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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
calcium voltage-gated channel auxiliary subunit alpha2delta 2
Summary
- Gene Symbol
-
- CACNA2D2
- Aliases
-
- KIAA0558
- alpha2delta-2
- gene 26
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium channel
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Metal-binding
- Reference proteome
- Signal
- Transmembrane helix
- Voltage-gated channel
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NY47 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| organ growth | ||
| regulation of multicellular organism growth | ||
| muscle cell development | ||
| regulation of neurotransmitter receptor localization to postsynaptic specialization membrane | ||
| calcium ion transmembrane transport |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel complex | ||
| plasma membrane | ||
| presynaptic active zone membrane | ||
| GABA-ergic synapse |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| metal ion binding | ||
| voltage-gated calcium channel activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Voltage dependent calcium channel subunit
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium channel activity |
| calcium ion transmembrane transport |
| monoatomic ion transport |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1826 | epilepsy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000639 | Nystagmus |
| HP:0000817 | Reduced eye contact |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001260 | Dysarthria |
| HP:0001290 | Generalized hypotonia |
| HP:0001310 | Dysmetria |
| Disease ID | Disease Name |
|---|---|
| OMIM:618501 |
|
PubChem Disease
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 56808 | MGI:1929813 | MOUSE61176 | ||
| 174730 | WB:WBGene00007041 | |||
| 176155 | WB:WBGene00006772 | |||
| 300992 | RGD:631360 | RATNO40276 | ||
| 460396 | 9598_0:0011a5 | PANTR31228 | ||
| 541376 | ZFIN:ZDB-GENE-050320-71 | |||
| 568759 | ZFIN:ZDB-GENE-060503-99 | |||
| 702429 | MACMU29810 | |||
| 100038148 | Xenbase:XB-GENE-854937 | |||
| 100061645 | HORSE11988 |
