CALM2 Gene (Protein Coding)

Calmodulin 2

GC02M047124
GIFtS:
46
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... See more...

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
  • Calmodulin-2 3 4
  • Phosphorylase Kinase Delta 3
  • LP7057 Protein 3
  • Calmodulin-1 3
  • Calmodulin-3 3
  • CALML2 3
  • CAMIII 3
  • CAMII 3
  • LQT15 3
  • PHKD2 3
  • CALM 3
  • CAM1 3
  • CAM3 3
  • CAMC 3
  • PHKD 3
  • CAM2 4
  • CAMB 4
  • CaM 3

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 Role of Calcineurin-dependent NFAT signaling in lymphocytes and Vesicle-mediated transport. Gene Ontology (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 Summary for CALM2 Gene

  • Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium 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 (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696).

Gene Wiki entry for CALM2 Gene

Additional gene information for CALM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CALM2 Gene

Genomics for CALM2 Gene

GeneHancer (GH) Regulatory Elements for CALM2 Gene

Promoters and enhancers for CALM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CALM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CALM2 gene promoter:
  • FOXL1
  • FOXO1
  • FOXO1a
  • HNF-4alpha1
  • MIF-1
  • Nkx6-1
  • Pax-4a
  • TBP

Genomic Locations for CALM2 Gene

Genomic Locations for CALM2 Gene
chr2:47,160,082-47,176,921
(GRCh38/hg38)
Size:
16,840 bases
Orientation:
Minus strand
chr2:47,387,221-47,403,740
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for CALM2 Gene

Proteins for CALM2 Gene

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

    Protein Symbol:
    P0DP24-CALM2_HUMAN
    Recommended name:
    Calmodulin-2
    Protein Accession:
    P0DP24
    Secondary Accessions:
    • P02593
    • P62158
    • 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 (By similarity). Interacts with RYR1 (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 (By similarity). 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 RYR2; regulates RYR2 calcium-release channel activity (PubMed:27516456, PubMed:18650434, PubMed:26164367). Interacts with PCP4; regulates calmodulin calcium-binding (PubMed:27876793). Interacts with the heterotetrameric KCNQ2 and KCNQ3 channel; the interaction is calcium-independent, constitutive and participates to the proper assembly of a functional heterotetrameric M channel (PubMed:27564677).
    Miscellaneous:
    • This protein has four functional calcium-binding sites.

    Three dimensional structures from OCA and Proteopedia for CALM2 Gene

neXtProt entry for CALM2 Gene

Protein Expression for CALM2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CALM2 Gene

Other Protein References for CALM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CALM2 Gene

Domains & Families for CALM2 Gene

Gene Families for CALM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CALM2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0DP24

UniProtKB/Swiss-Prot:

CALM2_HUMAN :
  • Belongs to the calmodulin family.
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

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Molecular function for CALM2 Gene

UniProtKB/Swiss-Prot Function:
Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium 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 (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696).
GENATLAS Biochemistry:
calmodulin 2,calcium modulated protein

Phenotypes From GWAS Catalog for CALM2 Gene

Gene Ontology (GO) - Molecular Function for CALM2 Gene

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 --
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

CRISPR Products

miRNA for CALM2 Gene

miRTarBase miRNAs that target CALM2

Clone Products

  • Addgene plasmids for CALM2

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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. 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
cytoskeleton 5

Gene Ontology (GO) - Cellular Components for CALM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA,IEA 16760425
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm TAS 10899953
GO:0005813 centrosome IDA 16760425
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with CALM2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CALM2 Gene

Pathways & Interactions for CALM2 Gene

PathCards logo

SuperPathways for CALM2 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 DAG and IP3 signaling
DAG and IP3 signaling
.94
EGFR interacts with phospholipase C-gamma
.94
PLC-gamma1 signalling
.94
Ca-dependent events
.93
Calmodulin induced events
.93
CaM pathway
.93
PLC beta mediated events
.65
G-protein mediated events
.64
Opioid Signalling
.56
G Protein Signaling Pathways
.43
Signal transduction Calcium signaling
.35
Development Beta-adrenergic receptors signaling via cAMP
.32
Cam-PDE 1 activation
.01
3 Post NMDA receptor activation events
Activation of NMDA receptor upon glutamate binding and postsynaptic events
.90
Post NMDA receptor activation events
.90
CREB phosphorylation through the activation of Ras
.78
Activation of CaMK IV
.01
CaMK IV-mediated phosphorylation of CREB
.01
CREB phosphorylation through the activation of CaMKII
.01
CREB phosphorylation through the activation of CaMKK
.01
Ras activation uopn Ca2+ infux through NMDA receptor
.01
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
GnRH signaling pathway
.38
Inflammatory mediator regulation of TRP channels
.37
genes like me logo Genes that share pathways with CALM2: view

Gene Ontology (GO) - Biological Process for CALM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0010800 positive regulation of peptidyl-threonine phosphorylation TAS 20668654
GO:0010801 negative regulation of peptidyl-threonine phosphorylation TAS 20668654
genes like me logo Genes that share ontologies with CALM2: view

No data available for SIGNOR curated interactions for CALM2 Gene

Drugs & Compounds for CALM2 Gene

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(3) Drugs for CALM2 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved, Investigational Pharma Target, agonist 0
Calcium Phosphate Approved Pharma Target, agonist 0
Calcium phosphate dihydrate Approved Pharma Target 0
genes like me logo Genes that share compounds with CALM2: view

Transcripts for CALM2 Gene

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mRNA/cDNA for CALM2 Gene

(4) REFSEQ mRNAs :
(19) Additional mRNA sequences :
(3731) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for CALM2

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

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

mRNA expression in normal human tissues for CALM2 Gene
mRNA expression by GTEx for CALM2 GenemRNA expression by BioGPS 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 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

Evidence on tissue expression from TISSUES for CALM2 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Liver(4.8)
  • Pancreas(4.8)
  • Skin(4.7)
  • Kidney(4.6)
  • Blood(4.5)
  • Eye(4.5)
  • Intestine(4.5)
  • Muscle(4.5)
  • Heart(4.2)
  • Stomach(4.2)
  • Adrenal gland(3.5)
  • Bone(3.5)
  • Spleen(3.3)
  • Thyroid gland(3.2)
  • Bone marrow(2.2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CALM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
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
platypus
(Ornithorhynchus anatinus)
 Mammalia CALM2 33
  • 100 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 100 (a)
 OneToMany
-- 33
  • 97 (a)
 OneToMany
-- 33
  • 96 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia CALM3 33
  • 100 (a)
 OneToOne
CALM2 32
  • 100 (n)
mouse
(Mus musculus)
 Mammalia Calm2 33
  • 100 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia -- 33
  • 99 (a)
 OneToMany
CALM 33 32
  • 97.09 (n)
 OneToMany
dog
(Canis familiaris)
 Mammalia CALM2 33
  • 89 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CALM 33
  • 100 (a)
 OneToOne
CALM1 32
  • 86.58 (n)
lizard
(Anolis carolinensis)
 Reptilia CALM2 33
  • 100 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii calm1a 33
  • 100 (a)
 ManyToMany
calm3b 33
  • 100 (a)
 ManyToMany
calm3a 33
  • 100 (a)
 ManyToMany
calm2d 32
fruit fly
(Drosophila melanogaster)
 Insecta Cam 33 34
  • 98 (a)
 OneToMany
And 34
  • 67 (a)
CG11165 34
  • 53 (a)
Mlc-c 34
  • 46 (a)
TpnC41C 34
  • 45 (a)
worm
(Caenorhabditis elegans)
 Secernentea cmd-1 33 34
  • 98 (a)
 ManyToMany
cal-6 33
  • 76 (a)
 ManyToMany
Y73B3A.12 34
  • 76 (a)
cal-1 34
  • 68 (a)
cal-2 34
  • 65 (a)
cal-3 34
  • 59 (a)
cal-4 34
  • 59 (a)
F12A10.5 34
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CMD1 35
thale cress
(Arabidopsis thaliana)
 eudicotyledons CAM7 32
  • 75.39 (n)
rice
(Oryza sativa)
 Liliopsida Os07g0687200 32
  • 75.17 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10340 33
  • 97 (a)
 OneToMany
Cin.4990 32
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes cam1 32
  • 70.11 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU04120 32
  • 68.68 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4990 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for CALM2: view image

Paralogs for CALM2 Gene

Paralogs for CALM2 Gene

(67) SIMAP similar genes for CALM2 Gene using alignment to 5 proteins:

  • CALM_HUMAN
  • E7EMB3_HUMAN
  • F8WBR5_HUMAN
  • H0Y7A7_HUMAN
  • Q96HY3_HUMAN

Pseudogenes.org Pseudogenes for CALM2 Gene

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

Variants for CALM2 Gene

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Sequence variations from dbSNP and Humsavar for CALM2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1193912501 likely-benign, Long QT syndrome 1 47,161,713(-) A/C intron_variant
rs141298844 benign, likely-benign, Long QT syndrome 1, not specified 47,162,328(-) G/A coding_sequence_variant, synonymous_variant
rs1553431702 pathogenic, Long QT syndrome 15 47,161,730(-) G/C coding_sequence_variant, missense_variant
rs1553431711 likely-pathogenic, uncertain-significance, Long QT syndrome 1, Inborn genetic diseases 47,161,816(-) T/A coding_sequence_variant, missense_variant
rs1553431791 uncertain-significance, Long QT syndrome 1, not provided 47,162,400(-) G/C intron_variant

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

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

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)

Additional Variant Information for CALM2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CALM2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CALM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 15
  • lqt15
long qt syndrome 1
  • lqt1
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
phencyclidine abuse
  • pcp abuse
catecholaminergic polymorphic ventricular tachycardia
  • ventricular tachycardia, catecholaminergic polymorphic, 1
- elite association - COSMIC cancer census association via MalaCards
Search CALM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CALM2_HUMAN
  • 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, ECO:0000269 PubMed:26164367, ECO:0000269 PubMed:26969752, ECO:0000269 PubMed:27165696, ECO:0000269 PubMed:27516456}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in CALM2 are the cause of LQT15.

Additional Disease Information for CALM2

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

No data available for Genatlas for CALM2 Gene

Publications for CALM2 Gene

  1. Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. (PMID: 27165696) Yu CC … Chen PS (Heart rhythm 2016) 3 4 56
  2. Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. (PMID: 27516456) Gomez-Hurtado N … Knollmann BC (Circulation. Arrhythmia and electrophysiology 2016) 3 4 56
  3. Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. (PMID: 26969752) Boczek NJ … Ackerman MJ (Circulation. Cardiovascular genetics 2016) 3 4 56
  4. Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID: 26164367) Vassilakopoulou V … Nomikos M (Biochimica et biophysica acta 2015) 3 4 56
  5. Novel calmodulin mutations associated with congenital arrhythmia susceptibility. (PMID: 24917665) Makita N … George AL (Circulation. Cardiovascular genetics 2014) 3 4 56

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