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

Aliases for ATOH8 Gene

Aliases for ATOH8 Gene

  • Atonal BHLH Transcription Factor 8 2 3 5
  • Basic Helix Loop Helix Transcription Factor 6 2 3
  • Atonal Homolog BHLH Transcription Factor 8 2 3
  • Class A Basic Helix-Loop-Helix Protein 21 3 4
  • Helix-Loop-Helix Protein HATH-6 3 4
  • BHLHa21 3 4
  • HATH6 3 4
  • Basic Helix-Loop-Helix Transcription Factor 6 3
  • Atonal Homolog 8 (Drosophila) 2
  • Atonal Homolog 6 3
  • Atonal Homolog 8 3
  • ATH6 4

External Ids for ATOH8 Gene

Previous GeneCards Identifiers for ATOH8 Gene

  • GC00U913743
  • GC02P085956
  • GC02P085892
  • GC02P085978

Summaries for ATOH8 Gene

GeneCards Summary for ATOH8 Gene

ATOH8 (Atonal BHLH Transcription Factor 8) is a Protein Coding gene. GO annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot for ATOH8 Gene

  • Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5-CANNTG- 3 known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATOH8 Gene

Genomics for ATOH8 Gene

Regulatory Elements for ATOH8 Gene

Enhancers for ATOH8 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 ATOH8 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATOH8 Gene

Chromosome:
2
Start:
85,751,344 bp from pter
End:
85,791,383 bp from pter
Size:
40,040 bases
Orientation:
Plus strand

Genomic View for ATOH8 Gene

Genes around ATOH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATOH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATOH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATOH8 Gene

Proteins for ATOH8 Gene

  • Protein details for ATOH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SQ7-ATOH8_HUMAN
    Recommended name:
    Protein atonal homolog 8
    Protein Accession:
    Q96SQ7
    Secondary Accessions:
    • Q504S2
    • Q659B0

    Protein attributes for ATOH8 Gene

    Size:
    321 amino acids
    Molecular mass:
    34644 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Interacts with NEUROG3 AND NEUROD1. Interacts with ZFPM2; mediates indirect interaction with GATA4. Forms a heterodimer with TCF3; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters.

    Alternative splice isoforms for ATOH8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATOH8 Gene

Proteomics data for ATOH8 Gene at MOPED

Post-translational modifications for ATOH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOH8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ATOH8 Gene

Domains & Families for ATOH8 Gene

Gene Families for ATOH8 Gene

Protein Domains for ATOH8 Gene

Suggested Antigen Peptide Sequences for ATOH8 Gene

Graphical View of Domain Structure for InterPro Entry

Q96SQ7

UniProtKB/Swiss-Prot:

ATOH8_HUMAN :
  • The bHLH domain mediates transcriptional repression by inhibiting TCF3 transcriptional activity through heterodimerization.
Domain:
  • The bHLH domain mediates transcriptional repression by inhibiting TCF3 transcriptional activity through heterodimerization.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with ATOH8: view

Function for ATOH8 Gene

Molecular function for ATOH8 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5-CANNTG- 3 known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640). Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812). Modulates endothelial cell differentiation through NOS3 (PubMed:24463812). May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity). May participate in kidney development and may be involved in podocyte differentiation (By similarity). During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity). During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity). Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640). Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity).

Gene Ontology (GO) - Molecular Function for ATOH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033613 activating transcription factor binding IEA --
genes like me logo Genes that share ontologies with ATOH8: view
genes like me logo Genes that share phenotypes with ATOH8: view

Animal Models for ATOH8 Gene

MGI Knock Outs for ATOH8:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATOH8 Gene

Localization for ATOH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATOH8 Gene

Nucleus. Nucleus speckle. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATOH8 Gene COMPARTMENTS Subcellular localization image for ATOH8 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ATOH8 Gene

Pathways & Interactions for ATOH8 Gene

SuperPathways for ATOH8 Gene

No Data Available

Interacting Proteins for ATOH8 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000304676%0d%0a9606.ENSP00000262965%0d%0a9606.ENSP00000222982%0d%0a
Selected Interacting proteins: ENSP00000304676 for ATOH8 Gene via STRING

Gene Ontology (GO) - Biological Process for ATOH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001704 formation of primary germ layer ISS --
GO:0001937 negative regulation of endothelial cell proliferation IMP 24463812
GO:0006351 transcription, DNA-templated IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with ATOH8: view

No data available for Pathways by source and SIGNOR curated interactions for ATOH8 Gene

Drugs & Compounds for ATOH8 Gene

No Compound Related Data Available

Transcripts for ATOH8 Gene

Unigene Clusters for ATOH8 Gene

Atonal homolog 8 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATOH8 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
SP1: -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6:

Relevant External Links for ATOH8 Gene

GeneLoc Exon Structure for
ATOH8
ECgene alternative splicing isoforms for
ATOH8

Expression for ATOH8 Gene

mRNA expression in normal human tissues for ATOH8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for ATOH8 Gene Hs.135569

mRNA Expression by UniProt/SwissProt for ATOH8 Gene

Q96SQ7-ATOH8_HUMAN
Tissue specificity: Expressed in lung, liver, kidney, heart and pancreas. Expressed in endothel of umbilical vessels.
genes like me logo Genes that share expression patterns with ATOH8: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ATOH8 Gene

Orthologs for ATOH8 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATOH8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATOH8 35
  • 89.98 (n)
  • 91.14 (a)
ATOH8 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atoh8 35
  • 85.97 (n)
  • 86.39 (a)
Atoh8 16
Atoh8 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATOH8 35
  • 93.8 (n)
  • 92.25 (a)
ATOH8 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atoh8 35
  • 86.39 (n)
  • 86.08 (a)
dog
(Canis familiaris)
Mammalia ATOH8 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATOH8 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATOH8 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATOH8 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atoh8 35
  • 72.26 (n)
  • 79.56 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.22150 35
atoh8 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta net 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToOne
Species with no ortholog for ATOH8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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 ATOH8 Gene

ENSEMBL:
Gene Tree for ATOH8 (if available)
TreeFam:
Gene Tree for ATOH8 (if available)

Paralogs for ATOH8 Gene

No data available for Paralogs for ATOH8 Gene

Variants for ATOH8 Gene

Sequence variations from dbSNP and Humsavar for ATOH8 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs17851881 - 85,754,638(+) GGGTC(A/C/T)GCGTC nc-transcript-variant, reference, missense
rs727123 -- 85,791,310(-) AAAGC(C/T)GTTTC nc-transcript-variant, utr-variant-3-prime
rs734042 -- 85,787,973(-) AGGGG(C/T)GGGCC nc-transcript-variant, utr-variant-3-prime
rs736991 -- 85,787,222(+) GGGTG(A/G)TGAAA nc-transcript-variant, utr-variant-3-prime
rs748064 -- 85,789,199(-) GGGAT(A/G)GGAGG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATOH8 Gene

Variant ID Type Subtype PubMed ID
nsv874468 CNV Loss 21882294
dgv4204n71 CNV Loss 21882294
nsv829487 CNV Gain 20364138

Variation tolerance for ATOH8 Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.77; 78.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATOH8 Gene

HapMap Linkage Disequilibrium report
ATOH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATOH8 Gene

Disorders for ATOH8 Gene

Relevant External Links for ATOH8

Genetic Association Database (GAD)
ATOH8
Human Genome Epidemiology (HuGE) Navigator
ATOH8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATOH8

No disorders were found for ATOH8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATOH8 Gene

Publications for ATOH8 Gene

  1. Gene expression profile of human endothelial cells exposed to sustained fluid shear stress. (PMID: 12419857) Wasserman S.M. … Topper J.N. (Physiol. Genomics 2002) 2 3 4 67
  2. ATOH8: a novel marker in human muscle fiber regeneration. (PMID: 25514850) GA1ttsches A.K. … Vorgerd M. (Histochem. Cell Biol. 2015) 3
  3. Loss of ATOH8 Increases Stem Cell Features of Hepatocellular Carcinoma Cells. (PMID: 26099525) Song Y. … Guan X.Y. (Gastroenterology 2015) 3
  4. The transcription factor ATOH8 is regulated by erythropoietic activity and regulates HAMP transcription and cellular pSMAD1,5,8 levels. (PMID: 24236640) Patel N. … McKie A.T. (Br. J. Haematol. 2014) 3
  5. The role of Hath6, a newly identified shear-stress-responsive transcription factor, in endothelial cell differentiation and function. (PMID: 24463812) Fang F. … Pei X. (J. Cell Sci. 2014) 3

Products for ATOH8 Gene

Sources for ATOH8 Gene

Content