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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
  • Atonal Homolog 8 (Drosophila) 2
  • Protein Atonal Homolog 8 3
  • Atonal Homolog 6 3
  • Atonal Homolog 8 3
  • BHLHA21 4
  • 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. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is NEUROD2.

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).

Additional gene information for ATOH8 Gene

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

Genomics for ATOH8 Gene

GeneHancer (GH) Regulatory Elements for ATOH8 Gene

Promoters and enhancers for ATOH8 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
GH02J085753 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 655.2 +3.9 3864 4.3 CLOCK FOXA2 MLX BMI1 ZNF48 RAD21 YY1 ZNF335 GLIS2 EGR1 ATOH8 RNU1-38P LOC284950 MIR6071
GH02J085751 Enhancer 0.9 ENCODE dbSUPER 650.7 -0.7 -651 0.2 CTCF IRF2 ESRRA ARID4B MAX SIN3A ERF ZNF48 RAD21 GATA3 ATOH8 RNU1-38P GC02M085730
GH02J085750 Enhancer 0.6 dbSUPER 650.7 +0.3 288 1.4 CTCF IRF2 STAT1 ESRRA RXRA ARID4B SIN3A ERF MNT ZNF48 ATOH8 MIR6071
GH02J085701 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 27.1 -46.9 -46905 6.7 CLOCK FOXA2 ARNT SIN3A ZNF2 IRF4 YY1 E2F8 ZNF207 ZNF143 ATOH8 GNLY LOC100130649 SFTPB C2orf68 USP39 RNU1-38P LOC284950 VAMP8 SH2D6
GH02J085709 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 25.6 -39.7 -39723 4.7 FOXA2 PKNOX1 RAD21 RARA YY1 EGR1 HSF1 FOS EGR2 RXRA GNLY ATOH8 LOC100130649 USP39 SFTPB LOC105374845 LOC284950 KDM3A GC02M085730 RNU1-38P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATOH8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATOH8 gene promoter:
  • STAT2
  • N-Myc
  • STAT1
  • STAT1alpha
  • STAT1beta
  • AREB6
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for ATOH8 Gene

Genomic Locations for ATOH8 Gene
chr2:85,751,344-85,791,383
(GRCh38/hg38)
Size:
40,040 bases
Orientation:
Plus strand
chr2:85,978,467-86,018,506
(GRCh37/hg19)
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

Post-translational modifications for ATOH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATOH8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATOH8 Gene

Domains & Families for ATOH8 Gene

Gene Families for ATOH8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

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.
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).

Phenotypes From GWAS Catalog for ATOH8 Gene

Gene Ontology (GO) - Molecular Function for ATOH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IDA 24236640
GO:0008134 transcription factor binding IEA --
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

Clone 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
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 ATOH8 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATOH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 24463812
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with ATOH8: view

Pathways & Interactions for ATOH8 Gene

SuperPathways for ATOH8 Gene

No Data Available

Interacting Proteins for ATOH8 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000304676%0d%0a9606.ENSP00000262965%0d%0a
Selected Interacting proteins: Q96SQ7-ATOH8_HUMAN ENSP00000304676 for ATOH8 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ATOH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001704 formation of primary germ layer IEA,ISS --
GO:0001937 negative regulation of endothelial cell proliferation IMP 24463812
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II 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

mRNA/cDNA for ATOH8 Gene

Unigene Clusters for ATOH8 Gene

Atonal homolog 8 (Drosophila):
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ATOH8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ATOH8 Gene:

ATOH8

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.

Evidence on tissue expression from TISSUES for ATOH8 Gene

  • Nervous system(4.4)
  • Eye(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with ATOH8: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ATOH8 34 33
  • 93.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATOH8 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATOH8 34 33
  • 89.98 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atoh8 33
  • 86.39 (n)
mouse
(Mus musculus)
Mammalia Atoh8 16 34 33
  • 85.97 (n)
oppossum
(Monodelphis domestica)
Mammalia ATOH8 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATOH8 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATOH8 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atoh8 33
  • 72.26 (n)
zebrafish
(Danio rerio)
Actinopterygii atoh8 34
  • 47 (a)
OneToOne
Dr.22150 33
fruit fly
(Drosophila melanogaster)
Insecta net 34
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
OneToOne
Species where no ortholog for ATOH8 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATOH8: view image

Paralogs for ATOH8 Gene

genes like me logo Genes that share paralogs with ATOH8: view

Variants for ATOH8 Gene

Sequence variations from dbSNP and Humsavar for ATOH8 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000072961 -- 85,789,298(+) A/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000112249 -- 85,788,048(+) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000137133 -- 85,767,528(+) A/C intron_variant
rs1000175199 -- 85,766,766(+) C/T intron_variant
rs1000196374 -- 85,771,755(+) A/G intron_variant

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

Variant ID Type Subtype PubMed ID
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)

Additional Variant Information for ATOH8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATOH8

SNP Genotyping and Copy Number Assay Products

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

Disorders for ATOH8 Gene

Additional Disease Information for ATOH8

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

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 SM … Topper JN (Physiological genomics 2002) 2 3 4 58
  2. The role of Hath6, a newly identified shear-stress-responsive transcription factor, in endothelial cell differentiation and function. (PMID: 24463812) Fang F … Pei X (Journal of cell science 2014) 3 4 58
  3. The transcription factor ATOH8 is regulated by erythropoietic activity and regulates HAMP transcription and cellular pSMAD1,5,8 levels. (PMID: 24236640) Patel N … McKie AT (British journal of haematology 2014) 3 4 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ATOH8 Gene

Sources for ATOH8 Gene

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