CALM2 - calmodulin 2 Gene

Homo sapiens

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

Gene ID: 805 | Gene type: protein coding

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

CALM2 Protein Structure

EF-hand_7

0
100
149 a.a.

Protein Preferred Names

Protein Names

calmodulin-2

Calmodulin-1

Recombinant CALM2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7710	Calmodulin Protein, Human	P0DP23 (M1-K149)	≥95%
HY-P75461	CALM2 Protein, Human (His)	P0DP24 (M1-K149)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01841	CALM2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

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

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