CACNB2

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CACNB2
Protein CACNB2 PDB 1t0h.png
Identifiers
Aliases CACNB2, CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2
External IDs MGI: 894644 HomoloGene: 75191 GeneCards: CACNB2
Genetically Related Diseases
obesity, hypertension[1]
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
Ensembl
UniProt
RefSeq (mRNA)

NM_001252533
NM_023116
NM_001309519

RefSeq (protein)

NP_001296448.1
NP_075605.1

Location (UCSC) Chr 10: 18.14 – 18.54 Mb Chr 2: 14.6 – 14.99 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.[4][5][6]


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.[7]

See also[edit]

References[edit]

  1. ^ "Diseases that are genetically associated with CACNB2 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit". 
  7. ^ "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 3714010Freely accessible. PMID 23453885. 

Further reading[edit]

External links[edit]