ATOH7 (atonal bHLH transcription factor 7)

Gene

• Entrez ID: 220202
• Gene name: Atonal bHLH transcription factor 7
• Gene symbol: ATOH7
• Synonyms: Math5, NCRNA, PHPVAR, RNANC, bHLHa13
• Chromosome: 10
• Chromosome location: 10q21.3|10q21.3-q22.1
• Summary: 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 609875
• HGNC: 13907
• e!Ensembl: 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Persistent hyperplastic primary vitreous	Persistent Hyperplastic Primary Vitreous, Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	rs587777664, rs587777666, rs878853243	22645276, 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, rs148542782, rs1057519340, rs756064750, rs369858688, rs749073455, rs1411557416, rs377049098, rs771076928, rs56010818, rs777678299, rs1572110097, rs1408683917, rs200731840, rs1572153816, rs1387582423, rs944452644, rs72549376	22068589

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital cataract microcornea with corneal opacity	Congenital cataract microcornea with corneal opacity
Esotropia	Esotropia
Glaucoma, congenital	Hydrophthalmos
Leukocoria	Leukocoria
Microcornea	Microcornea
Pendular nystagmus	Pendular Nystagmus
Persistent fetal vasculature	RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL		22645276
Persistent pupillary membranes	Persistent pupillary membranes
Phthisis bulbi	Phthisis bulbi
Retinal nonattachment	Retinal nonattachment
Synechiae	Posterior synechiae