calcium voltage-gated channel auxiliary subunit alpha2delta 4

Summary
Gene Symbol
  • CACNA2D4
Aliases
  • alpha2delta-4
Organism
Homo sapiens (human)
External Links
NCBI Gene
93589
HGNC
20202
KEGG Gene ID
hsa:93589
PubChem
93589
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Calcium channel
  • Disulfide bond
  • Glycoprotein
  • Metal-binding
  • Reference proteome
  • Signal
  • Transmembrane helix
  • Voltage-gated channel
Proteins
Displaying 1 entry
UniProt Protein Name
Q7Z3S7
  • Voltage-gated calcium channel subunit alpha-2/delta-4
Gene Ontology (GO)
GO Hierarchy
Displaying all 2 entries
GO Term Evidence Code PMID
voltage-gated calcium channel activity
metal ion binding
GO Hierarchy
KEGG BRITE Database
Orthology
K04861
Name
voltage-dependent calcium channel alpha-2/delta-4
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 35 in total
DO ID Disease Name Source
DOID:1936 atherosclerosis
DOID:2348 arteriosclerotic cardiovascular disease
DOID:2349 arteriosclerosis
DOID:2468 psychotic disorder
DOID:5162 arteriolosclerosis
DOID:526 human immunodeficiency virus infectious disease
DOID:539 ophthalmoplegia
DOID:540 strabismus
DOID:5614 eye disease
DOID:635 acquired immunodeficiency syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 15 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000486 Strabismus
HP:0000505 Visual impairment
HP:0000540 Hypermetropia
HP:0000545 Myopia
HP:0000548 Cone/cone-rod dystrophy
HP:0000551 Color vision defect
HP:0000613 Photophobia
HP:0000639 Nystagmus
HP:0000662 Nyctalopia
Displaying all 3 entries
Disease ID Disease Name
ORPHA:215
  • X-linked congenital stationary night blindness
  • congenital stationary night blindness
OMIM:610478
  • retinal cone dystrophy 4
ORPHA:1872
  • X-linked cone-rod dystrophy 1
  • cone-rod dystrophy

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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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