Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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 NEUROG1.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ATOH7 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ATOH7 Gene at MOPED

Post-translational modifications for ATOH7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOH7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for ATOH7 Gene

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:0006351 transcription, DNA-templated IEA --
GO:0007623 circadian rhythm IEA --
GO:0021554 optic nerve development IMP 21441919
GO:0030154 cell differentiation 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

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:

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



SOURCE GeneReport for Unigene cluster for ATOH7 Gene Hs.737072

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

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ATOH7 35
  • 90.57 (n)
  • 91.45 (a)
ATOH7 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATOH7 35
  • 91.67 (n)
  • 90.79 (a)
ATOH7 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atoh7 35
  • 84.13 (n)
  • 85.71 (a)
Atoh7 16
Atoh7 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATOH7 35
  • 99.34 (n)
  • 100 (a)
ATOH7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atoh7 35
  • 82.31 (n)
  • 82.99 (a)
oppossum
(Monodelphis domestica)
Mammalia ATOH7 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATOH7 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATOH7 35
  • 62.25 (n)
  • 63.58 (a)
ATOH7 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATOH7 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493495 35
  • 59.72 (n)
  • 58.33 (a)
African clawed frog
(Xenopus laevis)
Amphibia atoh5b-A 35
zebrafish
(Danio rerio)
Actinopterygii atoh7 35
  • 68.58 (n)
  • 73.56 (a)
atoh7 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta amos 36
  • 24 (a)
OneToMany
cato 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToOne
Species with no ortholog for ATOH7:
  • 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
VAR_072398 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)
VAR_072399 -
VAR_072400 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)
VAR_072401 -
rs2289804 -- 68,233,275(-) TGACA(C/T)TTTAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
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

HapMap Linkage Disequilibrium report
ATOH7
Human Gene Mutation Database (HGMD)
ATOH7

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

Disorders for ATOH7 Gene

MalaCards: The human disease database

(9) 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
congenital cataract microcornea with corneal opacity
  • ccmco
microphthalmia cataract
  • cataract, congenital, with microphthalmia
cataract-glaucoma
  • cataract-glaucoma syndrome
- 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 23 67
  2. Genetic Association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the Endophenotypes of Primary Open Angle Glaucoma in Indian Population. (PMID: 25798827) Philomenadin F.S. … Sarangapani S. (PLoS ONE 2015) 3
  3. Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts. (PMID: 25489222) Micheal S. … den Hollander A.I. (Mol. Vis. 2014) 3
  4. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. (PMID: 25241763) Springelkamp H. … Hammond C.J. (Nat Commun 2014) 3
  5. Clarifying the role of ATOH7 in glaucoma endophenotypes. (PMID: 24457358) Venturini C. … Viswanathan A.C. (Br J Ophthalmol 2014) 3

Products for ATOH7 Gene

Sources for ATOH7 Gene

Content