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CALM2

Protein-coding gene in humans

Protein-coding gene in humans

Calmodulin 2 is a protein that in humans is encoded by the CALM2 gene. 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.

Clinical significance

Mutations in CALM2 are associated with cardiac arrhythmias. 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, 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.

Interactions

CALM2 has been shown to interact with AKAP9.

References

References

  1. "Entrez Gene: CALM2 Calmodulin 2 (phosphorylase kinase, delta)".
  2. (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.
  3. "Entry - *114205 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C - OMIM".
  4. (August 2014). "Novel calmodulin mutations associated with congenital arrhythmia susceptibility". Circulation: Cardiovascular Genetics.
  5. (March 2021). "Infanticide vs. inherited cardiac arrhythmias". European Heart Rhythm Association.
  6. "4 Dead Infants, a Convicted Mother, and a Genetic Mystery".
  7. (September 2002). "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex". Molecular Biology of the Cell.
  8. (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.
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