CACNB2

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Calcium channel, voltage-dependent, beta 2 subunit
Protein CACNB2 PDB 1t0h.png
PDB rendering based on 1t0h.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CACNB2 ; CACNLB2; CAVB2; MYSB
External IDs OMIM600003 MGI894644 HomoloGene75191 GeneCards: CACNB2 Gene
RNA expression pattern
PBB GE CACNB2 207776 s at tn.png
PBB GE CACNB2 213714 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 783 12296
Ensembl ENSG00000165995 ENSMUSG00000057914
UniProt Q08289 Q8CC27
RefSeq (mRNA) NM_000724 NM_001252533
RefSeq (protein) NP_000715 NP_001239462
Location (UCSC) Chr 10:
18.43 – 18.83 Mb
Chr 2:
14.6 – 14.99 Mb
PubMed search [1] [2]

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[edit]

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[edit]

References[edit]

  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. doi:10.1007/PL00008704. PMID 9254841. 
  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. doi:10.1002/ana.410330126. PMID 8494331. 
  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. doi:10.1016/S0140-6736(12)62129-1. PMC 3714010. PMID 23453885.  edit

Further reading[edit]

External links[edit]