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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	220202
Gene name Gene Name - the full gene name approved by the HGNC.	Atonal bHLH transcription factor 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATOH7
Synonyms (NCBI Gene) Gene synonyms aliases	Math5, NCRNA, PHPVAR, RNANC, bHLHa13
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PHPVAR
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q21.3\|10q21.3-q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138274069	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs587777664	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs587777665	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777666	T>G	Pathogenic	Coding sequence variant, missense variant
rs754494518	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(37)

miRTarBase ID	miRNA	Experiments
MIRT806186	hsa-miR-1183	CLIP-seq
MIRT806187	hsa-miR-21	CLIP-seq
MIRT806188	hsa-miR-3177-5p	CLIP-seq
MIRT806189	hsa-miR-3646	CLIP-seq
MIRT806190	hsa-miR-3663-3p	CLIP-seq
MIRT806191	hsa-miR-412	CLIP-seq
MIRT806192	hsa-miR-4436a	CLIP-seq
MIRT806193	hsa-miR-4502	CLIP-seq
MIRT806194	hsa-miR-4672	CLIP-seq
MIRT806195	hsa-miR-4700-3p	CLIP-seq
MIRT806196	hsa-miR-4797-5p	CLIP-seq
MIRT806197	hsa-miR-500a	CLIP-seq
MIRT806198	hsa-miR-590-5p	CLIP-seq
MIRT1938052	hsa-miR-1224-5p	CLIP-seq
MIRT1938053	hsa-miR-3169	CLIP-seq
MIRT1938054	hsa-miR-3921	CLIP-seq
MIRT1938055	hsa-miR-4515	CLIP-seq
MIRT1938056	hsa-miR-4649-3p	CLIP-seq
MIRT1938057	hsa-miR-4653-5p	CLIP-seq
MIRT1938058	hsa-miR-4751	CLIP-seq
MIRT1938059	hsa-miR-4768-5p	CLIP-seq
MIRT1938052	hsa-miR-1224-5p	CLIP-seq
MIRT1938053	hsa-miR-3169	CLIP-seq
MIRT1938054	hsa-miR-3921	CLIP-seq
MIRT1938055	hsa-miR-4515	CLIP-seq
MIRT1938056	hsa-miR-4649-3p	CLIP-seq
MIRT1938057	hsa-miR-4653-5p	CLIP-seq
MIRT1938058	hsa-miR-4751	CLIP-seq
MIRT1938059	hsa-miR-4768-5p	CLIP-seq
MIRT1938052	hsa-miR-1224-5p	CLIP-seq
MIRT1938053	hsa-miR-3169	CLIP-seq
MIRT1938054	hsa-miR-3921	CLIP-seq
MIRT1938055	hsa-miR-4515	CLIP-seq
MIRT1938056	hsa-miR-4649-3p	CLIP-seq
MIRT1938057	hsa-miR-4653-5p	CLIP-seq
MIRT1938058	hsa-miR-4751	CLIP-seq
MIRT1938059	hsa-miR-4768-5p	CLIP-seq

Show/Hide all(14)

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:0003407	Process	Neural retina development	IMP	21441919
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007623	Process	Circadian rhythm	IEA
GO:0021554	Process	Optic nerve development	IMP	21441919
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0043153	Process	Entrainment of circadian clock by photoperiod	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
609875	13907	ENSG00000179774

Protein

UniProt ID

Q8N100

Protein name

Transcription factor ATOH7 (Atonal bHLH transcription factor 7) (Class A basic helix-loop-helix protein 13) (bHLHa13) (Protein atonal homolog 7)

Protein function

Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227). Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227). Binds to gene promoters and enhancer elements, and th

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	41 → 93	Helix-loop-helix DNA-binding domain	Domain

Sequence

MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLAANARERRRMQGLNTAF
DRLRRVVPQWGQDKKLSKYETLQMALSYIMALTRILAEAERFGSERDWVGLHCEHFGRDH
YLPFPGAKLPGESELYSQRLFGFQPEPFQMAT

Sequence length

152

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Persistent hyperplastic primary vitreous	Persistent Hyperplastic Primary Vitreous, Persistent Hyperplastic Primary Vitreous, Autosomal Recessive, Persistent hyperplastic primary vitreous	rs587777664, rs587777666, rs878853243	22645276, 21441919, 22068589, 11889557
Segment dysgenesis	ANTERIOR SEGMENT DYSGENESIS 7	rs28936700, rs28936701, rs55989760, rs72549389, rs72549387, rs1558603396, rs587778873, rs587778875, rs104894979, rs558163499, rs587777572, rs369535598, rs587777573, rs766425037, rs72549380 View all (17 more)	22068589

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Persistent Hyperplastic Primary Vitreous	persistent hyperplastic primary vitreous	GenCC
Alzheimer disease	Alzheimer disease	GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
Cataract	Associate	22068589
Cataract microcornea syndrome	Associate	22068589
Corneal Opacity	Associate	22068589
Eye Abnormalities	Associate	22068589
Eye Diseases	Associate	31696227
Familial Exudative Vitreoretinopathies	Associate	37089697
Glaucoma	Associate	27293372
Glaucoma Open Angle	Associate	21398277, 22761751, 25414181, 25798827
Growth and Developmental Retardation Ocular Ptosis Cardiac Defect and Anal Atresia	Associate	22068589
Hyperplasia	Associate	31696227
Keratoconus	Associate	39300613
Microphthalmos	Associate	22068589
Nystagmus Pathologic	Associate	22068589
O'Donnell Pappas syndrome	Associate	31696227
Optic Nerve Hypoplasia	Associate	22068589, 31696227, 35162975
Retinal Diseases	Associate	27293372
Retinal Dysplasia	Associate	22068589
Retinal Nonattachment Nonsyndromic Congenital	Associate	22068589, 28192794
Retinitis	Associate	31696227
Vascular Diseases	Associate	31696227

ATOH7 (atonal bHLH transcription factor 7)