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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:0050534 | congenital stationary night blindness | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050795 | cone dystrophy | |
| DOID:0060224 | atrial fibrillation | |
| DOID:0081023 | retinal cone dystrophy 4 | |
| DOID:0110870 | congenital stationary night blindness 1A | |
| DOID:0111005 | cone-rod dystrophy 2 | |
| DOID:10141 | obsolete asthenopia | |
| DOID:10930 | borderline personality disorder | |
| DOID:11661 | blue color blindness |
- 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 |
|---|---|---|---|
| 116442697 | CORMO20861 |
