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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
External Ids for CALM2 Gene
- HGNC: 1445
- Entrez Gene: 805
- Ensembl: ENSG00000143933
- OMIM: 114182
- UniProtKB: P0DP24
Previous GeneCards Identifiers for CALM2 Gene
- GC02M047405
- GC02M047556
- GC02M047361
- GC02M047298
- GC02M047240
- GC02M047272
- GC02M047387
Summaries 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 DAG and IP3 signaling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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).
Additional gene information for CALM2 Gene
- HGNC(1445)
- Entrez Gene(805)
- Ensembl(ENSG00000143933)
- OMIM(114182)
- UniProtKB(P0DP24)
- Open Targets Platform(ENSG00000143933)
- Monarch Initiative
- Search for CALM2 at DataMed
- Search for CALM2 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CALM2
- 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
- chr2:47,160,082-47,176,936
- (GRCh38/hg38)
- Size:
- 16,855 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:
-
- 2p21 by HGNC
- 2p21 by Entrez Gene
- 2p21 by Ensembl
CALM2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CALM2 Gene
Proteins for CALM2 Gene
-
Protein details for CALM2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0DP24-CALM2_HUMAN
- Recommended name:
- Calmodulin-2
- Protein Accession:
- P0DP24
- 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 in the proper assembly of a functional heterotetrameric M channel (PubMed:27564677).
- Miscellaneous:
-
- This protein has four functional calcium-binding sites.
Protein Expression for CALM2 Gene
Post-translational modifications for CALM2 Gene
- Ubiquitination results in a strongly decreased activity.
- Phosphorylation results in a decreased activity.
Other Protein References for CALM2 Gene
Antibody Products
- GeneTex Anti-Calmodulin antibody
- Creative Biolabs Mouse Anti-CALM2 Recombinant Antibody (16C21)
- Novus Biologicals Antibodies for CALM2
- Invitrogen Antibodies for CALM2 (AFLGC-CALM2)
-
Boster Bio Antibodies for CALM2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CALM2
- Sino Biological Antibodies for CALM2
Protein Products
-
OriGene Purified Proteins for CALM2
- Search Origene for MassSpec and Protein Over-expression Lysates for CALM2
- Origene Custom Protein Services for CALM2
- Sino Biological Recombinant Proteins for CALM2
- Browse Sino Biological Cell Lysates
-
Abcam proteins for CALM2
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):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for CALM2 Gene
- InterPro:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
P0DP24- Family:
-
- Belongs to the calmodulin family.
No data available for Suggested Antigen Peptide Sequences for CALM2 Gene
Function for CALM2 Gene
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
| 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 | -- |
Phenotypes for CALM2 Gene
- GenomeRNAi human phenotypes for CALM2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- Decreased viability ratio
- Decreased viability
- Strongly decreased CFP-tsO45G cell surface transport
- Reduced mammosphere formation
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased ionizing radiation sensitivity
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased cell–culture–derived Hepatitis C virus (HCVcc; Luc–Jc1) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CALM2 - Select products 50% OFF >
- * CALM2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CALM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CALM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALM2
miRNA for CALM2 Gene
- miRTarBase miRNAs that target CALM2
-
- mmu-miR-1a-3p (MIRT001098)
- hsa-miR-1-3p (MIRT005904)
- rno-miR-1-3p (MIRT007411)
- hsa-miR-598-3p (MIRT040483)
- hsa-miR-1261 (MIRT302859)
- hsa-miR-3613-3p (MIRT302872)
- hsa-let-7c-3p (MIRT353404)
- hsa-miR-3680-3p (MIRT480175)
- hsa-miR-557 (MIRT480176)
- hsa-miR-507 (MIRT480177)
- hsa-miR-450b-5p (MIRT480178)
- hsa-miR-106a-3p (MIRT480179)
- hsa-miR-655-3p (MIRT480180)
- hsa-miR-374c-5p (MIRT480181)
- hsa-miR-19b-2-5p (MIRT480182)
- hsa-miR-19b-1-5p (MIRT480183)
- hsa-miR-19a-5p (MIRT480184)
- hsa-miR-1911-5p (MIRT480185)
- hsa-miR-4530 (MIRT480186)
- hsa-miR-369-3p (MIRT480187)
- hsa-miR-4280 (MIRT480188)
- hsa-miR-7851-3p (MIRT480189)
- hsa-miR-619-3p (MIRT480190)
- hsa-miR-634 (MIRT480191)
- hsa-miR-8055 (MIRT485724)
- hsa-miR-1304-5p (MIRT485726)
- hsa-miR-550b-2-5p (MIRT485727)
- hsa-miR-6765-5p (MIRT485728)
- hsa-miR-6505-5p (MIRT485729)
- hsa-miR-1227-3p (MIRT485730)
- hsa-miR-1290 (MIRT485731)
- hsa-miR-876-5p (MIRT485732)
- hsa-miR-3167 (MIRT485733)
- hsa-miR-1827 (MIRT485734)
- hsa-miR-1246 (MIRT485735)
- hsa-miR-890 (MIRT485736)
- hsa-miR-206 (MIRT485737)
- hsa-miR-613 (MIRT485738)
- hsa-miR-653-5p (MIRT507897)
- hsa-miR-943 (MIRT507898)
- hsa-miR-4439 (MIRT507899)
- hsa-miR-3136-5p (MIRT507900)
- hsa-miR-4671-3p (MIRT507901)
- hsa-miR-891b (MIRT507902)
- hsa-miR-1279 (MIRT507903)
- hsa-miR-5580-3p (MIRT507904)
- hsa-miR-454-3p (MIRT507905)
- hsa-miR-4295 (MIRT507906)
- hsa-miR-301b-3p (MIRT507907)
- hsa-miR-301a-3p (MIRT507908)
- hsa-miR-130b-3p (MIRT507909)
- hsa-miR-3666 (MIRT507910)
- hsa-miR-130a-3p (MIRT507911)
- hsa-miR-302c-5p (MIRT514025)
- hsa-miR-493-5p (MIRT514026)
- hsa-let-7g-3p (MIRT514027)
- hsa-let-7a-2-3p (MIRT514028)
- hsa-miR-548an (MIRT514029)
- hsa-miR-7856-5p (MIRT572192)
- hsa-miR-5590-5p (MIRT774871)
- hsa-miR-6792-5p (MIRT779315)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CALM2
- Browse OriGene Inhibitory RNA Products For CALM2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALM2
Clone Products
- Applied Biological Materials (abm): Clones for CALM2 - Select products 50% OFF >
- * CALM2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CALM2
- Addgene plasmids for CALM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALM2
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| nucleus | 4 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IEA,IDA | 16760425 |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | TAS | 10899953 |
| GO:0005813 | centrosome | IDA | 16760425 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CALM2 Gene
Pathways & Interactions for CALM2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | DAG and IP3 signaling |
.93
|
Signal transduction Calcium signaling
.35
Development Beta-adrenergic receptors signaling via cAMP
.32
|
| 3 | Post NMDA receptor activation events | ||
| 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
|
|
Pathways by source for CALM2 Gene
3 Sino Biological pathways for CALM2 Gene
31 BioSystems pathways for CALM2 Gene
41 KEGG pathways for CALM2 Gene
35 GeneGo (Thomson Reuters) pathways for CALM2 Gene
- Cell adhesion Integrin inside-out signaling
- Cytoskeleton remodeling FAK signaling
- Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
- Cytoskeleton remodeling_RalA regulation pathway
- Cytoskeleton remodeling_RalB regulation pathway
41 Qiagen pathways for CALM2 Gene
- Activation of cAMP-Dependent PKA
- Alpha-Adrenergic Signaling
- Androgen Signaling
- Breast Cancer Regulation by Stathmin1
- Calcium Mediated T-Cell Apoptosis
Interacting Proteins for CALM2 Gene
GPS-Prot Interaction Network for CALM2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | IEA | -- |
| GO:0000226 | microtubule cytoskeleton organization | IBA | 21873635 |
| 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 |
No data available for SIGNOR curated interactions for CALM2 Gene
Transcripts for CALM2 Gene
mRNA/cDNA for CALM2 Gene
- 4 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000272298 1210 nts (view in UCSC)
- ENST00000460218 4502 nts (view in UCSC)
- ENST00000652974 1242 nts (view in UCSC)
- ENST00000655450 1126 nts (view in UCSC)
- ENST00000432899 1004 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CALM2 - Select products 50% OFF >
- * CALM2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CALM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CALM2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALM2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CALM2
- Browse OriGene Inhibitory RNA Products For CALM2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CALM2
Clone Products
- Applied Biological Materials (abm): Clones for CALM2 - Select products 50% OFF >
- * CALM2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CALM2
- Addgene plasmids for CALM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALM2
| 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
Expression 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CALM2
SOURCE GeneReport for Unigene cluster for CALM2 Gene:
Hs.468442Evidence on tissue expression from TISSUES for CALM2 Gene
- Nervous system(5)
- Liver(5)
- Lung(5)
- Blood(4.8)
- Pancreas(4.7)
- Skin(4.6)
- Kidney(4.3)
- Intestine(4.3)
- Eye(4.3)
- Muscle(4.1)
- Stomach(3.9)
- Heart(3.7)
- Bone(3.2)
- Spleen(2.8)
- Thyroid gland(2.6)
- Lymph node(2.6)
- Adrenal gland(2.5)
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
Primer Products
-
OriGene qPCR primer pairs for CALM2
-
OriGene qPCR primer pairs and template standards for CALM2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CALM2 30 |
|
||
| CALM3 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Calm2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CALM2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
| CALM 30 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | CALM2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CALM 31 |
|
OneToOne | |
| CALM1 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | CALM2 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | calm1a 31 |
|
ManyToMany | |
| calm3b 31 |
|
ManyToMany | |||
| calm3a 31 |
|
ManyToMany | |||
| calm2d 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cam 31 32 |
|
OneToMany | |
| And 32 |
|
|
|||
| CG11165 32 |
|
|
|||
| Mlc-c 32 |
|
|
|||
| TpnC41C 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | cmd-1 31 32 |
|
ManyToMany | |
| cal-6 31 |
|
ManyToMany | |||
| Y73B3A.12 32 |
|
|
|||
| cal-1 32 |
|
|
|||
| cal-2 32 |
|
|
|||
| cal-3 32 |
|
|
|||
| cal-4 32 |
|
|
|||
| F12A10.5 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CMD1 33 |
|
|
|
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CAM7 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0687200 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10340 31 |
|
OneToMany | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cam1 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU04120 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4990 30 |
|
- Species where no ortholog for CALM2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
- CALM1
- OK/SW-cl.41
- CALML3
- CALM3
- X-linked retinopathy protein
- FP6651
- C9orf85
- CLTA
- CALML5
- CETN1
- C3orf64
- TNNC2
- CETN2
- SH2B3
- FP6778
- TNNC1
- HC6
- GPD2
- KIAA1651
- CALN1
- MYL9
- MYL12B
- CABP5
- CABP1
- MYL6
- GEMIN6
- CALML6
- MYL4
- MYL1
- CALML4
- MYL12A
- CABP2
- MYL3
- MYL5
- EFCAB2
- MYL2
- OCM
- NCALD
- EFCAB11
- CETN3
- OCM2
- MYLPF
- MYL10
- CABP4
- PPP3R1
- HZGJ
- ACTN2
- MYL7
- PPP3R2
- AIF1
- MYL6B
- CIB3
- PVALB
- GUCA1C
- SLC25A23
- ACTN4
- SLC25A24
- EFCAB7
- DKFZp781K1922
- ACTN3
- ACTN1
- CIB2
- DUOX1
- SPTAN1
- GUCA1B
- DKFZp686E1183
- HPCAL1
Pseudogenes.org Pseudogenes for CALM2 Gene
Variants for CALM2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CALM2 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641544 | Uncertain Significance: Romano-Ward syndrome | 47,161,858(-) | C/A | MISSENSE_VARIANT | |
| 650245 | Uncertain Significance: Romano-Ward syndrome | 47,161,730(-) | G/T | MISSENSE_VARIANT | |
| 650556 | Uncertain Significance: Romano-Ward syndrome | 47,161,765(-) | T/C | MISSENSE_VARIANT | |
| 668517 | Likely Benign: not provided | 47,162,267(-) | T/G | INTRON_VARIANT | |
| 674615 | Benign: not provided | 47,161,627(-) | A/G | INTRON_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALM2 Gene
Disorders for CALM2 Gene
(9) MalaCards diseases for CALM2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| long qt syndrome 15 |
|
|
| long qt syndrome 1 |
|
|
| brugada syndrome |
|
|
| catecholaminergic polymorphic ventricular tachycardia |
|
|
| long qt syndrome |
|
|
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
- Open Targets Platform
No data available for Genatlas for CALM2 Gene
Publications for CALM2 Gene
- 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
- Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. (PMID: 27165696) Yu CC … Chen PS (Heart rhythm 2016) 3 4
- 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
- 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
- Novel calmodulin mutations associated with congenital arrhythmia susceptibility. (PMID: 24917665) Makita N … George AL (Circulation. Cardiovascular genetics 2014) 3 4
ExternalLinks
Products for CALM2 Gene
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