ATOH1 (atonal bHLH transcription factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
474
Gene name Gene Name - the full gene name approved by the HGNC.
Atonal bHLH transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATOH1
Synonyms (NCBI Gene) Gene synonyms aliases
ATH1, DFNA89, HATH1, MATH-1, bHLHa14
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA89
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1578814396 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT017641 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601461 797 ENSG00000172238
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q92858
Protein name Transcription factor ATOH1 (Atonal bHLH transcription factor 1) (Class A basic helix-loop-helix protein 14) (bHLHa14) (Helix-loop-helix protein hATH-1) (hATH1) (Protein atonal homolog 1)
Protein function Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neura
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 160 → 212 Helix-loop-helix DNA-binding domain Domain
Sequence 
MSRLLHAEEWAEVKELGDHHRQPQPHHLPQPPPPPQPPATLQAREHPVYPPELSLLDSTD
PRAWLAPTLQGICTARAAQYLLHSPELGASEAAAPRDEVDGRGELVRRSSGGASSSKSPG
PVKVREQLCKLKGGVVVDELGCSRQRAPSSKQVNGVQKQRRLAANARERRRMHGLNHAFD
QLRNVIPSFNNDKKLSKYETLQMAQIYINALSELLQTPSGGEQPPPPPASCKSDHHHLRT
AASYEGGAGNATAAGAQQASGGSQRPTPPGSCRTRFSAPASAGGYSVQLDALHFSTFEDS
ALTAMMAQKNLSPSLPGSILQPVQEENSKTSPRSHRSDGEFSPHSHYSDSDEAS
Sequence length 354
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Medulloblastoma Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009 18347096
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Deafness hearing loss, autosomal dominant 89 GenCC
Diabetes Diabetes GWAS
Uterine Fibroids Uterine Fibroids GWAS
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 33600825
Adenocarcinoma Associate 17549667
Adenocarcinoma Mucinous Associate 26017781, 34582650
Ataxia Associate 29740017
Barrett Esophagus Associate 19789031, 22147253
Carcinogenesis Associate 25400808, 31283928
Carcinoma Merkel Cell Associate 31283928, 33600825
Carcinoma Squamous Cell Inhibit 26648003
Colitis Associated Neoplasms Associate 26017781
Colitis Ulcerative Stimulate 34418586