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Standards Ontologies Notations
calcium voltage-gated channel auxiliary subunit alpha2delta 2

Summary
Gene Symbol
  • CACNA2D2
Aliases
  • KIAA0558
  • alpha2delta-2
  • gene 26
Organism
Homo sapiens (human)
External Links
NCBI Gene
9254
HGNC
1400
KEGG Gene ID
hsa:9254
PubChem
9254
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium channel
  • Disease variant
  • Disulfide bond
  • Epilepsy
  • Glycoprotein
  • Metal-binding
  • Reference proteome
  • Signal
  • Transmembrane helix
  • Voltage-gated channel
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NY47
  • Voltage-gated calcium channel subunit alpha-2/delta-2
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 6 - 7 of 7 in total
GO Term Evidence Code PMID
regulation of multicellular organism growth
positive regulation of organ growth
GO Hierarchy
Displaying all 2 entries
GO Term Evidence Code PMID
voltage-gated calcium channel activity
metal ion binding
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
KEGG BRITE Database
Orthology
K04859
Name
voltage-dependent calcium channel alpha-2/delta-2
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 50 in total
DO ID Disease Name Source
DOID:3683 lung benign neoplasm
DOID:3702 cervical adenocarcinoma
DOID:3904 bronchus carcinoma
DOID:3905 lung carcinoma
DOID:3908 lung non-small cell carcinoma
DOID:4090 agnosia
DOID:4362 cervical cancer
DOID:4766 embryoma
DOID:539 ophthalmoplegia
DOID:540 strabismus
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
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
Displaying 1 entry
Disease ID Disease Name
OMIM:618501
  • cerebellar atrophy with seizures and variable developmental delay
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 61 - 65 of 65 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
105827606 PROCO00343
109091194 CYPCA57038
103750148 NANGA13985
116449349 CORMO01574
115614605 STRHB20488
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024