ATOH7 (atonal bHLH transcription factor 7)

2014-11-01  

Identity

HGNC
ATOH7
LOCATION
10q21.3
LOCUSID
220202
ALIAS
Math5,NCRNA,PHPVAR,RNANC,bHLHa13

Other Information

Locus ID:

NCBI: 220202
MIM: 609875
HGNC: 13907
Ensembl: ENSG00000179774

Variants:

dbSNP: 220202
ClinVar: 220202
TCGA: ENSG00000179774
COSMIC: ATOH7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179774ENST00000373673Q8N100
ENSG00000179774ENST00000373673F1T0H4

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
353899702023OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.1
353899702023OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.1
351629752022Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.2
370896972022Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.0
351629752022Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.2
370896972022Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.0
316962272020Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.9
316962272020Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.9
297171712018Elevated expression of human bHLH factor ATOH7 accelerates cell cycle progression of progenitors and enhances production of avian retinal ganglion cells.11
297928472018The polymorphisms of ATOH 7, ET-1 and ACE in non-arteritic anterior ischemic optic neuropathy.3
297171712018Elevated expression of human bHLH factor ATOH7 accelerates cell cycle progression of progenitors and enhances production of avian retinal ganglion cells.11
297928472018The polymorphisms of ATOH 7, ET-1 and ACE in non-arteritic anterior ischemic optic neuropathy.3
280615142017A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.9
281927942017The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.10
280615142017A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.9

Citation

Dessen P

ATOH7 (atonal bHLH transcription factor 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60606/js/lib/js/lib/jquery-3.5.1.min.js