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

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

    Summary

    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 SMAD protein signal transduction; positive regulation of endothelial cell differentiation; and regulation of gene expression. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in fat (RPKM 7.4), lung (RPKM 4.9) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ATOH8 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85753991..85791383)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85755861..85793443)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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
    part_of 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

    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)

    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_032827.7NP_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:231282
      HLH; Helix-loop-helix DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_011533139.2XP_011531441.1  transcription factor ATOH8 isoform X1

      Conserved Domains (1) summary
      pfam00010
      Location:231282
      HLH; Helix-loop-helix DNA-binding domain
    2. XM_006712122.4XP_006712185.1  transcription factor ATOH8 isoform X2

      Conserved Domains (1) summary
      pfam00010
      Location:231282
      HLH; Helix-loop-helix DNA-binding domain
    3. XM_047446094.1XP_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_054344247.1XP_054200222.1  transcription factor ATOH8 isoform X1

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

    3. XM_054344249.1XP_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