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Aliases for CALM2 Gene

Aliases for CALM2 Gene

  • Calmodulin 2 2 3 5
  • Calmodulin 2 (Phosphorylase Kinase, Delta) 2 3
  • Phosphorylase Kinase Subunit Delta 2 3
  • Prepro-Calmodulin 2 2 3
  • CaM 3 4
  • Phosphorylase Kinase Delta 3
  • CALM1 CALM2 CALM3 4
  • LP7057 Protein 3
  • Calmodulin 3
  • CALML2 4
  • CAMIII 4
  • CAMII 3
  • LQT15 3
  • PHKD2 3
  • PHKD 3
  • CALM 4
  • CAM1 4
  • CAM2 4
  • CAM3 4
  • CAMB 4
  • CAMC 4

External Ids for CALM2 Gene

Previous GeneCards Identifiers for CALM2 Gene

  • GC02M047405
  • GC02M047556
  • GC02M047361
  • GC02M047298
  • GC02M047240
  • GC02M047272
  • GC02M047387

Summaries for CALM2 Gene

Entrez Gene Summary for CALM2 Gene

  • 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]

GeneCards Summary for CALM2 Gene

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 Metabolism of fat-soluble vitamins and RET signaling. GO annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM3.

UniProtKB/Swiss-Prot for CALM2 Gene

  • Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.

Gene Wiki entry for CALM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALM2 Gene

Genomics for CALM2 Gene

Regulatory Elements for CALM2 Gene

Enhancers for CALM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F047065 2.3 VISTA FANTOM5 Ensembl ENCODE 15 +103.4 103401 16.0 PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 FOS CALM2 LOC100506142 ENSG00000233845 TTC7A MCFD2 ENSG00000225187 C2orf61
GH02F047268 1.7 FANTOM5 Ensembl ENCODE 11.8 -95.6 -95605 6.7 HDGF ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 CBX5 ZNF143 FOS ENSG00000228925 ENSG00000233845 ENSG00000225187 LOC100506142 CALM2 RPL36AP15 SOCS5 RPL18AP6 C2orf61 PIR36995
GH02F046977 1.8 FANTOM5 Ensembl ENCODE 10.9 +192.7 192671 13.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YY1 CBX5 ZNF143 FOS ZNF263 TTC7A MCFD2 ENSG00000233845 CALM2 ENSG00000228925 RHOQ GC02M046968
GH02F046963 1.7 FANTOM5 Ensembl ENCODE 10.4 +208.5 208487 9.0 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS DEK TTC7A MCFD2 CALM2 ENSG00000228925 RHOQ GC02M046968 PIR42793
GH02F047297 1.5 FANTOM5 Ensembl ENCODE 10.8 -123.1 -123100 4.2 ATF1 ELK1 KLF13 ZNF592 CREB3 MEF2D GLIS1 PBX2 NBN KDM1A LOC101927043 CALM2 EPCAM MIR559 KCNK12 PIR58315 PIR36995
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CALM2 on UCSC Golden Path with GeneCards custom track

Promoters for CALM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000012986 1001 3601 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for CALM2 Gene

Chromosome:
2
Start:
47,160,082 bp from pter
End:
47,176,601 bp from pter
Size:
16,520 bases
Orientation:
Minus strand

Genomic View for CALM2 Gene

Genes around CALM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALM2 Gene

Proteins for CALM2 Gene

  • Protein details for CALM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62158-CALM_HUMAN
    Recommended name:
    Calmodulin
    Protein Accession:
    P62158
    Secondary Accessions:
    • P02593
    • P70667
    • P99014
    • Q13942
    • Q53S29
    • Q61379
    • Q61380
    • Q96HK3

    Protein attributes for CALM2 Gene

    Size:
    149 amino acids
    Molecular mass:
    16838 Da
    Quaternary structure:
    • Interacts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY (PubMed:9804419, PubMed:12871148, PubMed:15746192, PubMed:16760425, PubMed:17719545). Interacts with USP6; the interaction is calcium dependent (PubMed:16127172). Interacts with CDK5RAP2 (PubMed:20466722). Interacts with SCN5A (PubMed:21167176). Interacts with RYR1 and RYR2 (PubMed:18650434). Interacts with FCHO1 (PubMed:22484487). Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure (PubMed:23893133). Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with IQCF1 (By similarity). Interacts with SYT7 (By similarity). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity).
    • Interacts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY (PubMed:9804419, PubMed:12871148, PubMed:15746192, PubMed:16760425, PubMed:17719545). Interacts with USP6; the interaction is calcium dependent (PubMed:16127172). Interacts with CDK5RAP2 (PubMed:20466722). Interacts with SCN5A (PubMed:21167176). Interacts with RYR1 and RYR2 (PubMed:18650434). Interacts with FCHO1 (PubMed:22484487). Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure (PubMed:23893133). Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with IQCF1 (By similarity). Interacts with SYT7 (By similarity). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity).
    • Interacts with MYO1C, MYO5A and RRAD. Interacts with MYO10 (By similarity). Interacts with CEP97, CCP110, TTN/titin and SRY (PubMed:9804419, PubMed:12871148, PubMed:15746192, PubMed:16760425, PubMed:17719545). Interacts with USP6; the interaction is calcium dependent (PubMed:16127172). Interacts with CDK5RAP2 (PubMed:20466722). Interacts with SCN5A (PubMed:21167176). Interacts with RYR1 and RYR2 (PubMed:18650434). Interacts with FCHO1 (PubMed:22484487). Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure (PubMed:23893133). Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with IQCF1 (By similarity). Interacts with SYT7 (By similarity). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity).
    Miscellaneous:
    • This protein has four functional calcium-binding sites.
    SequenceCaution:
    • Sequence=CAA36839.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CALM2 Gene

neXtProt entry for CALM2 Gene

Post-translational modifications for CALM2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for CALM2

No data available for DME Specific Peptides for CALM2 Gene

Domains & Families for CALM2 Gene

Gene Families for CALM2 Gene

Protein Domains for CALM2 Gene

Graphical View of Domain Structure for InterPro Entry

P62158

UniProtKB/Swiss-Prot:

CALM_HUMAN :
  • Contains 4 EF-hand domains.
  • Belongs to the calmodulin family.
Domain:
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the calmodulin family.
genes like me logo Genes that share domains with CALM2: view

No data available for Suggested Antigen Peptide Sequences for CALM2 Gene

Function for CALM2 Gene

Molecular function for CALM2 Gene

GENATLAS Biochemistry:
calmodulin 2,calcium modulated protein
UniProtKB/Swiss-Prot Function:
Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins by Ca(2+). Among the enzymes to be stimulated by the calmodulin-Ca(2+) complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis.

Gene Ontology (GO) - Molecular Function for CALM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005509 calcium ion binding IEA,ISS --
GO:0005515 protein binding IPI 3111527
GO:0008179 adenylate cyclase binding IEA --
GO:0008440 inositol-1,4,5-trisphosphate 3-kinase activity TAS --
genes like me logo Genes that share ontologies with CALM2: view
genes like me logo Genes that share phenotypes with CALM2: view

Human Phenotype Ontology for CALM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CALM2 Gene

miRTarBase miRNAs that target CALM2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CALM2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CALM2 Gene

Localization for CALM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CALM2 Gene

Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CALM2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endoplasmic reticulum 3
mitochondrion 2
lysosome 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for CALM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA,IDA 16760425
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 10899953
genes like me logo Genes that share ontologies with CALM2: view

Pathways & Interactions for CALM2 Gene

SuperPathways for CALM2 Gene

SuperPathway Contained pathways
1 RET signaling
2 DAG and IP3 signaling
3 Post NMDA receptor activation events
4 Development Angiotensin activation of ERK
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with CALM2: view

Interacting Proteins for CALM2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000272298%0d%0a9606.ENSP00000266376%0d%0a9606.ENSP00000328968%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000352834%0d%0a9606.ENSP00000275493%0d%0a
Selected Interacting proteins: ENSP00000272298 P62158-CALM_HUMAN for CALM2 Gene via STRING MINT UniProtKB IID

Symbol External ID(s) Details
CACNA1C
KCNH1
MYO10
RCHY1
YWHAZ

Gene Ontology (GO) - Biological Process for CALM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle IEA --
GO:0000165 MAPK cascade TAS --
GO:0001975 response to amphetamine IEA --
GO:0002027 regulation of heart rate IMP 23040497
GO:0002576 platelet degranulation TAS --
genes like me logo Genes that share ontologies with CALM2: view

No data available for SIGNOR curated interactions for CALM2 Gene

Transcripts for CALM2 Gene

Unigene Clusters for CALM2 Gene

Calmodulin 2 (phosphorylase kinase, delta):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CALM2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CALM2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - -
SP2: -
SP3: - -
SP4:

Relevant External Links for CALM2 Gene

GeneLoc Exon Structure for
CALM2
ECgene alternative splicing isoforms for
CALM2

Expression for CALM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CALM2 Gene

Protein differential expression in normal tissues from HIPED for CALM2 Gene

This gene is overexpressed in Lavage (13.7), Bone (10.1), and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CALM2 Gene



Protein tissue co-expression partners for CALM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CALM2 Gene:

CALM2

SOURCE GeneReport for Unigene cluster for CALM2 Gene:

Hs.468442
genes like me logo Genes that share expression patterns with CALM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CALM2 Gene

Orthologs for CALM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CALM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CALM2 34
  • 100 (n)
CALM3 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
-- 35
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Calm2 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CALM2 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 35
  • 99 (a)
OneToMany
CALM 34 35
  • 97.09 (n)
dog
(Canis familiaris)
Mammalia CALM2 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves CALM 35
  • 100 (a)
OneToOne
CALM1 34
  • 86.58 (n)
lizard
(Anolis carolinensis)
Reptilia CALM2 35
  • 100 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii calm1a 35
  • 100 (a)
ManyToMany
calm3a 35
  • 100 (a)
ManyToMany
calm3b 35
  • 100 (a)
ManyToMany
calm2d 34
fruit fly
(Drosophila melanogaster)
Insecta Cam 36 35
  • 97 (a)
And 36
  • 67 (a)
CG11165 36
  • 53 (a)
Mlc-c 36
  • 46 (a)
TpnC41C 36
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea cmd-1 36 35
  • 97 (a)
Y73B3A.12 36
  • 76 (a)
cal-6 35
  • 76 (a)
ManyToMany
cal-1 36
  • 68 (a)
cal-2 36
  • 65 (a)
cal-3 36
  • 59 (a)
cal-4 36
  • 59 (a)
F12A10.5 36
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CMD1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons CAM7 34
  • 75.39 (n)
rice
(Oryza sativa)
Liliopsida Os07g0687200 34
  • 75.17 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10340 35
  • 97 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cam1 34
  • 70.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04120 34
  • 68.68 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4990 34
Species where no ortholog for CALM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CALM2 Gene

ENSEMBL:
Gene Tree for CALM2 (if available)
TreeFam:
Gene Tree for CALM2 (if available)

Paralogs for CALM2 Gene

genes like me logo Genes that share paralogs with CALM2: view

Variants for CALM2 Gene

Sequence variations from dbSNP and Humsavar for CALM2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs398124647 Pathogenic 47,161,851(-) TGGCA(A/G/T)TGGCT reference, missense
rs398124648 Pathogenic 47,161,748(-) ATTGA(G/T)GGTGA reference, missense
rs398124649 Pathogenic 47,161,737(-) TGGTC(A/C)AGTAA reference, missense
rs398124650 Pathogenic 47,161,744(-) ATGGT(C/G)ATGGT reference, missense
rs730882254 Pathogenic 47,161,857(-) CTAGG(A/T)TGGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CALM2 Gene

Variant ID Type Subtype PubMed ID
nsv979001 CNV duplication 23825009
nsv961406 CNV duplication 23825009
nsv581754 CNV gain 21841781
nsv1138773 CNV deletion 24896259
nsv1133272 CNV tandem duplication 24896259
nsv1004828 CNV gain 25217958

Variation tolerance for CALM2 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CALM2 Gene

Human Gene Mutation Database (HGMD)
CALM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALM2 Gene

Disorders for CALM2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for CALM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 15
  • lqts 15
long qt syndrome 1
  • long qt syndrome 1, acquired
phencyclidine abuse
  • pcp abuse
catecholaminergic polymorphic ventricular tachycardia
  • catecholamine-induced polymorphic ventricular tachycardia
cardiac arrest
  • cardiopulmonary arrest
- elite association - COSMIC cancer census association via MalaCards
Search CALM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CALM_HUMAN
  • Long QT syndrome 14 (LQT14) [MIM:616247]: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:23388215, ECO:0000269 PubMed:24076290}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM1 are the cause of LQT14.
  • Long QT syndrome 15 (LQT15) [MIM:616249]: A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:23388215, ECO:0000269 PubMed:24917665}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM2 are the cause of LQT15.
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. {ECO:0000269 PubMed:23040497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CALM2

Genetic Association Database (GAD)
CALM2
Human Genome Epidemiology (HuGE) Navigator
CALM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALM2
genes like me logo Genes that share disorders with CALM2: view

No data available for Genatlas for CALM2 Gene

Publications for CALM2 Gene

  1. Novel calmodulin mutations associated with congenital arrhythmia susceptibility. (PMID: 24917665) Makita N. … George A.L. (Circ Cardiovasc Genet 2014) 3 4 64
  2. Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID: 23388215) Crotti L. … George A.L. (Circulation 2013) 3 4 64
  3. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. (PMID: 23040497) Nyegaard M. … Borglum A.D. (Am. J. Hum. Genet. 2012) 3 4 64
  4. Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5. (PMID: 21167176) Chagot B. … Chazin W.J. (J. Mol. Biol. 2011) 3 4 64
  5. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M. … Freedman B.I. (Am. J. Nephrol. 2011) 3 46 64

Products for CALM2 Gene

Sources for CALM2 Gene