CABP2
entrez
51475
canonical
uniprot
Q9NPB3
canonical
ensembl
ENSG00000167791
resolver
ensp
ENSP00000294288
resolver
genesymbol
CABP2
resolver
hgnc
HGNC:1385
resolver
uniprot
F1T0K2
resolver
uniprot_entry
CABP2_HUMAN
resolver
uniprot_entry
F1T0K2_HUMAN
resolver
amino_acid_sequence
MGNCAKRPWRRGPKDPLQWLGSPPRGSCPSPSSSPKEQGDPAPGVQGYSVLNSLVGPACIFLRPSIAATQLDRELRPEEIEELQVAFQEFDRDRDGYIGCRELGACMRTLGYMPTEMELIEISQQISGGKVDFEDFVELMGPKLLAETADMIGVRELRDAFREFDTNGDGRISVGELRAALKALLGERLSQREVDEILQDVDLNGDGLVDFEEFVRMMSR
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:22981119, ECO:0000269|PubMed:28183797}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity). {ECO:0000250|UniProtKB:Q9JLK4, ECO:0000269|PubMed:28183797}.
uniprot
proteins
mass_dalton
24482
uniprot
proteins
pubmed
10625670
uniprot
proteins
pubmed
11108966
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19338761
uniprot
proteins
pubmed
22981119
uniprot
proteins
pubmed
28183797
uniprot
proteins
sequence_length
220
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:19338761}. Cell membrane {ECO:0000269|PubMed:19338761}; Lipid-anchor {ECO:0000269|PubMed:19338761}; Cytoplasmic side {ECO:0000269|PubMed:19338761}. Golgi apparatus {ECO:0000269|PubMed:19338761}.
uniprot
proteins