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BHLHE22 basic helix-loop-helix family member e22 [ Homo sapiens (human) ]

Gene ID: 27319, updated on 7-May-2016
Official Symbol
BHLHE22provided by HGNC
Official Full Name
basic helix-loop-helix family member e22provided by HGNC
Primary source
HGNC:HGNC:11963
See related
Ensembl:ENSG00000180828 HPRD:16551; MIM:613483; Vega:OTTHUMG00000164386
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Beta3; BHLHB5; CAGL85; TNRC20
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]
Orthologs
Location:
8q13
Exon count:
1
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (64580238..64583634)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (65492795..65496191)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929675 Neighboring gene uncharacterized LOC401463 Neighboring gene cytochrome P450 family 7 subfamily B member 1 Neighboring gene uncharacterized LOC105375879 Neighboring gene uncharacterized LOC105375878

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
neurogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
class E basic helix-loop-helix protein 22
Names
basic helix-loop-helix domain containing, class B, 5
basic helix-loop-helix family, member e22
class B basic helix-loop-helix protein 5
trinucleotide repeat containing 20
trinucleotide repeat-containing gene 20 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_152414.4NP_689627.1  class E basic helix-loop-helix protein 22

    See identical proteins and their annotated locations for NP_689627.1

    Status: VALIDATED

    Source sequence(s)
    AA927689, AC090136, AI867692, AK091333, AK293979, AW206610, BK000273
    Consensus CDS
    CCDS6179.1
    UniProtKB/Swiss-Prot
    Q8NFJ8
    UniProtKB/TrEMBL
    B4DF88
    Related
    ENSP00000318799, OTTHUMP00000226588, ENST00000321870, OTTHUMT00000378549
    Conserved Domains (1) summary
    cd00083
    Location:244301
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    64580238..64583634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    65546484..65549880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)