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
205489462010A genome-wide association study of optic disc parameters.85
214271292011Common genetic variants associated with open-angle glaucoma.67
203952392010Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.57
203952392010Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.57
214419192011Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.51
213070882011Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.38
226452762012ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.19
220685892012Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.13
222225112012Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma.13
254892222014Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.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/atoh7