2 Gene
TLX2 (T-Cell Leukemia Homeobox 2) is a Protein Coding gene. Diseases associated with TLX2 include T-Cell Leukemia and Central Hypoventilation Syndrome, Congenital. Among its related pathways are ALK2 signaling events and Neural Crest Differentiation. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is TLX1.
UniProtKB/Swiss-Prot for TLX2 Gene
Transcription activator that binds DNA elements with the consensus sequence 5-CGGTAATTGG-3. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity).