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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
calcium voltage-gated channel auxiliary subunit alpha2delta 1
Summary
- Gene Symbol
-
- CACNA2D1
- Aliases
-
- alpha2delta-1
- lncRNA-N3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium channel
- Cell membrane
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Intellectual disability
- Metal-binding
- Phosphoprotein
- Proteomics identification
- Receptor
- Reference proteome
- Signal
- Transmembrane helix
- Voltage-gated channel
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| regulation of heart rate by cardiac conduction | ||
| calcium ion transport | ||
| regulation of ventricular cardiac muscle cell membrane repolarization | ||
| cellular response to amyloid-beta | ||
| calcium ion import across plasma membrane |
GO Hierarchy
biological process
cellular process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of transmembrane transporter activity [inference]
positive regulation of transmembrane transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
regulation of metal ion transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
positive regulation of transport [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
regulation of transmembrane transport [inference]
regulation of transmembrane transporter activity [inference]
positive regulation of transmembrane transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
regulation of biological quality [inference]
regulation of molecular function [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| L-type voltage-gated calcium channel complex | ||
| neuronal dense core vesicle | ||
| voltage-gated calcium channel complex | ||
| plasma membrane | ||
| sarcoplasmic reticulum |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050451 | Brugada syndrome | |
| DOID:0050562 | West syndrome | |
| DOID:0050793 | short QT syndrome | |
| DOID:0050820 | atrioventricular block | |
| DOID:0060224 | atrial fibrillation | |
| DOID:0060250 | idiopathic scoliosis | |
| DOID:0060319 | cardiac arrest | |
| DOID:0070395 | developmental and epileptic encephalopathy 110 | |
| DOID:0110066 | amelogenesis imperfecta type 1G | |
| DOID:0110218 | Brugada syndrome 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000341 | Narrow forehead |
| HP:0000348 | High forehead |
| HP:0000369 | Low-set ears |
| HP:0000400 | Macrotia |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:51083 |
|
| OMIM:620149 |
|
| ORPHA:442835 |
|
| ORPHA:130 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174730 | WB:WBGene00007041 | ||
| 176155 | WB:WBGene00006772 | ||
| 100186976 | CIOIN07698 | ||
| 561434 | ZFIN:ZDB-GENE-041210-215 | ||
| 106561208 | SALSA50986 | ||
| 106573448 | SALSA47924 | ||
| 113026874 | ASTCA38473 | ||
| 108711204 | Xenbase:XB-GENE-6488701 | ||
| 108713061 | Xenbase:XB-GENE-17341694 | ||
| 100036724 | Xenbase:XB-GENE-964524 |
