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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 |
|---|---|---|
| regulation of multicellular organism growth | ||
| positive regulation of organ growth |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel complex | ||
| plasma membrane |
|
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:1612 | breast cancer | |
| DOID:162 | cancer | |
| DOID:1825 | childhood absence epilepsy | |
| DOID:1826 | epilepsy | |
| DOID:1827 | idiopathic generalized epilepsy | |
| DOID:2786 | cerebellar disease | |
| DOID:2893 | cervix carcinoma | |
| DOID:331 | central nervous system disease | |
| DOID:3393 | coronary artery disease | |
| DOID:3459 | breast carcinoma |
- 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 | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 300992 | RGD:631360 | RATNO40276 | |
| 100734097 | CAVPO05090 | ||
| 101585381 | OCTDE02678 | ||
| 114024200 | VOMUR13891 | ||
| 113880995 | BOBOX08899 | ||
| 100965256 | OTOGA02970 | ||
| 101074206 | TAKRU22105 | ||
| 102007694 | CHILA22644 | ||
| 105727736 | AOTNA35792 | ||
| 110217120 | PHACI07895 |
