CALM2 - calmodulin 2 Gene

Also Known as caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 805

About CALM2

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:47,160,082-47,176,936 (from NCBI)

This gene has 14 transcripts (splice variants), 241 orthologues, 20 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 152.2), testis (RPKM 98.3) and 24 other tissues.

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]

CALM2 Products (4)

mRNA Protein Name
NM_001305624.1 NP_001292553.1 calmodulin-2 isoform 1
NM_001305625.2 NP_001292554.1 calmodulin-2 isoform 3
NM_001305626.1 NP_001292555.1 calmodulin-2 isoform 3
NM_001743.6 NP_001734.1 calmodulin-2 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables adenylate cyclase activator activity IDA
IDA: Inferred from direct assay
11807546 GOA
enables adenylate cyclase binding IPI
IPI: Inferred from physical interaction
11807546 GOA
enables calcium channel inhibitor activity IDA
IDA: Inferred from direct assay
26969752 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
7607248 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
3111527 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20668654 GOA
enables protein phosphatase activator activity IDA
IDA: Inferred from direct assay
8631777 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: Inferred from direct assay
35568036 GOA
enables titin binding IPI
IPI: Inferred from physical interaction
7607248 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
21167176 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in detection of calcium ion IMP
IMP: Inferred from mutant phenotype
23040497 GOA
involved in negative regulation of ryanodine-sensitive calcium-release channel activity IDA
IDA: Inferred from direct assay
26164367 GOA
involved in positive regulation of cyclic-nucleotide phosphodiesterase activity IDA
IDA: Inferred from direct assay
8631777 GOA
involved in positive regulation of ryanodine-sensitive calcium-release channel activity IDA
IDA: Inferred from direct assay
20226167 GOA
involved in regulation of cardiac muscle contraction IMP
IMP: Inferred from mutant phenotype
23040497 GOA
involved in regulation of cytokinesis IMP
IMP: Inferred from mutant phenotype
16760425 GOA
involved in regulation of heart rate IMP
IMP: Inferred from mutant phenotype
23040497 GOA
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
IDA: Inferred from direct assay
20226167 GOA
involved in response to calcium ion IDA
IDA: Inferred from direct assay
7607248 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of calcium channel complex IDA
IDA: Inferred from direct assay
23040497 GOA
part of catalytic complex IDA
IDA: Inferred from direct assay
11807546 GOA
located in centrosome IDA
IDA: Inferred from direct assay
16760425 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
27165696 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
19855925 GOA
located in sarcomere IDA
IDA: Inferred from direct assay
20226167 GOA
located in spindle microtubule IDA
IDA: Inferred from direct assay
16760425 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
16760425 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CALM2 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (14 - 73)

EF-hand_7

EF-hand_7: EF-hand domain pair (86 - 146)

  • 0
  • 100
  • 149 a.a.
Protein Preferred Names Protein Names

calmodulin-2

  • Calmodulin-1

Recombinant CALM2 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P7710 Calmodulin Protein, Human P0DP23 (M1-K149) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P75461 CALM2 Protein, Human (His) P0DP24 (M1-K149) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Long Qt Syndrome 15

  • LQT15

  • Long Qt Syndrome, Type 15
Long Qt Syndrome 1

  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1
Sudden Infant Death Syndrome

  • SIDS

  • Sudden Infant Death Syndrome, Susceptibility To

  • Cot Death

  • Crib Death

  • Sudden Death Of Nonspecific Cause In Infancy

  • Sudden Infant Death

  • Death, Sudden, Syndrome, Infant
Catecholaminergic Polymorphic Ventricular Tachycardia

  • Cpvt

  • Catecholamine-Induced Polymorphic Ventricular Tachycardia

  • Familial Polymorphic Ventricular Tachycardia

  • Malignant Paroxysmal Ventricular Tachycardia

  • Multifocal Ventricular Premature Beats

  • Stress-Induced Polymorphic Ventricular Tachycardia

  • Bidirectional Tachycardia Induced By Catecholamine

  • Double Tachycardia Induced By Catecholamines

  • Polymorphic Catecholergic Ventricular Tachycardia

  • Syncopal Paroxysmal Tachycardia

  • Bidirectional Tachycardia Induced By Catecholamines

  • Fpvt

  • Bidirectional Ventricular Tachycardia Induced By Catecholamine

  • Polymorphic Ventricular Tachycardia Induced By Catecholamines

  • Ventricular Tachycardia, Catecholaminergic Polymorphic

  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

  • Familial Ventricular Tachycardia

  • Multifocal Pvcs

  • Multifocal Premature Ventricular Beats
Long Qt Syndrome

  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome
Phencyclidine Abuse

  • Pcp Abuse
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS26152 Calm2 Rat Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CALM2 RGD RGD:2258
Mus musculus CALM2 MGD MGI:103250