InnateDB Protein
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IDBP-75987.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ATOH7
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Protein Name
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atonal homolog 7 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000362777
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InnateDB Gene
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IDBG-75985 (ATOH7)
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Protein Structure
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Function |
Transcription factor involved in the differentiation of retinal ganglion cells. {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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Disease Associations |
Retinal non-attachment, congenital, non-syndromic (RNANC) [MIM:221900]: A condition characterized by separation of the inner layers of the retina (neural retina) from the pigment epithelium. Clinical findings include lack of perception of light, massive retrolental mass, shallow anterior chamber, and nystagmus in otherwise normal individuals. {ECO:0000269PubMed:21441919}. Note=The disease is caused by mutations affecting the gene represented in this entry. RNANC is caused by a 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
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PFAM |
PF00010
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PRINTS |
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PIRSF |
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SMART |
SM00353
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TIGRFAMs |
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Modification |
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SwissProt |
Q8N100
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PhosphoSite |
PhosphoSite-Q8N100
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TrEMBL |
F1T0H4
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UniProt Splice Variant |
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Entrez Gene |
220202
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UniGene |
Hs.737072
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RefSeq |
NP_660161
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HUGO |
HGNC:13907
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OMIM |
609875
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CCDS |
CCDS7276
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HPRD |
09812
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IMGT |
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EMBL |
AB593108
AB593109
AF418922
BC032621
BK000277
CH471083
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GenPept |
AAH32621
AAL11911
BAJ84048
BAJ84049
DAA01057
EAW54269
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