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 nonattach... See more...

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
  • Protein Atonal Homolog 7 3 4
  • BHLHa13 3 4
  • Atonal Homolog 7 (Drosophila) 2
  • 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 Summary 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 , Rfam classification 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 1.5 Ensembl ENCODE CraniofacialAtlas 750.6 +0.7 712 1.6 CTCF POLR2A L3MBTL2 ZNF121 SP7 ZNF687 PRDM1 GLIS2 ZIC2 ZBTB8A ATOH7 PBLD RF00004-016
GH10J068090 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.8 +135.7 135713 11.2 POLR2A ZNF362 SREBF1 NCOA3 MAFK SP7 PRDM1 FOSL2 CREB1 RFX1 HERC4 ATOH7 SIRT1 LINC02640 HNRNPH3 PBLD MYPN RF00017-681
GH10J068085 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 15.7 +144.6 144560 4.7 GATA3 FOXA1 POLR2A TCF7L2 ZNF217 ZBTB33 SP1 NCOA3 CREB1 RNF2 MYPN ATOH7 SIRT1 LINC02640 RF00017-681
GH10J068150 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +77.5 77477 7.5 SIN3A CTCF FOXA1 SMARCE1 POLR2A CTBP1 USF2 CREB1 MIXL1 ZNF362 MYPN SIRT1 HERC4 ATOH7 LINC02640 HNRNPH3 RN7SKP202 DNA2 PBLD lnc-HNRNPH3-4
GH10J068303 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 12 -73.6 -73586 3.6 FOXA1 NR2F6 MIXL1 ZNF133 RAD21 ZNF121 SP1 RXRA FOXA2 SOX13 PBLD HNRNPH3 LINC02640 CCAR1 SIRT1 ATOH7 RPS3AP38 TET1 DNA2 RUFY2
- 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:
  • HOXA5
  • ITF-2
  • NF-E2
  • NF-E2 p45
  • RP58
  • SRY
  • Tal-1beta
  • 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

GenScript: Design optimal peptide antigens:
  • Helix-loop-helix protein hATH-5 (ATOH7_HUMAN)
  • Protein atonal homolog 7 (F1T0H4_HUMAN)
genes like me logo Genes that share domains with ATOH7: view

No data available for Graphical View of Domain Structure and 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 DNA-binding transcription factor activity, RNA polymerase II-specific 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

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

CRISPR Products

Clone 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
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 4
extracellular 2
cytoskeleton 1
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

PathCards logo

SuperPathways for ATOH7 Gene

SuperPathway Contained pathways
1 Circadian rythm related genes
genes like me logo Genes that share pathways with ATOH7: view

Pathways by source for ATOH7 Gene

1 BioSystems pathway for ATOH7 Gene

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II 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 :
(6) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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 33 32
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATOH7 33 32
  • 91.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATOH7 33 32
  • 90.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atoh7 17 33 32
  • 84.13 (n)
rat
(Rattus norvegicus)
Mammalia Atoh7 32
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia ATOH7 33
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATOH7 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATOH7 33 32
  • 62.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATOH7 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493495 32
  • 59.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia atoh5b-A 32
zebrafish
(Danio rerio)
Actinopterygii atoh7 33 32 32
  • 68.58 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cato 33
  • 25 (a)
OneToMany
amos 33
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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

(9) MalaCards diseases for ATOH7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
persistent hyperplastic primary vitreous, autosomal recessive
  • phpvar
persistent hyperplastic primary vitreous
  • congenital retinal detachment
anterior segment dysgenesis 7
  • asgd7
cataract-glaucoma
  • cataract-glaucoma syndrome
retinal detachment
  • retinal detachments
- 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 23 56
  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 43 56
  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 56
  4. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. (PMID: 22645276) Prasov L … Glaser T (Human molecular genetics 2012) 3 4 56
  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 43 56

Products for ATOH7 Gene

Sources for ATOH7 Gene