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CALM2 calmodulin 2 [ Homo sapiens (human) ]

Gene ID: 805, updated on 24-Nov-2020

Summary

Official Symbol
CALM2provided by HGNC
Official Full Name
calmodulin 2provided by HGNC
Primary source
HGNC:HGNC:1445
See related
Ensembl:ENSG00000143933 MIM:114182
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
caM; CALM; CAM1; CAM3; CAMC; PHKD; CAMII; LQT15; PHKD2; CALML2; CAMIII
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]
Expression
Ubiquitous expression in brain (RPKM 152.2), testis (RPKM 98.3) and 24 other tissues See more
Orthologs

Genomic context

See CALM2 in Genome Data Viewer
Location:
2p21
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (47160082..47176936, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47387221..47404229, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 7A Neighboring gene VISTA enhancer hs1967 Neighboring gene sperm-tail PG-rich repeat containing 4 Neighboring gene EPCAM divergent transcript Neighboring gene uncharacterized LOC105374588 Neighboring gene uncharacterized LOC107985882

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
GeneReviews: Not available
Long QT syndrome 15
MedGen: C4015695 OMIM: 616249 GeneReviews: Long QT Syndrome
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env The calmodulin-binding domains in HIV-1 gp160 are involved in Fas-mediated apoptosis PubMed
env The carboxyl-terminal domains (residues 768-788 and 826-854) of HIV-1 gp160 bind to calmodulin (CaM) PubMed
Envelope transmembrane glycoprotein gp41 env The carboxyl terminus (amino acid residues 768-788 and 828-855) of HIV-1 gp41 binds efficiently to purified calmodulin (CaM) and inhibits in vitro CaM-mediated stimulation of phosphodiesterase activity PubMed
env The fusion between CD4+ human cells and cells stably expressing HIV-1 gp41 and gp120 is inhibited by calmodulin PubMed
Nef nef HIV-1 Nef induces interleukin 10 expression through an interaction with the calcium/calmodulin-dependent phosphodiesterase signal transduction pathway PubMed
nef HIV-1 Nef-induced CCL-2/MCP-1 upregulation in astrocytes depends on the myristoylation moiety (residues 2-3) of Nef and requires functional calmodulin PubMed
nef Fluorescence spectroscopy analyses indicate the myristoylated N-terminal eight amino acids of HIV-1 Nef directly interact with calcium bound calmodulin PubMed
Tat tat Calmodulin and calmodulin-dependent protein kinase-II (CaMK-II)-activated p38 MAPK play a role in extracellular Tat-induced IL-10 expression in primary human monocytes PubMed
matrix gag An HIV-1 MA peptide (residues 8-43) binds to CaM with a very high affinity with dissociation constant 25 nm PubMed
gag Calmodulin (CaM) binding to HIV-1 MA induces the extrusion of the myristate group, suggesting that hydrophobic contacts between CaM and MA are critical for binding PubMed
gag Calmodulin binds to both HIV-1 Gag and Matrix proteins through an extended calmodulin-binding domain in Matrix (amino acids 11-46) PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ99410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-terminal myristoylation domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
adenylate cyclase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enzyme regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activator activity TAS
Traceable Author Statement
more info
PubMed 
titin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
G2/M transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of peptidyl-threonine phosphorylation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cyclic-nucleotide phosphodiesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of peptidyl-threonine phosphorylation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein autophosphorylation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC
Inferred by Curator
more info
 
regulation of cell communication by electrical coupling involved in cardiac conduction IC
Inferred by Curator
more info
 
regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
substantia nigra development HEP PubMed 
Component Evidence Code Pubs
calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
catalytic complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere IDA
Inferred from Direct Assay
more info
PubMed 
spindle microtubule IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
vesicle HDA PubMed 
voltage-gated potassium channel complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
calmodulin-2
Names
Calmodulin-1
Calmodulin-3
LP7057 protein
calmodulin 2 (phosphorylase kinase, delta)
phosphorylase kinase delta
phosphorylase kinase subunit delta
prepro-calmodulin 2
NP_001292553.1
NP_001292554.1
NP_001292555.1
NP_001734.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042065.1 RefSeqGene

    Range
    5001..21855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001305624.1NP_001292553.1  calmodulin-2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI873701, BC017385, BG563041, HY022313
    UniProtKB/Swiss-Prot
    P0DP24
    Conserved Domains (1) summary
    PTZ00184
    Location:50197
    PTZ00184; calmodulin; Provisional
  2. NM_001305625.2NP_001292554.1  calmodulin-2 isoform 3

    See identical proteins and their annotated locations for NP_001292554.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same protein.
    Source sequence(s)
    AI873701, BC017385, HY108355
    UniProtKB/Swiss-Prot
    P0DP24
    UniProtKB/TrEMBL
    Q96HY3
    Related
    ENSP00000499266.1, ENST00000655450.1
    Conserved Domains (1) summary
    PTZ00184
    Location:1113
    PTZ00184; calmodulin; Provisional
  3. NM_001305626.1NP_001292555.1  calmodulin-2 isoform 3

    See identical proteins and their annotated locations for NP_001292555.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC073283, AI873701, BC017385, BC047553
    UniProtKB/Swiss-Prot
    P0DP24
    UniProtKB/TrEMBL
    Q96HY3
    Related
    ENST00000460218.5
    Conserved Domains (1) summary
    PTZ00184
    Location:1113
    PTZ00184; calmodulin; Provisional
  4. NM_001743.6NP_001734.1  calmodulin-2 isoform 2

    See identical proteins and their annotated locations for NP_001734.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1, and is the same protein encoded by other calmodulin gene family members.
    Source sequence(s)
    AI873701, BC017385
    Consensus CDS
    CCDS1832.1
    UniProtKB/Swiss-Prot
    P0DP23, P0DP24, P0DP25
    UniProtKB/TrEMBL
    B4DJ51
    Related
    ENSP00000272298.7, ENST00000272298.12
    Conserved Domains (1) summary
    PTZ00184
    Location:1149
    PTZ00184; calmodulin; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    47160082..47176936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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