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 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers and Apelin signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM1.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for CALM2 at DataMed
- Search for CALM2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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:
-
- MIF-1
- TBP
- FOXL1
- FOXO1a
- FOXO1
- HNF-4alpha1
- Nkx6-1
- Pax-4a
Regulatory Element Products
Genomic Locations for CALM2 Gene
Genomic Locations for CALM2 Gene
- chr2:47,160,082-47,176,601
- (GRCh38/hg38)
- Size:
- 16,520 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 Entrez Gene
- 2p21 by HGNC
- 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 to 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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CALM2
-
Abcam antibodies for CALM2
- Invitrogen Antibodies for CALM2
- GeneTex CALM2 Antibody 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
- Search GeneTex for Proteins for CALM2
-
Abcam proteins for CALM2
Assay Products
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- 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 | IDA,IEA | 7607248 |
| GO:0005515 | protein binding | IPI | 3111527 |
| GO:0008179 | adenylate cyclase binding | IPI | 11807546 |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0019855 | calcium channel inhibitor activity | IDA | 26969752 |
Phenotypes for CALM2 Gene
- GenomeRNAi human phenotypes for CALM2:
-
- Decreased viability ratio
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Reduced mammosphere formation
- Decreased ionizing radiation sensitivity
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CALM2
-
CRISPR Products
-
OriGene CRISPR knockouts for CALM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CALM2
- genomics-online: gRNA clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
- Applied Biological Materials CRISPR for CALM2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALM2
- GenScript: Design CRISPR guide RNA sequences for CALM2
miRNA for CALM2 Gene
- miRTarBase miRNAs that target CALM2
-
- hsa-mir-1-3p (MIRT005904)
- 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 sirna, shrna, 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
- genomics-online: shRNA clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CALM2
- VectorBuilder custom plasmid, inducible vectors for CALM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CALM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CALM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALM2
- genomics-online: cdna clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
- orf clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
- Applied Biological Materials Clones for CALM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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. 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 | 3 |
| extracellular | 3 |
| cytoskeleton | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
| mitochondrion | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000922 | spindle pole | IDA | 16760425 |
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | TAS | 10899953 |
| GO:0005813 | centrosome | IDA | 16760425 |
| GO:0005819 | spindle | IEA | -- |
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
|
|
| 3 | Post NMDA receptor activation events | ||
| 4 | Development Angiotensin activation of ERK | ||
| 5 | Development Endothelin-1/EDNRA signaling | ||
Pathways by source for CALM2 Gene
3 Sino Biological pathways for CALM2 Gene
31 BioSystems pathways for CALM2 Gene
38 KEGG pathways for CALM2 Gene
35 GeneGo (Thomson Reuters) pathways for CALM2 Gene
41 Qiagen pathways for CALM2 Gene
Interacting Proteins for CALM2 Gene
GPS-Prot Interaction Network for CALM2
| 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 |
No data available for SIGNOR curated interactions for CALM2 Gene
Transcripts for CALM2 Gene
mRNA/cDNA for CALM2 Gene
- (4) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (3731) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000272298 1302 bps (uc002rvt.2)
- ENST00000460218 4502 bps (uc061ixp.1)
- ENST00000432899 1004 bps (uc061ixq.1)
- ENST00000482532 1891 bps (uc061ixr.1)
- ENST00000456319 703 bps (uc061ixs.1)
Unigene Clusters for CALM2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CALM2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CALM2
- genomics-online: gRNA clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
- Applied Biological Materials CRISPR for CALM2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CALM2
- GenScript: Design CRISPR guide RNA sequences for CALM2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CALM2
- VectorBuilder custom plasmid, inducible vectors for CALM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CALM2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CALM2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CALM2
- genomics-online: cdna clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
- orf clones - Search results for 148 available Calmodulin 2 gene related products
- Overview of 148 available Calmodulin 2 gene related products
- Applied Biological Materials Clones for CALM2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: |
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
NURSA nuclear receptor signaling pathways regulating expression of CALM2 Gene:
CALM2SOURCE GeneReport for Unigene cluster for CALM2 Gene:
Hs.468442Evidence 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
Primer Products
-
OriGene qPCR primer pairs and template standards for CALM2
-
OriGene qPCR primer pairs 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 |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| chimpanzee (Pan troglodytes) |
Mammalia | CALM3 34 |
|
OneToOne | |
| CALM2 33 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CALM2 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Calm2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| CALM 34 33 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | CALM2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CALM 34 |
|
OneToOne | |
| CALM1 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | CALM2 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | calm1a 34 |
|
ManyToMany | |
| calm3b 34 |
|
ManyToMany | |||
| calm3a 34 |
|
ManyToMany | |||
| calm2d 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cam 34 35 |
|
OneToMany | |
| And 35 |
|
|
|||
| CG11165 35 |
|
|
|||
| Mlc-c 35 |
|
|
|||
| TpnC41C 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | cmd-1 34 35 |
|
ManyToMany | |
| cal-6 34 |
|
ManyToMany | |||
| Y73B3A.12 35 |
|
|
|||
| cal-1 35 |
|
|
|||
| cal-2 35 |
|
|
|||
| cal-4 35 |
|
|
|||
| cal-3 35 |
|
|
|||
| F12A10.5 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CMD1 36 |
|
|
|
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CAM7 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0687200 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10340 34 |
|
OneToMany | |
| Cin.4990 33 |
|
||||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cam1 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04120 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4990 33 |
|
- 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
- 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
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs141298844 | benign, Long QT syndrome 1 | 47,162,328(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs375578672 | likely-benign, Long QT syndrome 1 | 47,170,774(-) | G/A | 5_prime_UTR_variant, intron_variant | |
| rs398124647 | likely-pathogenic, pathogenic, Long QT syndrome 1, Long QT syndrome 15, Long QT syndrome 15 (LQT15) [MIM:616249], Long QT syndrome 15 (LQT15) [MIM:616249] | 47,161,851(-) | T/A/C | coding_sequence_variant, missense_variant | |
| rs398124648 | likely-pathogenic, pathogenic, Long QT syndrome 1, Long QT syndrome 15, Long QT syndrome 15 (LQT15) [MIM:616249] | 47,161,748(-) | A/C | coding_sequence_variant, missense_variant | |
| rs398124649 | likely-pathogenic, pathogenic, Long QT syndrome 1, Long QT syndrome 15, Long QT syndrome 15 (LQT15) [MIM:616249] | 47,161,737(-) | T/G | coding_sequence_variant, missense_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
(23) MalaCards diseases for CALM2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| long qt syndrome 15 |
|
|
| long qt syndrome 1 |
|
|
| brugada syndrome |
|
|
| phencyclidine abuse |
|
|
| catecholaminergic polymorphic ventricular tachycardia |
|
|
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
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 58
- 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 58
- Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. (PMID: 27165696) Yu CC … Chen PS (Heart rhythm 2016) 3 4 58
- 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 58
- Novel calmodulin mutations associated with congenital arrhythmia susceptibility. (PMID: 24917665) Makita N … George AL (Circulation. Cardiovascular genetics 2014) 3 4 58
Products for CALM2 Gene
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- Novus Biologicals Tissue Microarrays
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- Cyagen custom Knockout/knockin (KOKI) mouse models for CALM2
- VectorBuilder custom plasmid, inducible vectors for CALM2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CALM2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CALM2
- antibodies-online: Search results for 21 available Calmodulin 2 Antibodies ranked by validation data
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- antibodies-online: