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FLASH GENE
Symbol BHLHE22 contributors: mct - updated : 30-10-2020
HGNC name basic helix-loop-helix family, member e22
HGNC id 11963
Location 8q12.3      Physical location : 65.492.813 - 65.496.185
Synonym name
  • basic helix-loop-helix domain containing, class B5
  • trinucleotide repeat containing 20
  • class B basic helix-loop-helix protein 52
  • Synonym symbol(s) Beta3, CAGL85, TNRC20, BHLHB5
    DNA
    TYPE functioning gene
    STRUCTURE 3.26 kb     1 Exon(s)
    motif repetitive sequence   triplet
    text structure 27 bp AGC trinucleotide repeat sequence encoding 9 serines
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3388 - 381 - 2017 28473536
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellumcerebellar cortexhighly
    Reproductivemale systemprostate  moderately
    Respiratorylung    
    Urinarykidney   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Bhlhb5
    homolog to zebrafish zgc64225
    intraspecies homolog to NEUROD2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in regulation of spinal interneuron development
  • KLF9, BHLHE22, Hairless (Hr), are regulated specifically
  • by T3 in purified oligodendrocyte precursor cells (OPCs)and involved in oligodendrocyte differentiation and myelin regeneration
  • broad expression pattern of BHLHE22 throughout retinogenesis suggesting cell-autonomous as well as non-cell-autonomous role of BHLHE22 in the specification of amacrine and bipolar subtypes
  • role for BHLHE22 in the development of neurons that mediate sensory integration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PRDM88 is an obligate partner of BHLHE22, forming a repressor complex that directs neural circuit assembly in part through the precise regulation of CDH11
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for DURS1
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Bhlhb5 showed a dramatically diminished number of neurons, including unipolar brush and cartwheel cell