Version 5.4
Homo sapiens Protein: CABP2
Summary
InnateDB Protein IDBP-60672.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CABP2
Protein Name calcium binding protein 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000294288
InnateDB Gene IDBG-60670 (CABP2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cytoplasm, perinuclear region {ECO:0000269PubMed:19338761}. Cell membrane {ECO:0000269PubMed:19338761}; Lipid-anchor {ECO:0000269PubMed:19338761}; Cytoplasmic side {ECO:0000269PubMed:19338761}. Golgi apparatus {ECO:0000269PubMed:19338761}.
Disease Associations Deafness, autosomal recessive, 93 (DFNB93) [MIM:614899]: A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid- frequencies, resulting in a distinctive shallow U-shaped audiogram. {ECO:0000269PubMed:22981119}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Retina. {ECO:0000269PubMed:11108966}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0007165 signal transduction
Cellular Component
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR002048 EF-hand domain
PFAM PF00036
PF13202
PF13405
PRINTS
PIRSF
SMART SM00054
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NPB3
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 51475
UniGene Hs.278984
RefSeq NP_057450
HUGO HGNC:1385
OMIM 607314
CCDS CCDS8170
HPRD 09535
IMGT
EMBL AF169154 AF170811 AP001184
GenPept AAF25788 AAF26283

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