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

    Gene ID: 220202, updated on 7-Jul-2015
    Official Symbol
    ATOH7provided by HGNC
    Official Full Name
    atonal bHLH transcription factor 7provided by HGNC
    Primary source
    HGNC:HGNC:13907
    See related
    Ensembl:ENSG00000179774; HPRD:09812; MIM:609875; Vega:OTTHUMG00000018346
    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
    See ATOH7 in Epigenomics, MapViewer
    Location:
    10q21.3; 10q21.3-q22.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105378341 Neighboring gene keratin 19 pseudogene 4 Neighboring gene phenazine biosynthesis-like protein domain containing Neighboring gene heterogeneous nuclear ribonucleoprotein H3 (2H9)

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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, DNA-templated 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
    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

    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_145178.3NP_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/TrEMBL
      F1T0H4
      UniProtKB/Swiss-Prot
      Q8N100
      Related
      ENSP00000362777, OTTHUMP00000019697, ENST00000373673, OTTHUMT00000048312
      Conserved Domains (1) summary
      cd00083
      Location:5097
      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

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      70272108..70273626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)