Seroatlas · Human Serome Atlas

CACNB2

Voltage-dependent L-type calcium channel subunit beta-2

Also known as: CACB2_HUMAN, CACNLB2, MYSB

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

Protein identityUniProt · HPA

UniProt accession
Q08289
Gene
CACNB2
Ensembl
ENSG00000165995
Chromosome
10
Canonical length
660 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

Canonical amino-acid sequenceUniProt

660 residues, UniProt reviewed canonical sequence.

>Q08289|CACNB2
     1  MVQRDMSKSP PTAAAAVAQE IQMELLENVA PAGALGAAAQ SYGKGARRKN RFKGSDGSTS
    61  SDTTSNSFVR QGSADSYTSR PSDSDVSLEE DREAVRREAE RQAQAQLEKA KTKPVAFAVR
   121  TNVSYSAAHE DDVPVPGMAI SFEAKDFLHV KEKFNNDWWI GRLVKEGCEI GFIPSPVKLE
   181  NMRLQHEQRA KQGKFYSSKS GGNSSSSLGD IVPSSRKSTP PSSAIDIDAT GLDAEENDIP
   241  ANHRSPKPSA NSVTSPHSKE KRMPFFKKTE HTPPYDVVPS MRPVVLVGPS LKGYEVTDMM
   301  QKALFDFLKH RFEGRISITR VTADISLAKR SVLNNPSKHA IIERSNTRSS LAEVQSEIER
   361  IFELARTLQL VVLDADTINH PAQLSKTSLA PIIVYVKISS PKVLQRLIKS RGKSQAKHLN
   421  VQMVAADKLA QCPPELFDVI LDENQLEDAC EHLADYLEAY WKATHPPSSS LPNPLLSRTL
   481  ATSSLPLSPT LASNSQGSQG DQRTDRSAPI RSASQAEEEP SVEPVKKSQH RSSSSAPHHN
   541  HRSGTSRGLS RQETFDSETQ ESRDSAYVEP KEDYSHDHVD HYASHRDHNH RDETHGSSDH
   601  RHRESRHRSR DVDREQDHNE CNKQRSRHKS KDRYCEKDGE VISKKRNEAG EWNRDVYIRQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACNB2 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)
0.5
Highest tissue expression
20 nTPM

Expression across tissuesHPA

Tissue

  • retina: 20 nTPM
  • heart muscle: 8.7 nTPM
  • cerebral cortex: 8.2 nTPM
  • urinary bladder: 7.9 nTPM
  • cerebellum: 7.3 nTPM
  • seminal vesicle: 7 nTPM

Single-cell type

  • retinal pigment epithelial cells: 2,600 nCPM
  • rod photoreceptor cells: 2,326 nCPM
  • cone photoreceptor cells: 1,931 nCPM
  • cardiomyocytes: 1,930 nCPM
  • somatotrophs: 1,708 nCPM
  • gonadotrophs: 1,644 nCPM

Immune cell

  • basophil: 1.1 nTPM
  • T-reg: 0.7 nTPM
  • naive CD8 T-cell: 0.6 nTPM
  • naive B-cell: 0.4 nTPM
  • naive CD4 T-cell: 0.4 nTPM
  • MAIT T-cell: 0.3 nTPM

Brain region

  • cerebral cortex: 56 nTPM
  • hypothalamus: 47 nTPM
  • hippocampal formation: 41 nTPM
  • cerebellum: 38 nTPM
  • basal ganglia: 38 nTPM
  • thalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACNB2.

Disease | AllUniProt

Conditions CACNB2 is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 1,136 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Brugada syndrome 4

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)
0.69
gnomAD pLI
0
gnomAD missense Z
0.07
DepMap mean gene effect
0.05
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 CACNB2 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 CACNB2 as an antibody target. Whether an autoantibody or antibody against CACNB2 could matter depends on whether native CACNB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACNB2 is annotated at the cell surface, where native CACNB2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

  • The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder.

Canonical record: https://seroatlas.com/gene/CACNB2. 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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