ATOH7 - atonal bHLH transcription factor 7 Gene

Homo sapiens

Also known as Math5; NCRNA; RNANC; PHPVAR; bHLHa13

Gene ID: 220202 | Gene type: protein coding

About ATOH7

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:68,230,595-68,232,113 (from NCBI)

This gene has 1 transcript (splice variant), 180 orthologues, 15 paralogues and is associated with 5 phenotypes.

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 ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]

ATOH7 Products(1)

mRNA	Protein	Name
NM_145178.4	NP_660161.1	transcription factor ATOH7

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31696227	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	31696227	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within neural retina development	IMP IMP: Inferred from mutant phenotype	21441919	GOA
acts upstream of or within optic nerve development	IMP IMP: Inferred from mutant phenotype	21441919	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	31696227	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	31696227	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATOH7 Protein Structure

HLH

0
100
152 a.a.

Protein Preferred Names

Protein Names

transcription factor ATOH7

atonal homolog 7

Related Diseases

Diseases

Alias

Persistent Hyperplastic Primary Vitreous, Autosomal Recessive

PHPVAR	Retinal Nonattachment, Nonsyndromic Congenital
Rnanc	Persistent Fetal Vasculature
Retinal Nonattachment And Falciform Detachment	Congenital Non-Syndromic Retinal Non-Attachment
Ncrna	Retinal Detachment Congenital
Retinal Non-Attachment And Falciform Detachment	Vitreous, Primary, Hyperplastic, Persistent, Autosomal Recessive

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment	Ncrna Disease
Non-Syndromic Congenital Retinal Non-Attachment	Pfvs
Phpv	Persistent Fetal Vasculature Syndrome

Anterior Segment Dysgenesis 7

Corneal Opacification With Other Ocular Anomalies	ASGD7
Copoa	Sclerocornea With Other Ocular Anomalies
Anterior Segment Dysgenesis 7, With Sclerocornea	Congenital Cataract Microcornea With Corneal Opacity
Ccmco	Dysgenesis, Anterior Segment, With Sclerocornea , Type 7

Retinal Detachment

Retinal Detachments	Rhegmatogenous Retinal Detachment
Ruptured Retina With Detachment	Retinal Hole With Detachment

Cataract-Glaucoma

Cataract-Glaucoma Syndrome

Nonarteritic Anterior Ischemic Optic Neuropathy

Anterior Ischemic Optic Neuropathy	Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
NAION	Non-Arteritic Anterior Ischemic Optic Neuropathy
Ischemic Optic Neuropathy	Aion
Optic Neuropathy, Ischemic	Naion, Susceptibility To
Optic Neuropathy, Anterior Ischemic	Optic Neuropathy, Anterior Ischemic, Susceptibility To
Non-Arteritic Anterior Ischaemic Optic Neuropathy	Nonarteritic Anterior Ischaemic Optic Neuropathy
Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To	Ion - [Ischemic Optic Neuropathy]
Neuropathic Ischaemia Of N.Opticus	Ischaemic Neuropathy Of Optic Nerve

Glaucoma, Normal Tension

Low Tension Glaucoma	Glaucoma, Normal Tension, Susceptibility To
Normal Tension Glaucoma	Ntg
Glaucoma, Normal Pressure	NPG
Glaucoma, Normal Pressure, Susceptibility To	Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E	Primary Open Angle Glaucoma
POAG	Adult-Onset Primary Open Angle Glaucoma
Chronic Simple Glaucoma	GLC1E
Primary Open Angle Glaucoma 1e	Glaucoma, Open Angle, Primary

Leukocoria

Leucocoria

Open-Angle Glaucoma

Glaucoma Simplex	Pigmentary Glaucoma
Wide-Angle Glaucoma	Glaucoma, Open-Angle
Open Angle Glaucoma	Glaucoma Open-Angle
Chronic Simple Glaucoma	Coag - [Chronic Open-Angle Glaucoma]
Csg - [Chronic Simple Glaucoma]	Poag - [Primary Open-Angle Glaucoma]
Oag - [Open-Angle Glaucoma]	Chronic Glaucoma
Chronic Open Angle Glaucoma	Simple Glaucoma
Chronic Noncongestive Glaucoma	Ltg - [Low Tension Glaucoma]
Noncongestive Glaucoma	Nonobstructive Glaucoma
Normal Pressure Glaucoma	Primary Low Tension Glaucoma
Low-Tension Glaucoma	Residual Stage Low Tension Glaucoma
Open Cleft Glaucoma

Vitreous Disease

Disorder Of Vitreous Body

Intraocular Pressure Quantitative Trait Locus

Glaucoma	IOPQTL
Glaucoma, Susceptibility To	Postinfectious Glaucoma
Glaucoma With Ocular Inflammation	Glaucoma Secondary To Eye Inflammation
Traumatic Glaucoma	Glaucoma With Concussion Of Globe
Glaucoma Due To Ocular Trauma	Glaucoma Associated With Ocular Trauma
Glaucoma Secondary To Drugs

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy	3-Methylglutaconic Aciduria Type 3
Costeff Syndrome	Mga3
Costeff Optic Atrophy Syndrome	Optic Atrophy Plus Syndrome
Infantile Optic Atrophy With Chorea And Spastic Paraplegia	3-Methylglutaconic Aciduria Type Iii
Autosomal Recessive Optic Atrophy Plus Syndrome	Autosomal Recessive Optic Atrophy Type 3
Opa3 Defect	MGCA3
Mga, Type Iii	Iraqi Jewish Optic Atrophy Plus
Mga Type Iii	Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
Iraqi-Jewish 'Optic Atrophy Plus'	Optic Atrophy 3, Autosomal Recessive
Opa3, Autosomal Recessive	Opa3-Related 3-Methylglutaconic Aciduria
Iraqi-Jewish Optic Atrophy Plus	Atrophy Of Optic Disc
3-Alpha Methylglutaconic Aciduria Type Iii	Optic Atrophy 3
Optic Atrophy Infantile With Chorea And Spastic Paraplegia	Autosomal Recessive Opa3
Autosomal Recessive Optic Atrophy 3	3-Methylglutaconic Aciduria 3
3-Alpha-Methylglutaconic Aciduria Type 3	Optic Atrophy 3 Autosomal Recessive
Atrophy, Optic	Atrophy, Optic, Plus Syndrome
Optic Nerve Atrophy	Primary Optic Atrophy
Oa - [Optic Atrophy]	Second Cranial Nerve Atrophy
Second Cranium Nerve Atrophy

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Axenfeld-Rieger Syndrome

Axenfeld Syndrome	Rieger Syndrome
Rieger Anomaly	Axenfeld Anomaly
Anomaly, Rieger'S	Hagedoom Syndrome
Rgs - Rieger Syndrome	Rieger'S Anomaly
Goniodysgenesis Hypodontia	Iridogoniodysgenesis With Somatic Anomalies
Ars	Axenfeld And Rieger Anomaly
Axra	Axrs
Rieger Eye Malformation Sequence

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Norrie Disease

Atrophia Bulborum Hereditaria	Episkopi Blindness
Pseudoglioma	ND
Norrie-Warburg Disease	Anderson-Warburg Syndrome
Fetal Iritis Syndrome	Norrie Syndrome
Norrie-Warburg Syndrome	Ndp
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration	Norrie'S Disease
Oligophrenia Microphthalmus	Pseudoglioma Congenita
Whitnall-Norman Syndrome

Septooptic Dysplasia

Septo-Optic Dysplasia	De Morsier Syndrome
Growth Hormone Deficiency With Pituitary Anomalies	SOD
Pituitary Hormone Deficiency, Combined, 5	Septo-Optic Dysplasia Spectrum
Septo-Optic Dysplasia With Growth Hormone Deficiency	Pituitary Hormone Deficiency, Combined 5
Hypopituitarism And Septooptic 'Dysplasia'	GHDPA
CPHD5	Dysplasia, Septo-Optic
Kallmann Syndrome

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01166	ATOH7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATOH7	VGNC	VGNC:38236
Bos taurus	ATOH7	VGNC	VGNC:26271
Felis catus	ATOH7	VGNC	VGNC:97363
Rattus norvegicus	ATOH7	RGD	RGD:1304957
Macaca mulatta	ATOH7	VGNC	VGNC:70068
Mus musculus	ATOH7	MGD	MGI:1355553

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