Free for academic non-profit institutions. Other users need a Commercial license
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]
CALM2 (Calmodulin 2) is a Protein Coding gene. Diseases associated with CALM2 include Long Qt Syndrome 15 and Long Qt Syndrome 1. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Physiological and Pathological Hypertrophy of the Heart. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA,IDA | 7607248 |
GO:0005515 | protein binding | IPI | 3111527 |
GO:0008179 | adenylate cyclase binding | IPI | 11807546 |
GO:0010856 | adenylate cyclase activator activity | IDA | 11807546 |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000922 | spindle pole | IEA,IDA | 16760425 |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | TAS | 10899953 |
GO:0005813 | centrosome | IDA | 16760425 |
GO:0005815 | microtubule organizing center | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | DAG and IP3 signaling |
.93
|
Signal transduction Calcium signaling
.35
Development Beta-adrenergic receptors signaling via cAMP
.32
|
3 | Post NMDA receptor activation events | ||
4 | Development Angiotensin activation of ERK |
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
|
Development G-Proteins mediated regulation MARK-ERK signaling
.65
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
|
5 | Development Endothelin-1/EDNRA signaling |
Development Endothelin-1/EDNRA signaling
.41
Development Endothelin-1/EDNRA transactivation of EGFR
.41
Cytoskeleton remodeling FAK signaling
.41
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | IEA | -- |
GO:0000226 | microtubule cytoskeleton organization | IBA | -- |
GO:0002027 | regulation of heart rate | IMP | 23040497 |
GO:0005513 | detection of calcium ion | IMP | 23040497 |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | 10899953 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CALM2 30 |
|
||
CALM3 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Calm2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CALM2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
CALM 30 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | CALM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CALM 31 |
|
OneToOne | |
CALM1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | CALM2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | calm1a 31 |
|
ManyToMany | |
calm3b 31 |
|
ManyToMany | |||
calm3a 31 |
|
ManyToMany | |||
calm2d 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cam 31 32 |
|
OneToMany | |
And 32 |
|
|
|||
CG11165 32 |
|
|
|||
Mlc-c 32 |
|
|
|||
TpnC41C 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | cmd-1 31 32 |
|
ManyToMany | |
cal-6 31 |
|
ManyToMany | |||
Y73B3A.12 32 |
|
|
|||
cal-1 32 |
|
|
|||
cal-2 32 |
|
|
|||
cal-3 32 |
|
|
|||
cal-4 32 |
|
|
|||
F12A10.5 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CMD1 33 |
|
|
|
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CAM7 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0687200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10340 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cam1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04120 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4990 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
854156 | Uncertain Significance: Romano-Ward syndrome | 47,162,324(-) |
C/T NM_001743.6(CALM2):c.247G>A (p.Glu83Lys) |
MISSENSE | |
946744 | Uncertain Significance: Romano-Ward syndrome | 47,162,281(-) |
C/T NM_001743.6(CALM2):c.285+5G>A |
INTRON | |
955533 | Pathogenic: Romano-Ward syndrome | 47,161,749(-) |
T/C NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) |
MISSENSE | |
956093 | Uncertain Significance: Romano-Ward syndrome | 47,161,825(-) |
G/A NM_001743.6(CALM2):c.319C>T (p.Arg107Cys) |
MISSENSE | |
970445 | Uncertain Significance: Romano-Ward syndrome | 47,162,593(-) |
G/A NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1004828 | CNV | gain | 25217958 |
nsv1133272 | CNV | tandem duplication | 24896259 |
nsv1138773 | CNV | deletion | 24896259 |
nsv581754 | CNV | gain | 21841781 |
nsv961406 | CNV | duplication | 23825009 |
nsv979001 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
long qt syndrome 15 |
|
|
long qt syndrome 1 |
|
|
familial long qt syndrome |
|
|
catecholaminergic polymorphic ventricular tachycardia |
|
|
long qt syndrome |
|
|