Homo sapiens Protein: BHLHE22
Summary
InnateDB Protein IDBP-23427.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BHLHE22
Protein Name basic helix-loop-helix family, member e22
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000318799
InnateDB Gene IDBG-23425 (BHLHE22)
Protein Structure
UniProt Annotation
Function 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). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations
Tissue Specificity Brain-specific, with the highest expression in the cerebellum. {ECO:0000269PubMed:12213201}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
PFAM PF00010
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8NFJ8
PhosphoSite PhosphoSite-Q8NFJ8
TrEMBL
UniProt Splice Variant
Entrez Gene 27319
UniGene Hs.743680
RefSeq NP_689627
HUGO HGNC:11963
OMIM 613483
CCDS CCDS6179
HPRD 16551
IMGT
EMBL AF504925 BK000273
GenPept AAM28881 DAA01053