Aliases for BHLHE22 Gene
External Ids for BHLHE22 Gene
Previous HGNC Symbols for BHLHE22 Gene
Previous GeneCards Identifiers for BHLHE22 Gene
BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 [PubMed 12213201]).[supplied by OMIM, Jul 2010]
GeneCards Summary for BHLHE22 Gene
BHLHE22 (Basic Helix-Loop-Helix Family Member E22) is a Protein Coding gene. Diseases associated with BHLHE22 include Echolalia. GO annotations related to this gene include protein homodimerization activity and protein dimerization activity. An important paralog of this gene is BHLHE23.
UniProtKB/Swiss-Prot for BHLHE22 Gene
Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.