ATOH7 (atonal bHLH transcription factor 7)

2014-11-01  

Identity

HGNC
LOCATION
10q21.3
LOCUSID
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/css/js/lib/zoomerang.js