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MIRAGE
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 |
|---|---|---|
| calcium ion transport | ||
| regulation of calcium ion transport | ||
| regulation of ventricular cardiac muscle cell membrane repolarization | ||
| calcium ion transport into cytosol | ||
| calcium ion transmembrane transport via high voltage-gated calcium channel |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| voltage-gated calcium channel complex | ||
| sarcoplasmic reticulum | ||
| presynaptic active zone membrane | ||
| extracellular exosome |
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity | ||
| voltage-gated calcium channel activity | ||
| voltage-gated calcium channel activity | ||
| metal ion binding | ||
| voltage-gated calcium channel activity involved in cardiac muscle cell action potential |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- voltage-dependent calcium channel
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| calcium channel activity |
| calcium ion transmembrane transport |
| monoatomic ion transport |
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:0070395 | developmental and epileptic encephalopathy 110 |
- 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 |
|---|---|
| OMIM:620149 |
|
| ORPHA:442835 |
|
| ORPHA:51083 |
|
| ORPHA:130 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 781 | Xenbase:XB-GENE-964524 | ||
| 9254 | WB:WBGene00007041 | ||
| 12293 | Xenbase:XB-GENE-964524 | MOUSE44691 | |
| 12294 | WB:WBGene00006772 | ||
| 25399 | RATNO30196 | ||
| 55799 | WB:WBGene00006772 | ||
| 56808 | WB:WBGene00006772 | ||
| 93589 | WB:WBGene00006772 | ||
| 176155 | ZFIN:ZDB-GENE-041210-215 | ||
| 282608 | BOVIN27849 |
