CIB2 Gene Summary [Human]
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | CIB2 |
| Official Name | calcium and integrin binding family member 2 [Source:HGNC Symbol;Acc:HGNC:24579] |
| Ensembl ID | ENSG00000136425 |
| Bio databases IDs | |
| Aliases | calcium and integrin binding family member 2, kinase interacting protein 2 |
| Synonyms | 2810434I23Rik, calcium and integrin binding family member 2, Calcium-binding protein kip2, DFNB48, KIP 2, USH1J |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CIB2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- binding protein
- EF-hand domain pair
- integrin binding
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- calcium ion binding
- protein homodimerization
- EFh
- protein binding
- magnesium ion binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness type 48
- suicide attempt
- autosomal recessive deafness
- Usher syndrome type 1J
- familial nonsyndromic hearing impairment
- hearing loss
- retinal dystrophy
- Usher syndrome type 1
- infection by Dengue virus 2
- productive infection by HIV-1
role in cell
- dysfunction
- response by
- Clathrin mediated endocytosis by
- mechanotransduction
- maintenance
- abnormal morphology
- elevation in
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- cytosol
- stereocilia
- neuromuscular junctions
- photoreceptor outer segments
- photoreceptor inner segments
- cuticular plate
- sarcolemma
- cell-matrix adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CIB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion homeostasis
- photoreceptor cell maintenance
- cellular response to ATP
- elevation of cytosolic calcium ion concentration
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- sarcolemma
- muscle tendon junction
- blood microparticle
- neuromuscular junction
- stereocilium
- photoreceptor inner segment
- cuticular plate
- cell periphery
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- protein homodimerization activity
- protein binding
- calcium ion binding
- integrin binding