CALM2 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | CALM2 |
| Entrez Gene ID | 805 |
| Full Name | calmodulin 2 |
| Synonyms | CAMII,LQT15,PHKD,PHKD2,caM |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]. |
| Disorder MIM: | |
| Disorder Html: | Long QT syndrome 15, 616249 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_001305625.1 | NP_001292554.1 | calmodulin-2 isoform 3 |
| NM_001305626.1 | NP_001292555.1 | calmodulin-2 isoform 3 |
| NM_001305624.1 | NP_001292553.1 | calmodulin-2 isoform 1 |
| NM_001743.5 | NP_001734.1 | calmodulin-2 isoform 2 |
| Homo sapiens (human) | CALM2 | NP_001734.1 |
| Homo sapiens (human) | CALM3 | NP_005175.2 |
| LOC717686 | XP_001109440.1 | |
| Bos taurus (cattle) | CALM | NP_001159980.1 |
| Gallus gallus (chicken) | CALM1 | NP_001103834.1 |
| Oryza sativa (rice) | Os03g0319300 | NP_001049948.1 |
| Oryza sativa (rice) | Os07g0687200 | NP_001060691.1 |
| LOC698552 | XP_001087048.2 | |
| Arabidopsis thaliana (thale cress) | CAM7 | NP_189967.1 |
| Homo sapiens (human) | CALM1 | NP_008819.1 |
| Pan troglodytes (chimpanzee) | CALM2 | NP_001092028.1 |
| LOC716584 | XP_001112374.1 | |
| Magnaporthe oryzae (rice blast fungus) | MGG_16201 | XP_003709613.1 |
| Arabidopsis thaliana (thale cress) | CAM6 | NP_850860.1 |
| Arabidopsis thaliana (thale cress) | CAM3 | NP_191239.1 |
| Oryza sativa (rice) | Os01g0267900 | NP_001042688.2 |
| Pan troglodytes (chimpanzee) | CALM3 | XP_003316504.1 |
| Arabidopsis thaliana (thale cress) | CAM5 | NP_850097.1 |
| LOC715270 | XP_001113408.2 | |
| Schizosaccharomyces pombe (fission yeast) | cam1 | NP_593340.1 |
| Neurospora crassa | NCU04120 | XP_961276.2 |
Related articles in PubMed
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Yamamoto Y, Makiyama T, Harita T, Sasaki K, Wuriyanghai Y, Hayano M, Nishiuchi S, Kohjitani H, Hirose S, Chen J, Yokoi F, Ishikawa T, Ohno S, Chonabayashi K, Motomura H, Yoshida Y, Horie M, Makita N, Kimura T
Human molecular genetics26(9)1670-1677(2017 05)
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC
Circulation. Arrhythmia and electrophysiology9(8)(2016 Aug)
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, K??b S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr
Circulation. Cardiovascular genetics7(4)466-74(2014 Aug)
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
Nyegaard M, Overgaard MT, S?ndergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, B?rglum AD
American journal of human genetics91(4)703-12(2012 Oct)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
Authors successfully recapitulated the disease phenotypes of LQT15 and revealed that inactivation of LTCC currents was impaired in CALM2-N98S hiPSC model.
Title: Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Impaired Ca(2+)-dependent inactivation in human cardiomyocytes as the plausible mechanism for Long QT Syndrome associated with 2 novel CaM mutations.
Title: Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
the spectrum and prevalence of pathogenic CaM variants in a cohort of genetically elusive long QT syndrome, were determined.
Title: 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.
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
Title: Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
5 novel de novo CALM2 mutations in association with long-QT syndrome and exertioninduced arrhythmias.(p.N98S, p.N98I, p.D134H, p.D132E, p.Q136P)
Title: Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
The following CALM2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CALM2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu13807 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_001743.5 | |
| Accession Version | NM_001743.5 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 450bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | COA |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-29 | |
| Organism | Homo sapiens(human) | |
| Product | calmodulin-2 isoform 2 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY022313.1, BC017385.1 and AI873701.1. On Mar 24, 2015 this sequence version replaced NM_001743.4. Transcript Variant: This variant (2) lacks an exon in the 5' coding region, and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1, and is the same protein encoded by other calmodulin gene family members. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.101261.1, SRR1660805.49980.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCTGACC AACTGACTGA AGAGCAGATT GCAGAATTCA AAGAAGCTTT TTCACTATTT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001734.1 |
| CDS | 181..630 |
| Misc Feature(1) | 112..114 |
| Misc Feature(2) | 181..627 |
| Misc Feature(3) | 184..186 |
| Misc Feature(4) | 244..246 |
| Misc Feature(5) | 313..315 |
| Misc Feature(6) | 409..627 |
| Misc Feature(7) | 424..426 |
| Misc Feature(8) | 463..465 |
| Misc Feature(9) | 478..480 |
| Misc Feature(10) | 484..486 |
| Misc Feature(11) | 511..513 |
| Misc Feature(12) | 526..528 |
| Misc Feature(13) | 595..597 |
| Exon (1) | 1..183 |
| Exon (2) | 184..214 |
| Exon (3) | 215..358 |
| Exon (4) | 359..465 |
| Exon (5) | 466..601 |
| Exon (6) | 602..1324 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_001743.5 |
ORF Insert Sequence:
1 | ATGGCTGACC AACTGACTGA AGAGCAGATT GCAGAATTCA AAGAAGCTTT TTCACTATTT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu56609 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001305625.1 , NM_001305626.1 | |
| Accession Version | NM_001305625.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 342bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-29 | |
| Organism | Homo sapiens(human) | |
| Product | calmodulin-2 isoform 3 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY108355.1, BC017385.1 and AI873701.1. This sequence is a reference standard in the RefSeqGene project. Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.359172.1, HY108355.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGAGATCTC TTGGGCAGAA TCCCACAGAA GCAGAGTTAC AGGACATGAT TAATGAAGTA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001292554.1 |
| CDS | 194..535 |
| Misc Feature(1) | <194..532 |
| Exon (1) | 1..88 |
| Exon (2) | 89..119 |
| Exon (3) | 120..263 |
| Exon (4) | 264..370 |
| Exon (5) | 371..506 |
| Exon (6) | 507..1229 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001305625.1 |
ORF Insert Sequence:
1 | ATGAGATCTC TTGGGCAGAA TCCCACAGAA GCAGAGTTAC AGGACATGAT TAATGAAGTA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu56609 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001305625.1 , NM_001305626.1 | |
| Accession Version | NM_001305626.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 342bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-29 | |
| Organism | Homo sapiens(human) | |
| Product | calmodulin-2 isoform 3 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC073283.8, BC047553.1, BC017385.1 and AI873701.1. Transcript Variant: This variant (4) differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same protein. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC047553.1, SRR1803615.11318.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGAGATCTC TTGGGCAGAA TCCCACAGAA GCAGAGTTAC AGGACATGAT TAATGAAGTA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001292555.1 |
| CDS | 3549..3890 |
| Misc Feature(1) | 3441..3443 |
| Misc Feature(2) | <3549..3887 |
| Exon (1) | 1..3474 |
| Exon (2) | 3475..3618 |
| Exon (3) | 3619..3725 |
| Exon (4) | 3726..3861 |
| Exon (5) | 3862..4584 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001305626.1 |
ORF Insert Sequence:
1 | ATGAGATCTC TTGGGCAGAA TCCCACAGAA GCAGAGTTAC AGGACATGAT TAATGAAGTA |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu56608 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001305624.1 | |
| Accession Version | NM_001305624.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 594bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-12-29 | |
| Organism | Homo sapiens(human) | |
| Product | calmodulin-2 isoform 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY022313.1, BG563041.1, BC017385.1 and AI873701.1. Transcript Variant: This variant (1) encodes the longest isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.385094.1, ERR279833.3178.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGAGGCGCT GGGGGCGGAG GAGGCGAATT AGTCCGAGTG GAGAGAGCGA GCTGAGTGGT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001292553.1 |
| CDS | 83..676 |
| Misc Feature(1) | 230..673 |
| Misc Feature(2) | 260..448 |
| Misc Feature(3) | order(287..289,293..295,299..301,320..322,395..397,401..403,407..409,428..430) |
| Misc Feature(4) | 479..667 |
| Misc Feature(5) | order(506..508,512..514,518..520,539..541,614..616,620..622,626..628,647..649) |
| Exon (1) | 1..183 |
| Exon (2) | 184..229 |
| Exon (3) | 230..260 |
| Exon (4) | 261..404 |
| Exon (5) | 405..511 |
| Exon (6) | 512..647 |
| Exon (7) | 648..1370 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001305624.1 |
ORF Insert Sequence:
1 | ATGAGGCGCT GGGGGCGGAG GAGGCGAATT AGTCCGAGTG GAGAGAGCGA GCTGAGTGGT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. |
|
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. |
|
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. |
|
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. |