CIB2

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).

Involvement in disease

Deafness, autosomal recessive, 48

DFNB48

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Usher syndrome 1J

USH1J

USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Widely expressed (PubMed:23023331).

Cellular localization

• Cytoplasm
• Cell projection
• Stereocilium
• Photoreceptor inner segment
• Cell projection
• Cilium
• Photoreceptor outer segment
• Cell membrane
• Sarcolemma
• 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).

Alternative names

KIP2, CIB2, Calcium and integrin-binding family member 2, Kinase-interacting protein 2, KIP 2

Database links

swissprot:O75838 entrezGene:10518 swissprot:Q05BT6 omim:605564