CACNB2

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CACNB2
Protein CACNB2 PDB 1t0h.png
Identifiers
AliasesCACNB2, CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2
External IDsOMIM: 600003 MGI: 894644 HomoloGene: 75191 GeneCards: CACNB2
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for CACNB2
Genomic location for CACNB2
Band10p12.33-p12.31Start18,140,677 bp[1]
End18,543,557 bp[1]
RNA expression pattern
PBB GE CACNB2 207776 s at fs.png

PBB GE CACNB2 213714 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252533
NM_023116
NM_001309519

RefSeq (protein)

NP_001239462
NP_001296448
NP_075605

Location (UCSC)Chr 10: 18.14 – 18.54 MbChr 2: 14.6 – 14.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene.[5][6][7]


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.[8]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165995 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057914 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
  8. ^ "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.

Further reading[edit]

External links[edit]