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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
calcium voltage-gated channel auxiliary subunit alpha2delta 4
Summary
- Gene Symbol
-
- CACNA2D4
- Aliases
-
- alpha2delta-4
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium channel
- Disulfide bond
- Glycoprotein
- Metal-binding
- Reference proteome
- Signal
- Transmembrane helix
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| Q7Z3S7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| detection of light stimulus involved in visual perception | ||
| calcium ion transmembrane transport |
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity | ||
| metal ion binding |
GO Hierarchy
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:12401 | intermittent explosive disorder | |
| DOID:13174 | dissociated nystagmus | |
| DOID:13399 | color blindness | |
| DOID:13909 | red-green color blindness | |
| DOID:13910 | red color blindness | |
| DOID:13911 | achromatopsia | |
| DOID:13912 | acquired color blindness | |
| DOID:1432 | blindness | |
| DOID:150 | disease of mental health |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000540 | Hypermetropia |
| HP:0000545 | Myopia |
| HP:0000548 | Cone/cone-rod dystrophy |
| HP:0000551 | Color vision defect |
| HP:0000613 | Photophobia |
| HP:0000639 | Nystagmus |
| HP:0000662 | Nyctalopia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:215 |
|
| OMIM:610478 |
|
| ORPHA:1872 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 176155 | WB:WBGene00006772 | ||
| 34951 | FB:FBgn0261999 | ||
| 100150428 | ZFIN:ZDB-GENE-100422-18 | DANRE27759 | |
| 103042404 | ASTMX08330 | ||
| 108268693 | ICTPU34297 | ||
| 105023094 | ESOLU54634 | ||
| 105031141 | ESOLU58183 | ||
| 106561009 | SALSA11774 | ||
| 106584529 | SALSA85800 | ||
| 115192701 | SALTR30183 |
