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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 |
|---|---|---|
| rhythmic synaptic transmission | ||
| organ growth | ||
| calcium ion transmembrane transport | ||
| muscle cell development | ||
| neuromuscular junction development |
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:0050635 | alternating hemiplegia of childhood | |
| DOID:0050639 | primary cutaneous amyloidosis | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0070309 | absence epilepsy | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080443 | developmental and epileptic encephalopathy 21 | |
| DOID:0080468 | developmental and epileptic encephalopathy 1 | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10283 | prostate cancer |
- 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 |
|---|---|---|---|
| 105827606 | PROCO00343 | ||
| 109091194 | CYPCA57038 | ||
| 103750148 | NANGA13985 | ||
| 116449349 | CORMO01574 | ||
| 115614605 | STRHB20488 |
