Homo sapiens Gene: BHLHE22
Summary
InnateDB Gene IDBG-23425.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BHLHE22
Gene Name basic helix-loop-helix family, member e22
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000180828
Encoded Proteins
basic helix-loop-helix family, member e22
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:64580367-64583628
Strand Forward strand
Band q12.3
Transcripts
ENST00000321870 ENSP00000318799
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0046983 protein dimerization activity
Biological Process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0021540 corpus callosum morphogenesis
GO:0021796 cerebral cortex regionalization
GO:0021952 central nervous system projection neuron axonogenesis
GO:0021957 corticospinal tract morphogenesis
GO:0021960 anterior commissure morphogenesis
GO:0030182 neuron differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0060040 retinal bipolar neuron differentiation
GO:0060042 retina morphogenesis in camera-type eye
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q8NFJ8
TrEMBL
UniProt Splice Variant
Entrez Gene 27319
UniGene Hs.388788 Hs.591870 Hs.743680
RefSeq NM_152414
HUGO HGNC:11963
OMIM 613483
CCDS CCDS6179
HPRD
IMGT
EMBL AF504925 BK000273
GenPept AAM28881 DAA01053
RNA Seq Atlas 27319