Gene
cib2
- ID
- ZDB-GENE-040426-1663
- Name
- calcium and integrin binding family member 2
- Symbol
- cib2 Nomenclature History
- Previous Names
-
- zgc:73079
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity and magnesium ion binding activity. Acts upstream of or within camera-type eye development; mechanosensory behavior; and neuromast development. Predicted to be active in cell periphery; cytoplasm; and stereocilium. Is expressed in central nervous system and cranial ganglion. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73079 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Riazuddin et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 48 | Alliance | Deafness, autosomal recessive 48 | 609439 |
| Usher syndrome type 1J | Alliance | Usher syndrome, type IJ | 614869 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Calcium and Integrin-Binding | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair |
|---|---|---|---|---|---|
|
UniProtKB:Q6PC72
|
187 |
Interactions and Pathways
No data available
Plasmids
No data available