Version 5.4
Homo sapiens Protein: C2orf71
Summary
InnateDB Protein IDBP-41875.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C2orf71
Protein Name chromosome 2 open reading frame 71
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000332809
InnateDB Gene IDBG-41873 (C2orf71)
Protein Structure
UniProt Annotation
Function May play an important role in the development of normal vision. {ECO:0000269PubMed:20398886}.
Subcellular Localization Cell projection, cilium, photoreceptor outer segment {ECO:0000269PubMed:20398886}.
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.
Tissue Specificity Specifically expressed in retina. {ECO:0000269PubMed:20398884}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
GO:0050896 response to stimulus
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0072372 primary cilium
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A6NGG8
PhosphoSite PhosphoSite-NP_001025054
TrEMBL
UniProt Splice Variant
Entrez Gene 388939
UniGene Hs.629820
RefSeq NP_001025054
HUGO HGNC:34383
OMIM 613425
CCDS CCDS42669
HPRD
IMGT
EMBL AC105398 AK092250
GenPept

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca