Detailed information for CHM
Basic information
| Official symbol | CIB2 |
|---|---|
| Official full name | calcium and integrin binding family member 2 |
| Location | 15q24 |
| Gene type | protein-coding |
| Synonyms | DFNB48|KIP2|USH1J |
| Quick links | Entrez ID:10518; HGNC:24579; MIM:605564; Ensembl:ENSG00000136425; HPRD:05713; Vega:OTTHUMG00000143731 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005509 | calcium ion binding | 668 | 17 | 7.43 | 2.29 | 0.0013 | 0.0157 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr15 | 78395947 | 78424877 | 609439 | "Deafness, autosomal recessive 48" | 3 | 605564 | 15q25.1 |
| chr15 | 78395947 | 78424877 | 614869 | "Usher syndrome, type IJ" | 3 | 605564 | 15q25.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr15 | 78395947 | 78424877 | 10518 | Cib2 | MGI:1929293 | - | - |
Mutation spectrum
If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.
Gene-disease network
If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.
Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.