Detailed information for CACNA2D4
Basic information
| Official symbol | CACNA2D4 |
|---|---|
| Official full name | calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
| Location | 12p13.33 |
| Gene type | protein-coding |
| Synonyms | RCD4 |
| Quick links | Entrez ID:93589; HGNC:20202; MIM:608171; Ensembl:ENSG00000151062; HPRD:12182; Vega:OTTHUMG00000168111 |
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 |
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 |
|---|---|---|---|---|---|---|---|
| chr12 | 1900122 | 2028870 | 610478 | Retinal cone dystrophy 4 | 3 | 608171 | 12p13.33 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr12 | 1900122 | 2028870 | 93589 | Cacna2d4 | MGI:2442632 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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