Seroatlas · Human Serome Atlas

CACNA2D1

Voltage-dependent calcium channel subunit alpha-2/delta-1

Also known as: alpha2delta-1, CA2D1_HUMAN, CACNA2, CACNL2A, LINC01112, lncRNA-N3, MHS3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P54289
Gene: CACNA2D1
Ensembl: ENSG00000153956
Chromosome: 7
Canonical length: 1103 aa
Protein class: FDA approved drug targets, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Secretome location: Intracellular and membrane

OverviewNCBI Gene

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

1103 residues, UniProt reviewed canonical sequence.

>P54289|CACNA2D1
     1  MAAGCLLALT LTLFQSLLIG PSSEEPFPSA VTIKSWVDKM QEDLVTLAKT ASGVNQLVDI
    61  YEKYQDLYTV EPNNARQLVE IAARDIEKLL SNRSKALVRL ALEAEKVQAA HQWREDFASN
   121  EVVYYNAKDD LDPEKNDSEP GSQRIKPVFI EDANFGRQIS YQHAAVHIPT DIYEGSTIVL
   181  NELNWTSALD EVFKKNREED PSLLWQVFGS ATGLARYYPA SPWVDNSRTP NKIDLYDVRR
   241  RPWYIQGAAS PKDMLILVDV SGSVSGLTLK LIRTSVSEML ETLSDDDFVN VASFNSNAQD
   301  VSCFQHLVQA NVRNKKVLKD AVNNITAKGI TDYKKGFSFA FEQLLNYNVS RANCNKIIML
   361  FTDGGEERAQ EIFNKYNKDK KVRVFTFSVG QHNYDRGPIQ WMACENKGYY YEIPSIGAIR
   421  INTQEYLDVL GRPMVLAGDK AKQVQWTNVY LDALELGLVI TGTLPVFNIT GQFENKTNLK
   481  NQLILGVMGV DVSLEDIKRL TPRFTLCPNG YYFAIDPNGY VLLHPNLQPK PIGVGIPTIN
   541  LRKRRPNIQN PKSQEPVTLD FLDAELENDI KVEIRNKMID GESGEKTFRT LVKSQDERYI
   601  DKGNRTYTWT PVNGTDYSLA LVLPTYSFYY IKAKLEETIT QARYSETLKP DNFEESGYTF
   661  IAPRDYCNDL KISDNNTEFL LNFNEFIDRK TPNNPSCNAD LINRVLLDAG FTNELVQNYW
   721  SKQKNIKGVK ARFVVTDGGI TRVYPKEAGE NWQENPETYE DSFYKRSLDN DNYVFTAPYF
   781  NKSGPGAYES GIMVSKAVEI YIQGKLLKPA VVGIKIDVNS WIENFTKTSI RDPCAGPVCD
   841  CKRNSDVMDC VILDDGGFLL MANHDDYTNQ IGRFFGEIDP SLMRHLVNIS VYAFNKSYDY
   901  QSVCEPGAAP KQGAGHRSAY VPSVADILQI GWWATAAAWS ILQQFLLSLT FPRLLEAVEM
   961  EDDDFTASLS KQSCITEQTQ YFFDNDSKSF SGVLDCGNCS RIFHGEKLMN TNLIFIMVES
  1021  KGTCPCDTRL LIQAEQTSDG PNPCDMVKQP RYRKGPDVCF DNNVLEDYTD CGGVSGLNPS
  1081  LWYIIGIQFL LLWLVSGSTH RLL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACNA2D1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 73 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 73 nTPM
tongue: 71 nTPM
heart muscle: 25 nTPM
cerebral cortex: 21 nTPM
thyroid gland: 14 nTPM
hypothalamus: 13 nTPM

Single-cell type

myonuclei: 3,245 nCPM
corticotrophs: 2,215 nCPM
thyrotrophs: 1,302 nCPM
adipocytes: 818 nCPM
brain excitatory neurons: 795 nCPM
lactotrophs: 787 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

hypothalamus: 94 nTPM
midbrain: 82 nTPM
hippocampal formation: 67 nTPM
cerebral cortex: 60 nTPM
white matter: 52 nTPM
basal ganglia: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACNA2D1.

Disease | AllUniProt

Conditions CACNA2D1 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 110 (DEE110) MIM:620149

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 1,131 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy 110

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.25
gnomAD pLI: 1
gnomAD missense Z: 3.49
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CACNA2D1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CACNA1C

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CACNA2D1 as an antibody target. Whether an autoantibody or antibody against CACNA2D1 could matter depends on whether native CACNA2D1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACNA2D1 is annotated at the cell surface, where native CACNA2D1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CACNA2D1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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