Previous symbols: MYSB, CACNLB2.
CACNB2 encodes the voltage-dependent L-type calcium channel subunit beta-2 (CaVbeta2), an essential cytosolic auxiliary subunit of high-voltage-activated Ca2+ channels. The protein contains a conserved SH3-HOOK-guanylate kinase (GK) module that binds the alpha-interaction domain (AID) in the I-II linker of the pore-forming alpha1 subunit with nanomolar affinity. CaVbeta2 promotes proper channel trafficking to the plasma membrane and modulates voltage-dependent activation/inactivation kinetics of CaV1.x/CaV2.x channels. Multiple splice variants (beta2a-beta2e) differ in their N-termini, with beta2a being palmitoylated for membrane anchoring and beta2e capable of nuclear translocation. CaVbeta2 also mediates beta-adrenergic regulation of cardiac L-type channels through interaction with the RGK GTPase Rad.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Brugada syndrome | disputed | |
| Short QT Syndrome |
untyped
Causative
|
mechanism: Ion-channel gain- and loss-of-function variants
subtype: SQTS5
scoped to subtype: SQTS5
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| cardiogenetic disease MONDO:0100547 | AD | Disputed 2025-07-22 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.