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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
  • BHLHA13 4
  • 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for ATOH7 Gene

Promoters and enhancers for ATOH7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J068230 Promoter/Enhancer 1.4 Ensembl ENCODE 650.7 +0.7 686 1.4 ARNT SIN3A ZNF2 ZNF48 YY1 ZNF121 GLIS2 ATF7 REST SMARCB1 ATOH7 PBLD GC10M068220
GH10J068085 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 15.7 +144.6 144560 4.7 FOXA2 SCRT2 IKZF2 EGR2 RXRA CEBPB REST SP1 ZNF217 MAFF MYPN ATOH7 SIRT1 ENSG00000233590 PIR62804
GH10J068150 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +77.5 77477 7.5 PKNOX1 FOXA2 NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF213 ZNF143 FOS MYPN SIRT1 HERC4 ATOH7 ENSG00000233590 RN7SKP202 DNA2 PBLD HNRNPH3
GH10J068091 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +138.0 137995 4.6 NFIB NEUROD1 RFX5 GTF3C2 FOS RCOR1 ZNF202 ZNF362 CEBPB ZNF592 CCAR1 DDX50 SIRT1 HNRNPH3 HERC4 ATOH7 ENSG00000233590 PBLD RPL12P8 DDX21
GH10J068303 Promoter/Enhancer 1.2 EPDnew ENCODE 12 -73.6 -73586 3.6 SOX13 ESRRA FOXA2 TAF1 ZNF133 MAX RAD21 RARA YY1 ZNF121 PBLD ENSG00000233590 SIRT1 ATOH7 HNRNPH3 CCAR1 DNA2 RUFY2 KRT19P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATOH7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATOH7 gene promoter:
  • ITF-2
  • Tal-1beta
  • NF-E2 p45
  • NF-E2
  • SRY
  • RP58
  • HOXA5
  • USF1

Genomic Locations for ATOH7 Gene

Genomic Locations for ATOH7 Gene
chr10:68,230,595-68,232,113
(GRCh38/hg38)
Size:
1,519 bases
Orientation:
Minus strand
chr10:69,990,381-69,991,871
(GRCh37/hg19)
Size:
1,491 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

HGNC:
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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
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:

Animal Model Products

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

COMPARTMENTS
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:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism 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
ATOH7
ECgene alternative splicing isoforms for
ATOH7

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 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

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
Systems:
  • cardiovascular
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • outer ear
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia ATOH7 34 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATOH7 34 33
  • 91.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATOH7 34 33
  • 90.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atoh7 16 34 33
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia Atoh7 33
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ATOH7 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATOH7 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATOH7 34 33
  • 62.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATOH7 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493495 33
  • 59.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia atoh5b-A 33
zebrafish
(Danio rerio)
Actinopterygii atoh7 34 33 33
  • 68.58 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cato 34
  • 25 (a)
OneToMany
amos 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATOH7: view image

Paralogs for ATOH7 Gene

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

  • ATOH7_HUMAN
  • F1T0H4_HUMAN
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 Variation AA Info Type
rs587777664 pathogenic, Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] 68,231,532(-) T/A coding_sequence_variant, missense_variant
rs587777665 pathogenic, Persistent hyperplastic primary vitreous, autosomal recessive 68,231,625(-) GGGGG/GGGG coding_sequence_variant, frameshift
rs587777666 pathogenic, Persistent hyperplastic primary vitreous, autosomal recessive, Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] 68,231,542(-) T/G coding_sequence_variant, missense_variant
rs1000387123 -- 68,230,462(-) G/C downstream_transcript_variant
rs1000672960 -- 68,231,665(-) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information for ATOH7 Gene

Human Gene Mutation Database (HGMD)
ATOH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATOH7

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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}.

Additional Disease Information for ATOH7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  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 44 58
  3. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. (PMID: 22645276) Prasov L … Glaser T (Human molecular genetics 2012) 3 4 58
  4. 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 58
  5. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. (PMID: 21441919) Ghiasvand NM … Glaser T (Nature neuroscience 2011) 3 4 58

Products for ATOH7 Gene

Sources for ATOH7 Gene

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