CACNB2

Last updated
CACNB2
Protein CACNB2 PDB 1t0h.png
Identifiers
Aliases CACNB2 , CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2, CAB2
External IDs OMIM: 600003; MGI: 894644; HomoloGene: 75191; GeneCards: CACNB2; OMA:CACNB2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252533
NM_023116
NM_001309519

RefSeq (protein)
Location (UCSC) Chr 10: 18.14 – 18.54 Mb Chr 2: 14.61 – 14.99 Mb
PubMed search [3] [4]
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. [5] [6] [7]

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. [8]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165995 Ensembl, May 2017
  2. 1 2 3 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. S2CID   5689556.
  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. S2CID   24241609.
  7. "Entrez Gene: CACNB2 calcium channel, voltage-dependent, beta 2 subunit".
  8. Cross-Disorder Group of the Psychiatric Genomics Consortium (2013). "Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis". The Lancet. 381 (9875): 1371–9. doi:10.1016/S0140-6736(12)62129-1. PMC   3714010 . PMID   23453885.

Further reading