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

Gene ID: 27319, updated on 13-Mar-2020

Summary

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 MIM:613483
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Beta3; BHLHB5; Beta3a; CAGL85; TNRC20
Summary
This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
Orthologs

Genomic context

See BHLHE22 in Genome Data Viewer
Location:
8q12.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (64580365..64583627)
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 MIR124-2 host gene Neighboring gene microRNA 124-2 Neighboring gene cytochrome c oxidase subunit NDUFA4 pseudogene Neighboring gene uncharacterized LOC401463 Neighboring gene cytochrome P450 family 7 subfamily B member 1 Neighboring gene uncharacterized LOC105375879 Neighboring gene uncharacterized LOC105375878

Genomic regions, transcripts, and products

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
neurogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
class E basic helix-loop-helix protein 22
Names
basic helix-loop-helix domain containing, class B, 5
class B basic helix-loop-helix protein 5
trinucleotide repeat containing 20

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_051813.1 RefSeqGene

    Range
    5128..8390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152414.5NP_689627.1  class E basic helix-loop-helix protein 22

    See identical proteins and their annotated locations for NP_689627.1

    Status: REVIEWED

    Source sequence(s)
    AA927689, AC090136, AK091333, AK293979, BK000273
    Consensus CDS
    CCDS6179.1
    UniProtKB/Swiss-Prot
    Q8NFJ8
    UniProtKB/TrEMBL
    B4DF88
    Related
    ENSP00000318799.1, ENST00000321870.3
    Conserved Domains (1) summary
    smart00353
    Location:248302
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    64580365..64583627
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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