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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: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:0001344 | Absent speech |
| HP:0001999 | Abnormal facial shape |
| HP:0002066 | Gait ataxia |
| HP:0002072 | Chorea |
| HP:0002540 | Inability to walk |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0008936 | Axial hypotonia |
| HP:0012736 | Profound global developmental delay |
| Disease ID | Disease Name |
|---|---|
| OMIM:618501 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 115583420 | SPAAU40943 | ||
| 108714609 | Xenbase:XB-GENE-17339148 | ||
| 108715833 | Xenbase:XB-GENE-6488677 | ||
| 100038148 | Xenbase:XB-GENE-854937 | ||
| 113453910 | PSETE02748 | ||
| 100543169 | MELGA03696 | ||
| 103817134 | SERCA11223 | ||
| 100918097 | SARHA15064 | ||
| 100408470 | CALJA12344 | ||
| 105573729 | CERAT32446 |
