CIB2
entrez
10518
canonical
uniprot
O75838
canonical
ensembl
ENSG00000136425
resolver
ensp
ENSP00000258930
resolver
ensp
ENSP00000442459
resolver
ensp
ENSP00000452752
resolver
ensp
ENSP00000453488
resolver
ensp
ENSP00000605393
resolver
ensp
ENSP00000750627
resolver
enst
ENST00000560618
resolver
genesymbol
CIB2
resolver
genesymbol_syn
KIP2
resolver
hgnc
HGNC:24579
resolver
uniprot
B4DDF0
resolver
uniprot
H0YKC8
resolver
uniprot
H0YM71
resolver
uniprot
Q05BT6
resolver
uniprot_entry
CIB2_HUMAN
resolver
uniprot_entry
H0YKC8_HUMAN
resolver
uniprot_sec
B4DDF0
resolver
uniprot_sec
H0YM71
resolver
uniprot_sec
Q05BT6
resolver
amino_acid_sequence
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies. {ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422, ECO:0000269|PubMed:28663585, ECO:0000269|PubMed:29084757, ECO:0000269|PubMed:34089643}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (By similarity). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Essential for mechanoelectrical transduction (MET) currents in auditory hair cells and thereby required for hearing (By similarity). Regulates the function of hair cell mechanotransduction by controlling the distribution of transmembrane channel-like proteins TMC1 and TMC2, and by regulating the function of the MET channels in hair cells (By similarity). Required for the maintenance of auditory hair cell stereocilia bundle morphology and function and for hair-cell survival in the cochlea (By similarity). Critical for proper photoreceptor cell maintenance and function (By similarity). Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422). {ECO:0000250|UniProtKB:Q9Z309, ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422}.
uniprot
proteins
mass_dalton
21644
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
22779914
uniprot
proteins
pubmed
23023331
uniprot
proteins
pubmed
26173970
uniprot
proteins
pubmed
26416264
uniprot
proteins
pubmed
26426422
uniprot
proteins
pubmed
28663585
uniprot
proteins
pubmed
29084757
uniprot
proteins
pubmed
31636333
uniprot
proteins
pubmed
34089643
uniprot
proteins
pubmed
40858907
uniprot
proteins
pubmed
9931475
uniprot
proteins
sequence_length
187
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Z309}. Cell projection, stereocilium {ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q9Z309}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q9Z309}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q9Z309}. Note=Colocalizes with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). Located mainly in stereocilia and at the apical surface of hair cells of the cochlea (By similarity). Localizes in the cuticular plate along and at the tip of the stereocilia of vestibular sensory hair cells (PubMed:26173970, PubMed:26426422). {ECO:0000250|UniProtKB:Q9Z309, ECO:0000269|PubMed:26173970, ECO:0000269|PubMed:26426422}.
uniprot
proteins