InnateDB Protein
|
IDBP-60674.7
|
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
|
ENSP00000312037
|
InnateDB Gene
|
IDBG-60670 (CABP2)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR002048
EF-hand domain
|
PFAM |
PF00036
PF13202
PF13405
|
PRINTS |
|
PIRSF |
|
SMART |
SM00054
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9NPB3
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
51475
|
UniGene |
Hs.278984
|
RefSeq |
|
HUGO |
HGNC:1385
|
OMIM |
607314
|
CCDS |
|
HPRD |
09535
|
IMGT |
|
EMBL |
AF169154
AF170811
AP001184
|
GenPept |
AAF25788
AAF26283
|
|
|