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Title: Cacnb2  
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Subject: Channelopathy, Erythrokeratodermia variabilis, Clouston's hidrotic ectodermal dysplasia, Progressive symmetric erythrokeratodermia, GJB4
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Calcium channel, voltage-dependent, beta 2 subunit

PDB rendering based on 1t0h.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols  ; CACNLB2; CAVB2; MYSB
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.[1][2][3]

Clinical significance

Mutation in the CACNB2 gene are associated with Brugada syndrome, autism, attention deficit-hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder, and schizophrenia.[4]

See also


  1. ^ Taviaux S, Williams ME, Harpold MM, Nargeot J, Lory P (Sep 1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23". Hum Genet 100 (2): 151–4.  
  2. ^ Rosenfeld MR, Wong E, Dalmau J, Manley G, Posner JB, Sher E, Furneaux HM (Jun 1993). "Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen". Ann Neurol 33 (1): 113–20.  
  3. ^ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit". 
  4. ^ "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet 381 (9875): 1371–9. 2013.  

Further reading

External links

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