calcium voltage-gated channel auxiliary subunit alpha2delta 2
| UniProt | Protein Name |
|---|---|
| Q9NY47 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| neuromuscular junction development | ||
| organ growth | ||
| regulation of multicellular organism growth | ||
| positive regulation of organ growth | ||
| muscle cell development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| voltage-gated calcium channel complex | ||
| presynaptic active zone membrane | ||
| GABA-ergic synapse |
| GO Term | Evidence Code | PMID |
|---|---|---|
| voltage-gated calcium channel activity | ||
| metal ion binding |
| Gene Ontology |
|---|
| calcium channel activity |
| calcium ion transmembrane transport |
| monoatomic ion transport |
| 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 |
|
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 115557650 | GADMO08595 | ||
| 115583420 | SPAAU40943 | ||
| 115614605 | STRHB20488 | ||
| 116449349 | CORMO01574 | ||
| 117037054 | RHIFE16748 | ||
| 118904549 | BALMU26348 | ||
| 122214389 | PANLE23294 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025