Cib2
entrez
56506
canonical
uniprot
Q9Z309
canonical
ensembl
ENSMUSG00000037493
resolver
ensp
ENSMUSP00000038527
resolver
enst
ENSMUST00000041901
resolver
genesymbol
Cib2
resolver
genesymbol_syn
Kip2
resolver
uniprot
Q544Z8
resolver
uniprot_entry
CIB2_MOUSE
resolver
uniprot_entry
Q544Z8_MOUSE
resolver
amino_acid_sequence
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHARFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVEAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLEMTLARLTKSELEEDEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI
uniprot
proteins
function
FUNCTION: Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (PubMed:23023331, PubMed:28663585, PubMed:29084757, PubMed:29255404, PubMed:34089643). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (PubMed:34089643). Essential for mechanoelectrical transduction (MET) currents in auditory hair cells and thereby required for hearing (PubMed:28663585, PubMed:29084757, PubMed:29255404). 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 (PubMed:34089643). Required for the maintenance of auditory hair cell stereocilia bundle morphology and function and for hair-cell survival in the cochlea (PubMed:28663585, PubMed:29084757, PubMed:29255404). Critical for proper photoreceptor cell maintenance and function (PubMed:23023331). Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331). Seems to be dispensable for vestibular functions (PubMed:29084757). {ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:28663585, ECO:0000269|PubMed:29084757, ECO:0000269|PubMed:29255404, ECO:0000269|PubMed:34089643}.
uniprot
proteins
mass_dalton
21704
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="E->D: Causes deafness; decreases interaction with TMC1 and TMC2; reduces MET currents."; /evidence="ECO:0000269|PubMed:34089643"; MUTAGEN 68; /note="N->Q: Disrupts interaction with TMC1. Disrupts mechanoelectrical transduction (MET) in hair cells."; /evidence="ECO:0000269|PubMed:34089643"; MUTAGEN 91; /note="F->S: Causes profound deafness. Does not disrupt localization in hair cell stereocilia. No obvious indications of vestibular dysfunction."; /evidence="ECO:0000269|PubMed:28663585"; MUTAGEN 114; /note="I->F: Weakens interaction with TMC1."; /evidence="ECO:0000269|PubMed:34089643"; MUTAGEN 123; /note="I->T: Causes deafness; disrupts interaction with TMC1 and TMC2; abolishes MET currents; abolishes localization of TMC1 and TMC2 to stereocilia."; /evidence="ECO:0000269|PubMed:34089643"; MUTAGEN 140; /note="L->R: Disrupts interaction with TMC1."; /evidence="ECO:0000269|PubMed:34089643"; MUTAGEN 152; /note="V->F: Disrupts interaction with TMC1. Disrupts mechanoelectrical transduction (MET) in hair cells."; /evidence="ECO:0000269|PubMed:34089643"; MUTAGEN 186; /note="R->W: Causes deafness; decreases interaction with TMC1 and TMC2; abolishes localization of TMC1 to stereocilia; reduces localization of TMC2 to stereocilia; reduces calcium permeability and conductance of MET channels in hair cells."; /evidence="ECO:0000269|PubMed:34089643
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18611855
uniprot
proteins
pubmed
18989529
uniprot
proteins
pubmed
23023331
uniprot
proteins
pubmed
28663585
uniprot
proteins
pubmed
29084757
uniprot
proteins
pubmed
29255404
uniprot
proteins
pubmed
34089643
uniprot
proteins
pubmed
38228630
uniprot
proteins
pubmed
9931475
uniprot
proteins
sequence_length
187
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23023331}. Cell projection, stereocilium {ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:29084757}. Photoreceptor inner segment {ECO:0000269|PubMed:23023331}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:23023331}. Cell membrane, sarcolemma {ECO:0000269|PubMed:18611855}. Note=Colocalizes with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (PubMed:18611855). Located mainly in stereocilia and at the apical surface of hair cells of the cochlea (PubMed:29084757). Localizes in the cuticular plate along and at the tip of the stereocilia of vestibular sensory hair cells (By similarity). {ECO:0000250|UniProtKB:O75838, ECO:0000269|PubMed:18611855, ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:29084757}.
uniprot
proteins