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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:10286 | prostate carcinoma | |
| DOID:11504 | autonomic neuropathy | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:12859 | choreatic disease | |
| DOID:13174 | dissociated nystagmus | |
| DOID:1319 | brain cancer | |
| DOID:1324 | lung cancer | |
| DOID:1325 | bronchus cancer | |
| DOID:13884 | sick sinus syndrome | |
| DOID:14042 | bipolar I disorder |
- 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 |
|---|---|---|---|
| 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 |
