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Aliases for ATOH7 Gene

Aliases for ATOH7 Gene

  • Atonal BHLH Transcription Factor 7 2 3 5
  • Atonal Homolog BHLH Transcription Factor 7 2 3
  • Class A Basic Helix-Loop-Helix Protein 13 3 4
  • Helix-Loop-Helix Protein HATH-5 3 4
  • BHLHa13 3 4
  • Atonal Homolog 7 (Drosophila) 2
  • Protein Atonal Homolog 7 3
  • Atonal Homolog 7 3
  • PHPVAR 3
  • Math5 3
  • NCRNA 3
  • RNANC 3
  • HATH5 4
  • ATH5 4

External Ids for ATOH7 Gene

Previous GeneCards Identifiers for ATOH7 Gene

  • GC10M068802
  • GC10M069077
  • GC10M069882
  • GC10M069335
  • GC10M069334
  • GC10M069660
  • GC10M069990
  • GC10M063990

Summaries for ATOH7 Gene

Entrez Gene Summary for ATOH7 Gene

  • 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]

GeneCards Summary for ATOH7 Gene

ATOH7 (Atonal BHLH Transcription Factor 7) is a Protein Coding gene. Diseases associated with ATOH7 include Persistent Hyperplastic Primary Vitreous, Autosomal Recessive and Persistent Hyperplastic Primary Vitreous. Among its related pathways are Circadian rythm related genes. GO annotations related to this gene include protein dimerization activity. An important paralog of this gene is ATOH1.

UniProtKB/Swiss-Prot for ATOH7 Gene

  • Transcription factor involved in the differentiation of retinal ganglion cells.

Additional gene information for ATOH7 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATOH7 Gene

Genomics for ATOH7 Gene

Regulatory Elements for ATOH7 Gene

Enhancers for ATOH7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H068085 1.3 Ensembl ENCODE dbSUPER 15.7 +144.6 144560 4.7 GTF2F1 TBP FOXA2 JUN CEBPG ZFHX2 CTBP1 GATA3 POLR2A SCRT2 ATOH7 SIRT1 ENSG00000233590 PIR62804 MYPN
GH10H068150 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +77.5 77478 7.5 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS SP3 REST MYPN SIRT1 HERC4 ATOH7 ENSG00000233590 RN7SKP202 DNA2 PBLD HNRNPH3
GH10H068091 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +138.0 137995 4.6 TBP NFIB JUN MAX RFX5 ZKSCAN1 GTF3C2 E2F1 CTBP1 ZNF316 CCAR1 DDX50 SIRT1 HNRNPH3 HERC4 ATOH7 ENSG00000233590 PBLD RPL12P8 DDX21
GH10H068096 1.4 Ensembl ENCODE dbSUPER 10.8 +134.4 134371 2.3 TBP INSM2 RFX5 ZNF138 ZNF366 RCOR1 FOS SMARCC1 CEBPB ZEB2 HERC4 ATOH7 ENSG00000233590 HNRNPH3 PBLD MYPN SIRT1 PIR62804
GH10H068208 0.8 ENCODE 12.1 +23.4 23446 0.8 ELF3 CTCF MAX ZNF2 RAD21 RFX5 TEAD3 PATZ1 SMC3 ZNF143 ATOH7 ENSG00000233590 PBLD HNRNPH3 GC10M068220 RN7SKP202
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATOH7 on UCSC Golden Path with GeneCards custom track

Promoters for ATOH7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for ATOH7 Gene

Genomic Locations for ATOH7 Gene
1,519 bases
Minus strand

Genomic View for ATOH7 Gene

Genes around ATOH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATOH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATOH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATOH7 Gene

Proteins for ATOH7 Gene

  • Protein details for ATOH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein atonal homolog 7
    Protein Accession:

    Protein attributes for ATOH7 Gene

    152 amino acids
    Molecular mass:
    16871 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATOH7 Gene

Post-translational modifications for ATOH7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOH7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATOH7 Gene

Domains & Families for ATOH7 Gene

Gene Families for ATOH7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ATOH7 Gene

Suggested Antigen Peptide Sequences for ATOH7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATOH7: view

No data available for UniProtKB/Swiss-Prot for ATOH7 Gene

Function for ATOH7 Gene

Molecular function for ATOH7 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in the differentiation of retinal ganglion cells.

Phenotypes From GWAS Catalog for ATOH7 Gene

Gene Ontology (GO) - Molecular Function for ATOH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ATOH7: view
genes like me logo Genes that share phenotypes with ATOH7: view

Animal Models for ATOH7 Gene

MGI Knock Outs for ATOH7:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ATOH7 Gene

Localization for ATOH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATOH7 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATOH7 gene
Compartment Confidence
nucleus 5
extracellular 3
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ATOH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ATOH7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATOH7 Gene

Pathways & Interactions for ATOH7 Gene

genes like me logo Genes that share pathways with ATOH7: view

Pathways by source for ATOH7 Gene

1 BioSystems pathway for ATOH7 Gene

Gene Ontology (GO) - Biological Process for ATOH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003407 neural retina development IMP 21441919
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with ATOH7: view

No data available for SIGNOR curated interactions for ATOH7 Gene

Drugs & Compounds for ATOH7 Gene

No Compound Related Data Available

Transcripts for ATOH7 Gene

mRNA/cDNA for ATOH7 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATOH7 Gene

Atonal homolog 7 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATOH7 Gene

No ASD Table

Relevant External Links for ATOH7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATOH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATOH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATOH7 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Amygdala (x5.5), Brain - Frontal Cortex (BA9) (x4.4), and Brain - Cortex (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATOH7 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATOH7 Gene:


SOURCE GeneReport for Unigene cluster for ATOH7 Gene:


Evidence on tissue expression from TISSUES for ATOH7 Gene

  • Eye(4.5)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATOH7 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • outer ear
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ATOH7: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ATOH7 Gene

Orthologs for ATOH7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATOH7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ATOH7 33 34
  • 99.34 (n)
(Canis familiaris)
Mammalia ATOH7 33 34
  • 91.67 (n)
(Bos Taurus)
Mammalia ATOH7 33 34
  • 90.57 (n)
(Mus musculus)
Mammalia Atoh7 33 16 34
  • 84.13 (n)
(Rattus norvegicus)
Mammalia Atoh7 33
  • 82.31 (n)
(Monodelphis domestica)
Mammalia ATOH7 34
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia ATOH7 34
  • 70 (a)
(Gallus gallus)
Aves ATOH7 33 34
  • 62.25 (n)
(Anolis carolinensis)
Reptilia ATOH7 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493495 33
  • 59.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia atoh5b-A 33
(Danio rerio)
Actinopterygii atoh7 33 34
  • 68.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta cato 34
  • 25 (a)
amos 34
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
Species where no ortholog for ATOH7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATOH7 Gene

Gene Tree for ATOH7 (if available)
Gene Tree for ATOH7 (if available)

Paralogs for ATOH7 Gene

(6) SIMAP similar genes for ATOH7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ATOH7: view

Variants for ATOH7 Gene

Sequence variations from dbSNP and Humsavar for ATOH7 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs587777664 Pathogenic, Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] 68,231,532(+) GGCGC(A/T)CGCGC reference, missense
rs587777666 Pathogenic, Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] 68,231,542(+) CGCGT(G/T)GGCCG reference, missense
rs587777665 Pathogenic 68,231,625(+) CGCAC(-/G)GGGGT reference, frameshift-variant
rs1000387123 -- 68,230,462(+) TTGAG(C/G)AACTA downstream-variant-500B
rs1000672960 -- 68,231,665(+) GGGCT(C/T)GCAGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ATOH7 Gene

Variant ID Type Subtype PubMed ID
nsv526735 CNV loss 19592680
esv3623707 CNV gain 21293372
esv3623705 CNV gain 21293372

Variation tolerance for ATOH7 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATOH7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATOH7 Gene

Disorders for ATOH7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ATOH7 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
persistent hyperplastic primary vitreous, autosomal recessive
  • congenital non-syndromic retinal non-attachment
persistent hyperplastic primary vitreous
  • phpv
anterior segment dysgenesis 7, with sclerocornea
  • corneal opacification and other ocular anomalies
  • cataract-glaucoma syndrome
retinal detachment
- elite association - COSMIC cancer census association via MalaCards
Search ATOH7 in MalaCards View complete list of genes associated with diseases


  • Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]: A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. {ECO:0000269 PubMed:21441919, ECO:0000269 PubMed:22068589, ECO:0000269 PubMed:22645276}. Note=The disease is caused by mutations affecting the gene represented in this entry. A 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 has been found in PHPVAR patients (PubMed:21441919). {ECO:0000269 PubMed:21441919}.

Relevant External Links for ATOH7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ATOH7: view

No data available for Genatlas for ATOH7 Gene

Publications for ATOH7 Gene

  1. Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. (PMID: 11889557) Brown NL … Glaser T (Mammalian genome : official journal of the International Mammalian Genome Society 2002) 2 3 4 22 60
  2. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (PMID: 20395239) Macgregor S … Mackey DA (Human molecular genetics 2010) 3 4 45 60
  3. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. (PMID: 22068589) Khan K … Ali M (Human molecular genetics 2012) 3 4 60
  4. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. (PMID: 22645276) Prasov L … Glaser T (Human molecular genetics 2012) 3 4 60
  5. 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. (PMID: 21307088) Khor CC … Aung T (Human molecular genetics 2011) 3 45 60

Products for ATOH7 Gene

Sources for ATOH7 Gene

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