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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-150973 (e-PCR)
- UniSTS:173583

RH103908 (e-PCR)
- UniSTS:98233

G31073 (e-PCR)
- UniSTS:40917

D2S2232 (e-PCR), detects polymorphism
- UniSTS:43501

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

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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)

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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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

85753991..85791383

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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