InnateDB Protein
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IDBP-41875.5
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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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C2orf71
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Protein Name
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chromosome 2 open reading frame 71
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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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ENSP00000332809
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InnateDB Gene
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IDBG-41873 (C2orf71)
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Protein Structure
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Function |
May play an important role in the development of normal vision. {ECO:0000269PubMed:20398886}.
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Subcellular Localization |
Cell projection, cilium, photoreceptor outer segment {ECO:0000269PubMed:20398886}.
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Disease Associations |
Retinitis pigmentosa 54 (RP54) [MIM:613428]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:20398884, ECO:0000269PubMed:20398886, ECO:0000269PubMed:21412943}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Specifically expressed in retina. {ECO:0000269PubMed:20398884}.
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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 |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
A6NGG8
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PhosphoSite |
PhosphoSite-NP_001025054
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
388939
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UniGene |
Hs.629820
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RefSeq |
NP_001025054
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HUGO |
HGNC:34383
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OMIM |
613425
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CCDS |
CCDS42669
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HPRD |
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IMGT |
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EMBL |
AC105398
AK092250
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GenPept |
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