Seroatlas · Human Serome Atlas

CACNB4

Voltage-dependent L-type calcium channel subunit beta-4

Also known as: CACB4_HUMAN, EJM4

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

Protein identityUniProt · HPA

UniProt accession
O00305
Gene
CACNB4
Ensembl
ENSG00000182389
Chromosome
2
Canonical length
520 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

520 residues, UniProt reviewed canonical sequence.

>O00305|CACNB4
     1  MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG SADSYTSRPS
    61  DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN VSYCGALDED VPVPSTAISF
   121  DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF IPSPLRLENI RIQQEQKRGR FHGGKSSGNS
   181  SSSLGEMVSG TFRATPTSTA KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK
   241  ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF
   301  ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG KSQSKHLNVQ
   361  LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR ATHTTSSTPM TPLLGRNLGS
   421  TALSPYPTAI SGLQSQRMRH SNHSTENSPI ERRSLMTSDE NYHNERARKS RNRLSSSSQH
   481  SRDHYPLVEE DYPDSYQDTY KPHRNRGSPG GYSHDSRHRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACNB4 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
0
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 25 nTPM
  • cerebral cortex: 17 nTPM
  • basal ganglia: 13 nTPM
  • skin: 6.9 nTPM
  • amygdala: 4.4 nTPM
  • hypothalamus: 4.1 nTPM

Single-cell type

  • sertoli cells: 868 nCPM
  • distal convoluted tubule cells: 624 nCPM
  • choroid plexus epithelial cells: 436 nCPM
  • retinal pigment epithelial cells: 294 nCPM
  • medullary thymic epithelial cells: 286 nCPM
  • renal connecting tubule cells: 267 nCPM

Immune cell

  • neutrophil: 3.4 nTPM
  • basophil: 0.7 nTPM
  • myeloid DC: 0.6 nTPM
  • plasmacytoid DC: 0.6 nTPM
  • classical monocyte: 0.2 nTPM
  • naive B-cell: 0.1 nTPM

Brain region

  • cerebral cortex: 51 nTPM
  • cerebellum: 50 nTPM
  • basal ganglia: 41 nTPM
  • thalamus: 31 nTPM
  • white matter: 30 nTPM
  • midbrain: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACNB4.

Disease | AllUniProt

Conditions CACNB4 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 321 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.49
gnomAD pLI
0.03
gnomAD missense Z
2.7
DepMap mean gene effect
0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 CACNB4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CACNB4 as an antibody target. Whether an autoantibody or antibody against CACNB4 could matter depends on whether native CACNB4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACNB4 is annotated at the cell surface, where native CACNB4 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 CACNB4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CACNB4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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