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

    Gene ID: 220202, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:13907
    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
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    Genomic context

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    See ATOH7 in Genome Data Viewer
    Location:
    10q21.3; 10q21.3-q22.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (68230595..68232113, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69099395..69100913, complement)
    RS_2024_09 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 myopalladin Neighboring gene uncharacterized LOC107984240 Neighboring gene RN7SK pseudogene 202 Neighboring gene Sharpr-MPRA regulatory region 5989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16136 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16144 Neighboring gene uncharacterized LOC124902443 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16197 Neighboring gene uncharacterized LOC124902593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2418 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16219 Neighboring gene long intergenic non-protein coding RNA 2640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70010536-70011036 Neighboring gene keratin 19 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. Naruse S, et al. Retin Cases Brief Rep, 2023 Nov 1. PMID 35389970
    2. Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment. Ghiasvand NM, et al. Am J Med Genet, 2000 May 29. PMID 10817658
    3. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Khan K, et al. Hum Mol Genet, 2012 Feb 15. PMID 22068589, Free PMC Article
    4. Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia. Lim SH, et al. Ophthalmic Genet, 2014 Mar. PMID 23802135, Free PMC Article
    5. Clarifying the role of ATOH7 in glaucoma endophenotypes. Venturini C, et al. Br J Ophthalmol, 2014 Apr. PMID 24457358

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
      Title: OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
    2. Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
      Title: Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
    3. Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.
      Title: Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.
    4. Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
      Title: Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
    5. These results demonstrate the high potency of human ATOH7 in promoting early retinogenesis and specifying the retinal ganglion cells differentiation program, thus providing insight for manipulating retinal ganglion cells production from stem cell-derived retinal organoids.
      Title: Elevated expression of human bHLH factor ATOH7 accelerates cell cycle progression of progenitors and enhances production of avian retinal ganglion cells.
    6. Our present results showed that the T allele of ATOH7 conferred an independent risk of non-arteritic ischemic optic neuropathy.
      Title: The polymorphisms of ATOH 7, ET-1 and ACE in non-arteritic anterior ischemic optic neuropathy.
    7. In conclusion, we have identified a homozygous mutation in the ATOH7 gene in a patient with nonsyndromic congenital retinal nonattachment.
      Title: Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy.
    8. We evaluated 21 consanguineous NCRNA pedigrees and identified the causal mutations in known retinal genes in 13 out of our 21 families. We found mutations in ATOH7 in three families.
      Title: The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.
    9. We discovered a novel SNP, rs56238729 (P = 1.22 x 10-13), in the ATOH7-PBLD region that is significantly associated with VCDR in Latino individuals.
      Title: A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.
    10. The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with primary open angle glaucomacompared to controls.
      Title: Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

    Description
    A genome-wide association study of optic disc parameters.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS 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.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables E-box binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in entrainment of circadian clock by photoperiod ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within neural retina development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron fate commitment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within optic nerve development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of retinal ganglion cell axon guidance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to auditory stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor ATOH7
    Names
    atonal homolog 7
    atonal homolog bHLH transcription factor 7
    class A basic helix-loop-helix protein 13
    helix-loop-helix protein hATH-5
    protein atonal homolog 7

    NCBI Reference Sequences (RefSeq)

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    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_145178.4 → NP_660161.1  transcription factor ATOH7

      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
      cd19714
      Location:34 → 102
      bHLH_TS_ATOH7; basic helix-loop-helix (bHLH) domain found in protein atonal homolog 7 (ATOH7) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69099395..69100913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N100.1 GenPept UniProtKB/Swiss-Prot:Q8N100

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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