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ATOH7 atonal bHLH transcription factor 7 [ Homo sapiens (human) ]

Gene ID: 220202, updated on 1-Aug-2020

Summary

Official Symbol
ATOH7provided by HGNC
Official Full Name
atonal bHLH transcription factor 7provided by HGNC
Primary source
HGNC:HGNC:13907
See related
Ensembl:ENSG00000179774 MIM:609875
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
Math5; NCRNA; RNANC; PHPVAR; bHLHa13
Summary
This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
Orthologs

Genomic context

See ATOH7 in Genome Data Viewer
Location:
10q21.3; 10q21.3-q22.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (68230595..68232113, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (69990352..69991870, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 4 Neighboring gene POU class 5 homeobox 1 pseudogene 5 Neighboring gene myopalladin Neighboring gene uncharacterized LOC107984240 Neighboring gene RN7SK pseudogene 202 Neighboring gene long intergenic non-protein coding RNA 2640 Neighboring gene keratin 19 pseudogene 4

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Persistent hyperplastic primary vitreous, autosomal recessive
MedGen: C1969783 OMIM: 221900 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of optic disc parameters.
NHGRI GWA Catalog
Genetic variants associated with disordered eating.
NHGRI GWA Catalog
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
NHGRI GWA Catalog
Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
entrainment of circadian clock by photoperiod ISS
Inferred from Sequence or Structural Similarity
more info
 
neural retina development IMP
Inferred from Mutant Phenotype
more info
PubMed 
optic nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
protein atonal homolog 7
Names
atonal homolog 7
atonal homolog bHLH transcription factor 7
class A basic helix-loop-helix protein 13
helix-loop-helix protein hATH-5

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_031934.1 RefSeqGene

    Range
    5001..6519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_145178.4NP_660161.1  protein atonal homolog 7

    See identical proteins and their annotated locations for NP_660161.1

    Status: REVIEWED

    Source sequence(s)
    AB593109, BY797167, H05728
    Consensus CDS
    CCDS7276.1
    UniProtKB/Swiss-Prot
    Q8N100
    UniProtKB/TrEMBL
    F1T0H4
    Related
    ENSP00000362777.3, ENST00000373673.5
    Conserved Domains (1) summary
    smart00353
    Location:5398
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    68230595..68232113 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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