Disease-gene associations mined from literature

Literature associating CIB2 and autosomal recessive nonsyndromic deafness 57

CIB2 [ENSP00000258930]

Calcium and integrin binding family member 2; Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release. May be involved in the mechanotransduction process (By similarity); Deafness associated genes

Synonyms:  CIB2,  CIB2p,  hCIB2,  H0YKC8,  H0YKX8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM