Version 5.4
Homo sapiens Protein: C8orf37
Summary
InnateDB Protein IDBP-29321.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C8orf37
Protein Name chromosome 8 open reading frame 37
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000286688
InnateDB Gene IDBG-29319 (C8orf37)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm {ECO:0000269PubMed:22177090}. Note=In the retina, located at the base of the primary cilium.
Disease Associations Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269PubMed:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 64 (RP64) [MIM:614500]: 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:22177090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level). {ECO:0000269PubMed:22177090}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0030054 cell junction
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96NL8
PhosphoSite PhosphoSite-Q96NL8
TrEMBL F4Y588
UniProt Splice Variant
Entrez Gene 157657
UniGene Hs.548157
RefSeq NP_808880
HUGO HGNC:27232
OMIM 614477
CCDS CCDS6268
HPRD 14104
IMGT
EMBL AK055162 CH471060 GQ240139
GenPept ADE62519 BAB70866 EAW91744 EAW91745

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