Cib2 Gene Summary [Mouse]
Enables calcium ion binding activity and integrin binding activity. Involved in calcium ion homeostasis and photoreceptor cell maintenance. Located in several cellular components, including muscle tendon junction; photoreceptor inner segment; and sarcolemma. Is expressed in several structures, including brain; gut; inner ear; integumental system; and skeletal musculature. Used to study autosomal recessive nonsyndromic deafness 48. Human ortholog(s) of this gene implicated in Usher syndrome type 1J and autosomal recessive nonsyndromic deafness 48. Orthologous to human CIB2 (calcium and integrin binding family member 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cib2 |
| Official Name | calcium and integrin binding family member 2 [Source:MGI Symbol;Acc:MGI:1929293] |
| Ensembl ID | ENSMUSG00000037493 |
| Bio databases IDs | |
| Aliases | calcium and integrin binding family member 2 |
| Synonyms | 2810434I23Rik, calcium and integrin binding family member 2, Calcium-binding protein kip2, DFNB48, KIP 2, USH1J |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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