U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ATOH8 atonal bHLH transcription factor 8 [ Homo sapiens (human) ]

Gene ID: 84913, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
ATOH8provided by HGNC
Official Full Name
atonal bHLH transcription factor 8provided by HGNC
Primary source
HGNC:HGNC:24126
See related
Ensembl:ENSG00000168874 MIM:619820; AllianceGenome:HGNC:24126
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HATH6; bHLHa21
Summary
Enables DNA-binding transcription factor activity and E-box binding activity. Involved in several processes, including positive regulation of SMAD protein signal transduction; positive regulation of endothelial cell differentiation; and regulation of gene expression. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in fat (RPKM 7.4), lung (RPKM 4.9) and 19 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ATOH8 in Genome Data Viewer
Location:
2p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85753991..85791383)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85755861..85793443)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85981114..86018506)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907851 Neighboring gene RNA, U1 small nuclear 38, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:85977783-85978003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85992106-85992689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85992690-85993272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85993273-85993855 Neighboring gene Sharpr-MPRA regulatory region 11465 Neighboring gene VISTA enhancer hs1652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:86003358-86003858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:86003859-86004359 Neighboring gene microRNA 6071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:86023815-86024558 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:86031662-86031859 Neighboring gene uncharacterized LOC284950 Neighboring gene RN7SK pseudogene 83 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16139 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:86115293-86115793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11709

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. ATOH8 promotes HBV immune tolerance by inhibiting the pyroptotic pathway in hepatocytes. Liu X, et al. Mol Med Rep, 2023 Jul. PMID 37232357, Free PMC Article
  2. Gene expression profile of human endothelial cells exposed to sustained fluid shear stress. Wasserman SM, et al. Physiol Genomics, 2002 Dec 26. PMID 12419857
  3. Shear stress activates ATOH8 via autocrine VEGF promoting glycolysis dependent-survival of colorectal cancer cells in the circulation. Huang Q, et al. J Exp Clin Cancer Res, 2020 Jan 30. PMID 32000836, Free PMC Article
  4. High expression of atonal homolog 8 predicts a poor clinical outcome in patients with colorectal cancer and contributes to tumor progression. Ye M, et al. Oncol Rep, 2017 May. PMID 28393252
  5. Downregulation of ATOH8 induced by EBV-encoded LMP1 contributes to the malignant phenotype of nasopharyngeal carcinoma. Wang Z, et al. Oncotarget, 2016 May 3. PMID 27049918, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ATOH8 Expression Is Regulated by BMP2 and Plays a Key Role in Human Endometrial Stromal Cell Decidualization.
    Title: ATOH8 Expression Is Regulated by BMP2 and Plays a Key Role in Human Endometrial Stromal Cell Decidualization.
  2. ATOH8 promotes HBV immune tolerance by inhibiting the pyroptotic pathway in hepatocytes.
    Title: ATOH8 promotes HBV immune tolerance by inhibiting the pyroptotic pathway in hepatocytes.
  3. ATOH8 binds SMAD3 to induce cellular senescence and prevent Ras-driven malignant transformation.
    Title: ATOH8 binds SMAD3 to induce cellular senescence and prevent Ras-driven malignant transformation.
  4. A novel isoform of ATOH8 promotes the metastasis of breast cancer by regulating RhoC.
    Title: A novel isoform of ATOH8 promotes the metastasis of breast cancer by regulating RhoC.
  5. Long non-coding RNA CIR inhibits chondrogenic differentiation of mesenchymal stem cells by epigenetically suppressing ATOH8 via methyltransferase EZH2.
    Title: Long non-coding RNA CIR inhibits chondrogenic differentiation of mesenchymal stem cells by epigenetically suppressing ATOH8 via methyltransferase EZH2.
  6. Shear stress activates ATOH8 via autocrine VEGF promoting glycolysis dependent-survival of colorectal cancer cells in the circulation.
    Title: Shear stress activates ATOH8 via autocrine VEGF promoting glycolysis dependent-survival of colorectal cancer cells in the circulation.
  7. Lnc-PDZD7 promotes stemness properties and suppresses chemosensitivity though the miR-101/EZH2/ATOH8 pathway.
    Title: Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression.
  8. These findings raise the possibility that ATOH8 is a pivotal regulator in nasopharyngeal carcinoma tumorigenesis
    Title: Downregulation of ATOH8 induced by EBV-encoded LMP1 contributes to the malignant phenotype of nasopharyngeal carcinoma.
  9. Data demonstrated that ATOH8 expression was upregulated in colorectal cancer (CRC) patients, and seems to increase the malignancy potential of CRC.
    Title: High expression of atonal homolog 8 predicts a poor clinical outcome in patients with colorectal cancer and contributes to tumor progression.
  10. calcineurin mediates the subcellular localization of ATOH8, which reveals the regulation of ATOH8 transcriptional activity by calcium signaling via calcineurin.
    Title: A novel interaction between ATOH8 and PPP3CB.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ14708, FLJ38730

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor binding IEA
Inferred from Electronic Annotation
more info
  
enables E-box binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables E-box binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in formation of primary germ layer ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in myoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of endothelial cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of endothelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of miRNA transcription IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tube formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
transcription factor ATOH8
Names
atonal homolog 6
atonal homolog 8
atonal homolog bHLH transcription factor 8
basic helix loop helix transcription factor 6
class A basic helix-loop-helix protein 21
helix-loop-helix protein hATH-6
protein atonal homolog 8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032827.7 → NP_116216.2  transcription factor ATOH8

    See identical proteins and their annotated locations for NP_116216.2

    Status: VALIDATED

    Source sequence(s)
    AC012454, BC094832, BM671127, BQ018438, DA629171
    Consensus CDS
    CCDS1985.1
    UniProtKB/Swiss-Prot
    Q504S2, Q659B0, Q96SQ7
    Related
    ENSP00000304676.3, ENST00000306279.4
    Conserved Domains (1) summary
    pfam00010
    Location:231 → 282
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    85753991..85791383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533139.2 → XP_011531441.1  transcription factor ATOH8 isoform X1

    Conserved Domains (1) summary
    pfam00010
    Location:231 → 282
    HLH; Helix-loop-helix DNA-binding domain

  2. XM_006712122.4 → XP_006712185.1  transcription factor ATOH8 isoform X2

    Conserved Domains (1) summary
    pfam00010
    Location:231 → 282
    HLH; Helix-loop-helix DNA-binding domain

  3. XM_047446094.1 → XP_047302050.1  transcription factor ATOH8 isoform X3

RNA

  1. XR_939732.2 RNA Sequence

  2. XR_939731.2 RNA Sequence

  3. XR_939733.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    85755861..85793443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344247.1 → XP_054200222.1  transcription factor ATOH8 isoform X1

  2. XM_054344248.1 → XP_054200223.1  transcription factor ATOH8 isoform X2

  3. XM_054344249.1 → XP_054200224.1  transcription factor ATOH8 isoform X3

RNA

  1. XR_008486571.1 RNA Sequence

  2. XR_008486570.1 RNA Sequence

  3. XR_008486572.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96SQ7.2 GenPept UniProtKB/Swiss-Prot:Q96SQ7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools