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CALM2

From Wikipedia, the free encyclopedia

CALM2
Identifiers
AliasesCALM2, CAMII, PHKD, PHKD2, LQT15, caM, calmodulin 2 (phosphorylase kinase, delta), calmodulin 2, CAMC, CAM1, CAMIII, CAM3, CALM, CALML2
External IDsOMIM: 114182; HomoloGene: 134804; GeneCards: CALM2; OMA:CALM2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001305624
NM_001305625
NM_001305626
NM_001743

n/a

RefSeq (protein)

n/a

Location (UCSC)Chr 2: 47.16 – 47.18 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Calmodulin 2 is a protein that in humans is encoded by the CALM2 gene.[3][4] A member of the calmodulin family of signaling molecules, it is an intermediary between calcium ions, which act as a second messenger, and many intracellular processes, such as the contraction of cardiac muscle.[5]

Clinical significance

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Mutations in CALM2 are associated with cardiac arrhythmias.[6] In particular, several single-nucleotide polymorphisms of CALM2 have been reported as potential causes of sudden infant death syndrome. Due to their heritability, CALM2 mutations can affect multiple children in a family,[7] and the discovery of the deadly consequences of these mutations has led to challenges against the murder convictions of mothers of multiple deceased infants, as in the case of Kathleen Folbigg, acquitted after more than 20 years imprisonment, in Australia.[8]

Interactions

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CALM2 has been shown to interact with AKAP9.[9][10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143933Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Entrez Gene: CALM2 Calmodulin 2 (phosphorylase kinase, delta)".
  4. ^ SenGupta B, Friedberg F, Detera-Wadleigh SD (December 1987). "Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species". The Journal of Biological Chemistry. 262 (34): 16663–16670. doi:10.1016/S0021-9258(18)49306-4. PMID 2445749.
  5. ^ "Entry - *114205 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C - OMIM". omim.org. Retrieved 2023-06-01.
  6. ^ Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, et al. (August 2014). "Novel calmodulin mutations associated with congenital arrhythmia susceptibility". Circulation: Cardiovascular Genetics. 7 (4): 466–474. doi:10.1161/CIRCGENETICS.113.000459. PMC 4140998. PMID 24917665.
  7. ^ Brohus M, Arsov T, Wallace DA, Jensen HH, Nyegaard M, Crotti L, et al. (March 2021). "Infanticide vs. inherited cardiac arrhythmias". Europace. Volume 23, Issue 3. 23 (3). European Heart Rhythm Association (published 17 November 2020): 441–450. doi:10.1093/europace/euaa272. PMC 7947592. PMID 33200177.
  8. ^ Schwartz O. "4 Dead Infants, a Convicted Mother, and a Genetic Mystery". Wired. ISSN 1059-1028. Retrieved 2023-06-01.
  9. ^ Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y (September 2002). "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex". Molecular Biology of the Cell. 13 (9): 3235–3245. doi:10.1091/mbc.E02-02-0112. PMC 124155. PMID 12221128.
  10. ^ Berchtold MW, Egli R, Rhyner JA, Hameister H, Strehler EE (May 1993). "Localization of the human bona fide calmodulin genes CALM1, CALM2, and CALM3 to chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3". Genomics. 16 (2): 461–465. doi:10.1006/geno.1993.1211. PMID 8314583.
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Further reading

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