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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:3683 | lung benign neoplasm | |
| DOID:3702 | cervical adenocarcinoma | |
| DOID:3904 | bronchus carcinoma | |
| DOID:3905 | lung carcinoma | |
| DOID:3908 | lung non-small cell carcinoma | |
| DOID:4090 | agnosia | |
| DOID:4362 | cervical cancer | |
| DOID:4766 | embryoma | |
| DOID:539 | ophthalmoplegia | |
| DOID:540 | strabismus |
- 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 |
|---|---|---|---|
| 174730 | WB:WBGene00007041 | ||
| 176155 | WB:WBGene00006772 | ||
| 100186976 | CIOIN07698 | ||
| 541376 | ZFIN:ZDB-GENE-050320-71 | ||
| 568759 | ZFIN:ZDB-GENE-060503-99 | ||
| 108271986 | ICTPU02884 | ||
| 115150944 | SALTR34604 | ||
| 115207482 | SALTR37333 | ||
| 115557650 | GADMO08595 | ||
| 102079371 | ORENI56810 |
