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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. 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.

No data available for 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
GH10F068085 0.8 Ensembl ENCODE 15.7 +144.6 144560 4.7 GTF2F1 TBP TAF1 JUN ZIC2 ZNF316 ZFHX2 GATA3 CTBP1 POLR2A ATOH7 SIRT1 ENSG00000233590 PIR62804 MYPN
GH10F068099 0.5 ENCODE 15.1 +132.0 132019 1.7 PRDM10 ATOH7 HERC4 ENSG00000233590 MYPN PIR62804
GH10F068261 0.4 ENCODE 12.2 -29.4 -29364 0.8 KLF1 NFIA ZBTB8A FEZF1 THRB ZIC2 ZFHX2 GLIS1 SMAD4 ZNF423 PBLD ATOH7 ENSG00000233590 HNRNPH3 KRT19P4
GH10F068202 1.3 Ensembl ENCODE 12 +29.1 29113 0.8 ZNF121 ENSG00000233590 ATOH7 HNRNPH3 PBLD MYPN GC10M068220 RN7SKP202
GH10F068208 0.2 ENCODE 12 +23.4 23446 0.8 ELF3 CTCF PKNOX1 SAP130 MAX ARID4B ZNF2 RAD21 TEAD3 PATZ1 ATOH7 ENSG00000233590 HNRNPH3 PBLD GC10M068220 RN7SKP202
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000356314 613 1401 SIN3A ZNF48 ZNF2 ZNF121 GLIS2 REST SMARCB1 ZNF592 SMARCA4 ZSCAN16

Genomic Location for ATOH7 Gene

Chromosome:
10
Start:
68,230,595 bp from pter
End:
68,232,113 bp from pter
Size:
1,519 bases
Orientation:
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:
    Q8N100-ATOH7_HUMAN
    Recommended name:
    Protein atonal homolog 7
    Protein Accession:
    Q8N100

    Protein attributes for ATOH7 Gene

    Size:
    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

Protein Domains for ATOH7 Gene

Suggested Antigen Peptide Sequences for ATOH7 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N100

UniProtKB/Swiss-Prot:

ATOH7_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with ATOH7: view

Function for ATOH7 Gene

Molecular function for ATOH7 Gene

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

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

Human Phenotype Ontology for ATOH7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATOH7 Gene

MGI Knock Outs for ATOH7:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for ATOH7 Gene COMPARTMENTS Subcellular localization image for ATOH7 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 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

Pathways & Interactions for ATOH7 Gene

SuperPathways for ATOH7 Gene

No Data Available

Interacting Proteins 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 Pathways by source and SIGNOR curated interactions for ATOH7 Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ATOH7 Gene

GeneLoc Exon Structure for
ATOH7
ECgene alternative splicing isoforms for
ATOH7

Expression for ATOH7 Gene

mRNA expression in normal human tissues 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:

ATOH7

SOURCE GeneReport for Unigene cluster for ATOH7 Gene:

Hs.737072
genes like me logo Genes that share expression patterns with ATOH7: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ATOH7 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia ATOH7 34 35
  • 91.67 (n)
cow
(Bos Taurus)
Mammalia ATOH7 34 35
  • 90.57 (n)
mouse
(Mus musculus)
Mammalia Atoh7 34 16 35
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia Atoh7 34
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ATOH7 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATOH7 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATOH7 34 35
  • 62.25 (n)
lizard
(Anolis carolinensis)
Reptilia ATOH7 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493495 34
  • 59.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia atoh5b-A 34
zebrafish
(Danio rerio)
Actinopterygii atoh7 34 35
  • 68.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta cato 35
  • 25 (a)
OneToMany
amos 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToOne
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

ENSEMBL:
Gene Tree for ATOH7 (if available)
TreeFam:
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 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900], Pathogenic 68,231,532(+) GGCGC(A/T)CGCGC reference, missense
rs587777666 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900], Pathogenic 68,231,542(+) CGCGT(G/T)GGCCG reference, missense
rs587777665 Pathogenic 68,231,625(+) CGCAC(-/G)GGGGT reference, frameshift-variant
rs111699024 -- 68,231,485(+) CACCC(C/G/T)GCGTA reference, synonymous-codon, missense
rs114692316 -- 68,230,192(+) TTCTG(G/T)GTTAG downstream-variant-500B

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

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

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)
ATOH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATOH7

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

Disorders for ATOH7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
persistent hyperplastic primary vitreous, autosomal recessive
  • retinal nonattachment, nonsyndromic congenital
persistent hyperplastic primary vitreous
  • phpv
corneal opacification and other ocular anomalies
  • corneal opacification with other ocular anomalies
cataract-glaucoma
  • cataract-glaucoma syndrome
optic nerve hypoplasia
  • optic nerve hypoplasia, bilateral optic nerve aplasia, bilateral, included
- elite association - COSMIC cancer census association via MalaCards
Search ATOH7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATOH7_HUMAN
  • 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)
ATOH7
Human Genome Epidemiology (HuGE) Navigator
ATOH7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATOH7
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 N.L. … Glaser T. (Mamm. Genome 2002) 2 3 4 22 64
  2. Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. (PMID: 20395239) Macgregor S. … Mackey D.A. (Hum. Mol. Genet. 2010) 3 4 46 64
  3. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. (PMID: 22645276) Prasov L. … Glaser T. (Hum. Mol. Genet. 2012) 3 4 64
  4. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. (PMID: 22068589) Khan K. … Ali M. (Hum. Mol. Genet. 2012) 3 4 64
  5. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. (PMID: 21441919) Ghiasvand N.M. … Glaser T. (Nat. Neurosci. 2011) 3 4 64

Products for ATOH7 Gene

Sources for ATOH7 Gene

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