Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84913
Gene name Gene Name - the full gene name approved by the HGNC.	Atonal bHLH transcription factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATOH8
Synonyms (NCBI Gene) Gene synonyms aliases	HATH6, bHLHa21
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p11.2

Show/Hide all(120)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016345	hsa-miR-193b-3p	Microarray	20304954
MIRT022278	hsa-miR-124-3p	Microarray	18668037
MIRT669431	hsa-miR-603	HITS-CLIP	23824327
MIRT669430	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669429	hsa-miR-6078	HITS-CLIP	23824327
MIRT669428	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669427	hsa-miR-3917	HITS-CLIP	23824327
MIRT669426	hsa-miR-2277-3p	HITS-CLIP	23824327
MIRT669425	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT669431	hsa-miR-603	HITS-CLIP	23824327
MIRT669430	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT669429	hsa-miR-6078	HITS-CLIP	23824327
MIRT669428	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669427	hsa-miR-3917	HITS-CLIP	23824327
MIRT669426	hsa-miR-2277-3p	HITS-CLIP	23824327
MIRT669425	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT806199	hsa-miR-1254	CLIP-seq
MIRT806200	hsa-miR-1287	CLIP-seq
MIRT806201	hsa-miR-1301	CLIP-seq
MIRT806202	hsa-miR-150	CLIP-seq
MIRT806203	hsa-miR-185	CLIP-seq
MIRT806204	hsa-miR-1912	CLIP-seq
MIRT806205	hsa-miR-1914	CLIP-seq
MIRT806206	hsa-miR-1972	CLIP-seq
MIRT806207	hsa-miR-3116	CLIP-seq
MIRT806208	hsa-miR-3125	CLIP-seq
MIRT806209	hsa-miR-3135b	CLIP-seq
MIRT806210	hsa-miR-3153	CLIP-seq
MIRT806211	hsa-miR-3173-3p	CLIP-seq
MIRT806212	hsa-miR-3194-5p	CLIP-seq
MIRT806213	hsa-miR-3202	CLIP-seq
MIRT806214	hsa-miR-320e	CLIP-seq
MIRT806215	hsa-miR-342-3p	CLIP-seq
MIRT806216	hsa-miR-3916	CLIP-seq
MIRT806217	hsa-miR-4294	CLIP-seq
MIRT806218	hsa-miR-4299	CLIP-seq
MIRT806219	hsa-miR-4306	CLIP-seq
MIRT806220	hsa-miR-4323	CLIP-seq
MIRT806221	hsa-miR-4433	CLIP-seq
MIRT806222	hsa-miR-4469	CLIP-seq
MIRT806223	hsa-miR-4533	CLIP-seq
MIRT806224	hsa-miR-4640-3p	CLIP-seq
MIRT806225	hsa-miR-4644	CLIP-seq
MIRT806226	hsa-miR-4646-5p	CLIP-seq
MIRT806227	hsa-miR-4650-5p	CLIP-seq
MIRT806228	hsa-miR-4660	CLIP-seq
MIRT806229	hsa-miR-4668-5p	CLIP-seq
MIRT806230	hsa-miR-4690-3p	CLIP-seq
MIRT806231	hsa-miR-4779	CLIP-seq
MIRT806232	hsa-miR-5047	CLIP-seq
MIRT806233	hsa-miR-550a	CLIP-seq
MIRT806234	hsa-miR-661	CLIP-seq
MIRT806235	hsa-miR-665	CLIP-seq
MIRT1938060	hsa-miR-1237	CLIP-seq
MIRT1938061	hsa-miR-128	CLIP-seq
MIRT1938062	hsa-miR-3156-3p	CLIP-seq
MIRT1938063	hsa-miR-3174	CLIP-seq
MIRT1938064	hsa-miR-3670	CLIP-seq
MIRT806218	hsa-miR-4299	CLIP-seq
MIRT1938065	hsa-miR-4301	CLIP-seq
MIRT1938066	hsa-miR-4505	CLIP-seq
MIRT1938067	hsa-miR-4512	CLIP-seq
MIRT1938068	hsa-miR-4645-5p	CLIP-seq
MIRT1938069	hsa-miR-4656	CLIP-seq
MIRT1938070	hsa-miR-4663	CLIP-seq
MIRT1938071	hsa-miR-4673	CLIP-seq
MIRT1938072	hsa-miR-4682	CLIP-seq
MIRT1938073	hsa-miR-4765	CLIP-seq
MIRT1938074	hsa-miR-4785	CLIP-seq
MIRT1938075	hsa-miR-4787-5p	CLIP-seq
MIRT1938076	hsa-miR-544	CLIP-seq
MIRT1938077	hsa-miR-767-3p	CLIP-seq
MIRT2177547	hsa-miR-1273f	CLIP-seq
MIRT806201	hsa-miR-1301	CLIP-seq
MIRT2177548	hsa-miR-143	CLIP-seq
MIRT806202	hsa-miR-150	CLIP-seq
MIRT2177549	hsa-miR-15a	CLIP-seq
MIRT2177550	hsa-miR-15b	CLIP-seq
MIRT2177551	hsa-miR-16	CLIP-seq
MIRT806204	hsa-miR-1912	CLIP-seq
MIRT2177552	hsa-miR-195	CLIP-seq
MIRT2177553	hsa-miR-24	CLIP-seq
MIRT806210	hsa-miR-3153	CLIP-seq
MIRT2177554	hsa-miR-3664-3p	CLIP-seq
MIRT2177555	hsa-miR-3675-5p	CLIP-seq
MIRT2177556	hsa-miR-424	CLIP-seq
MIRT2177557	hsa-miR-4269	CLIP-seq
MIRT2177558	hsa-miR-4283	CLIP-seq
MIRT806218	hsa-miR-4299	CLIP-seq
MIRT2177559	hsa-miR-4326	CLIP-seq
MIRT2177560	hsa-miR-4434	CLIP-seq
MIRT2177561	hsa-miR-4437	CLIP-seq
MIRT2177562	hsa-miR-4489	CLIP-seq
MIRT2177563	hsa-miR-4514	CLIP-seq
MIRT2177564	hsa-miR-4516	CLIP-seq
MIRT806226	hsa-miR-4646-5p	CLIP-seq
MIRT806228	hsa-miR-4660	CLIP-seq
MIRT806229	hsa-miR-4668-5p	CLIP-seq
MIRT2177565	hsa-miR-4692	CLIP-seq
MIRT2177566	hsa-miR-4708-5p	CLIP-seq
MIRT2177567	hsa-miR-4742-5p	CLIP-seq
MIRT2177568	hsa-miR-4770	CLIP-seq
MIRT2177569	hsa-miR-4796-5p	CLIP-seq
MIRT2177570	hsa-miR-497	CLIP-seq
MIRT806232	hsa-miR-5047	CLIP-seq
MIRT2177571	hsa-miR-664	CLIP-seq
MIRT2384579	hsa-miR-2355-5p	CLIP-seq
MIRT2384580	hsa-miR-3160-3p	CLIP-seq
MIRT806215	hsa-miR-342-3p	CLIP-seq
MIRT806222	hsa-miR-4469	CLIP-seq
MIRT2384581	hsa-miR-4487	CLIP-seq
MIRT2384582	hsa-miR-4525	CLIP-seq
MIRT2384583	hsa-miR-4677-3p	CLIP-seq
MIRT2384584	hsa-miR-515-5p	CLIP-seq
MIRT1938076	hsa-miR-544	CLIP-seq
MIRT2384585	hsa-miR-558	CLIP-seq
MIRT2444348	hsa-miR-451b	CLIP-seq
MIRT2444349	hsa-miR-4696	CLIP-seq
MIRT2444348	hsa-miR-451b	CLIP-seq
MIRT2444349	hsa-miR-4696	CLIP-seq

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001704	Process	Formation of primary germ layer	IEA
GO:0001704	Process	Formation of primary germ layer	ISS
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	24463812
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	24236640
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	26496921
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24463812
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	24463812
GO:0010629	Process	Negative regulation of gene expression	IMP	27780851
GO:0016607	Component	Nuclear speck	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035148	Process	Tube formation	IMP	24463812
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IDA	24463812
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IMP	24463812
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24236640
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0051450	Process	Myoblast proliferation	IEA
GO:0051450	Process	Myoblast proliferation	ISS
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	24236640
GO:0070888	Function	E-box binding	IBA
GO:0070888	Function	E-box binding	IDA	24236640
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IGI	27780851
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
619820	24126	ENSG00000168874

Protein

UniProt ID

Q96SQ7

Protein name

Transcription factor ATOH8 (Class A basic helix-loop-helix protein 21) (bHLHa21) (Helix-loop-helix protein hATH-6) (hATH6) (Protein atonal homolog 8)

Protein 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, migrat

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	231 → 283	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, liver, kidney, heart and pancreas. Expressed in endothel of umbilical vessels. {ECO:0000269|PubMed:12419857}.

Sequence

MKHIPVLEDGPWKTVCVKELNGLKKLKRKGKEPARRANGYKTFRLDLEAPEPRAVATNGL
RDRTHRLQPVPVPVPVPVPVAPAVPPRGGTDTAGERGGSRAPEVSDARKRCFALGAVGPG
LPTPPPPPPPAPQSQAPGGPEAQPFREPGLRPRILLCAPPARPAPSAPPAPPAPPESTVR
PAPPTRPGESSYSSISHVIYNNHQDSSASPRKRPGEATAASSEIKALQQTRRLLANARER
TRVHTISAAFEALRKQVPCYSYGQKLSKLAILRIACNYILSLARLADLDYSADHSNLSFS
ECVQRCTRTLQAEGRAKKRKE

Sequence length

321

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event)	N/A	N/A	GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	31503425
Aortic Aneurysm Abdominal	Associate	34469433
Breast Neoplasms	Associate	28036274
Colorectal Neoplasms	Associate	31502714
COVID 19	Associate	36709793
Gaucher Disease	Associate	30988500
Glioma	Associate	18492260
Liver Neoplasms	Associate	37232357
Lung Neoplasms	Associate	36626550
Neoplasms	Inhibit	36626550

ATOH8 (atonal bHLH transcription factor 8)