Version 5.4
Homo sapiens Protein: RD3
Summary
InnateDB Protein IDBP-106508.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RD3
Protein Name retinal degeneration 3
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000355969
InnateDB Gene IDBG-106506 (RD3)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Leber congenital amaurosis 12 (LCA12) [MIM:610612]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:17186464}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Preferentially expressed in retina. {ECO:0000269PubMed:12914764}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
GO:0050896 response to stimulus
GO:0060041 retina development in camera-type eye
Cellular Component
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q7Z3Z2
PhosphoSite PhosphoSite-Q7Z3Z2
TrEMBL
UniProt Splice Variant
Entrez Gene 343035
UniGene Hs.632495
RefSeq NP_898882
HUGO HGNC:19689
OMIM 180040
CCDS CCDS1498
HPRD 12726
IMGT
EMBL AK291210 AY191519 BC065541 CH471100
GenPept AAH65541 AAP12678 BAF83899 EAW93414

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