InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CIB2

Summary

InnateDB Protein

IDBP-24448.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CIB2

Protein Name

calcium and integrin binding family member 2

Synonyms

DFNB48; KIP2; USH1J;

Species

Homo sapiens

Ensembl Protein

ENSP00000258930

InnateDB Gene

IDBG-24446 (CIB2)

Protein Structure

UniProt Annotation

Function

Calcium-binding protein critical for proper photoreceptor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity). {ECO:0000250}.

Subcellular Localization

Photoreceptor inner segment {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000250}. Note=Expressed in inner and outer segments of photoreceptor cells, as well as in the pigmented epithelium. Also observed in the inner and outer plexiform layers and in the ganglion cell layer. Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). {ECO:0000250}.

Disease Associations

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:0000269PubMed:23023331}. Note=The disease is caused by mutations affecting the gene represented in this entry.Usher syndrome 1J (USH1J) [MIM:614869]: 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. {ECO:0000269PubMed:23023331}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0032403	protein complex binding

Biological Process

GO:0045494	photoreceptor cell maintenance
GO:0055074	calcium ion homeostasis

Cellular Component

GO:0001917	photoreceptor inner segment
GO:0005927	muscle tendon junction
GO:0031594	neuromuscular junction
GO:0042383	sarcolemma
GO:0072562	blood microparticle