Basic Information

Symbol
CALM2
RNA class
mRNA
Alias
Calmodulin 2 PHKD2 CAMII PHKD Calmodulin 2 (Phosphorylase Kinase, Delta) Phosphorylase Kinase Subunit Delta 2 Phosphorylase Kinase Subunit Delta Prepro-Calmodulin 2 Calmodulin-2 Phosphorylase Kinase Delta LP7057 Protein Calmodulin-1 Calmodulin-3 CALML2 CAMIII LQT15 CALM CAM1 CAM3 CAMC CAM2 CAMB CaM
Location (GRCh38)
2:47160084-47176921
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden unexpected death diagnosis Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001743.6
Sequence length
1210.0 nt
GC content
0.3727

Secondary Structure

Generated by RNAfold
Minimum free energy (MFE) structure:
Secondary structure that contributes a minimum of free energy.
Ensemble properties:
Thermodynamic properties of the Boltzmann ensemble.
Minimum free energy
-302.30 kcal/mol
Thermodynamic ensemble
Free energy: -327.03 kcal/mol
Frequency: 0.0000
Diversity: 215.70
MFE Structure Visualization
Structure Prediction
MFE Structure Prediction
...(((((((((((((((((..((((((((((..(((((((((.((((...))))..))))..((......)).))))).(((.((....)))))...(((((.....((((((((((.(((((((((.....))))))))).)))....((((((.(((((((.(((((.((((..((((....)))).))))..))))).....(((((((((((..((((..(((((((.....(((((((((((...((((.((((.(.((((((.(......(((((((((((.((((.((..((((((((..((.(((((((....(((((.....((((..(((((.((((((((((((.(((.((((......(((........)))..))))))).))((.(((((((..(((.((((((.(((((((((((((((((......)))))....(((((((..((((((..((..((((.(((..........(((((((((....(.((......)).).....)))))))))..........)))))))..))..)))))))))))))..)))))))))))))))))).)))....))))))).)))))..)))))))...))))).))))....)))))....)))))))..))..)))))..)))..)).)))).)))))))))))((((((.....))))))....((((((((.(.(((((...)))))((((((.............))))))........((((((....)))))).).)))))))).).))))))....).)))).))))..((((((((.......)))))))))))))))))))....))))))).)))).....)))))))))))((.((((......)))).)).....((((((......((((((.((....))..))))))......))))))..(((((.........)))))..(((((.....))))).......))))))).))))))...)))))))....))))).))))))))))...)).))))..((((.....))))............(((((((((((.(((((((((.......(((((((.........((((((((((((.......)))).....))))))))........))))))))))))))))))))))).)))))))))))))))
Thermodynamic Ensemble Prediction
...(((((((((((((((((..((((((((((,,{(((((({{.((((...))))..))))..,||||..,}}|}}))|,,,{.,({{{{|||||.,,|{,,,.....,{{{(({(({.(((((((((.....))))))))).}))....((((((.(((((((.(((((.((((..{(((....)))}.))))..))))).....((((((((((((.,(((..(((((((...{.(((((((((((...((((.(((({(.((((((.{......(((((((((((.((((.{{..((((((((..((.(((((((....(((((.....((((..(((((.((((((((((((.((,,((((......(((........)))..))))))).))((.(((((((,.(((.{((((,{((((((((((({{((((....,.|||||....((((((.{{,(((((..{...,,,,,,,|}}}}.}}..)))))}.,...,,.,.,..(((({{((({.{..((((((((((..{....,..)))}}))))))..,}.)))))))))..})))))))))))))))),.))).}..))))))).)))))..))))))}...))))).))))....)))))....)))))))..))..)))))}.}))..}}.)))).)))))))))))((((((.....))))))....((((((((.(..,....{(({.|.((((({....,,,....,,))))))....}))}((((((....)))))).).)))))))).}.))))))..,,..)))).))))..((((((((.......))))))))))))))))))).}..))))))).,)))}...))))))))))))({.((((......)))).}).....((((({.....,((((,{..|},,..,.,||||}}......})))))..(((({.........)))))..(((((.....))))).......))))))).))))))..,))))))),...,,}},,))))))))))...)).))))..((((.....))))............(((((((((((.(((((((((.......(((((((.........((((((((((((.......)))).....))))))))..,,....))))))))))))))))))))))).)))))))))))))))

Transcripts

ID Sequence Length GC content
NM_001305624.1 NCBI
GAGGGGAGGGGGUUGGCCGGGACUCGUUUGCGAUGUUCCGUUAUCUGGA… 1377 nt 0.3943
NM_001305625.2 NCBI
AGUUGCCAGGACAGCGCGGCCCGAGCAGCAACGGCAGAAGCCGCACCGC… 1227 nt 0.3839
NM_001305626.1 NCBI
AGAUUGCUCAUGUAACUCUUGAGUUUACAUGUAAUCAACAUAUGCUCAU… 4591 nt 0.3607
NM_001743.6 NCBI
AGUCCGAGUGGAGAGAGCGAGCUGAGUGGUUGUGUGGUCGCGUCUCGGA… 1210 nt 0.3727
Summary

This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

Forensic Context

A study in humans analyzing whole-exome sequencing data from 45 sudden unexplained death (SUD) cases identified a heterozygous, ultra-rare 3' UTR deletion in CALM2 (c.*343_*345del) as a candidate variant for SUD predisposition [Wang et al. DOI:10.007/s00414-024-03329-6]. A study in humans demonstrated that the CALM2 mRNA, categorized under signal transduction, was down-regulated by 63% in pericontusional brain tissue from a traumatic brain injury patient (T6) compared to control tissue, as identified through cDNA microarray analysis [Michael et al. DOI:10.1016/j.jocn.2004.11.003].