CALM2 (calmodulin 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CALM2 (calmodulin 2) Homo sapiens
Analyze
Symbol: CALM2
Name: calmodulin 2
RGD ID: 736342
HGNC Page HGNC
Description: Enables several functions, including N-terminal myristoylation domain binding activity; enzyme activator activity; and enzyme binding activity. Involved in several processes, including positive regulation of hydrolase activity; regulation of calcium ion transmembrane transport; and regulation of heart contraction. Located in microtubule cytoskeleton and sarcomere. Part of calcium channel complex and catalytic complex. Implicated in long QT syndrome 15. Biomarker of major depressive disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CALM; CALM1; CALM3; CALML2; calmodulin; calmodulin 2 (phosphorylase kinase, delta); Calmodulin-1; calmodulin-2; Calmodulin-3; caM; CAM1; CAM3; CAMC; CAMII; CAMIII; FLJ99410; LP7057 protein; LQT15; PHKD; PHKD2; phosphorylase kinase delta; phosphorylase kinase subunit delta; prepro-calmodulin 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CALM2P1   CALM2P2   CALM2P3   CALM2P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl247,160,083 - 47,176,921 (-)EnsemblGRCh38hg38GRCh38
GRCh38247,160,082 - 47,176,936 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37247,387,221 - 47,404,075 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36247,240,809 - 47,257,154 (-)NCBINCBI36hg18NCBI36
Build 34247,298,955 - 47,315,301NCBI
Celera247,226,054 - 47,242,551 (-)NCBI
Cytogenetic Map2p21NCBI
HuRef247,124,359 - 47,140,853 (-)NCBIHuRef
CHM1_1247,317,465 - 47,333,922 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3,3'-diindolylmethane  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
aldehydo-D-glucose  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
butan-1-ol  (EXP)
cerium trichloride  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
clozapine  (ISO)
cocaine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
D-glucose  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diuron  (ISO)
ethanol  (EXP,ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (EXP)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
maneb  (ISO)
methotrexate  (EXP)
methylparaben  (EXP)
microcystin-LR  (ISO)
mifepristone  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
nitroglycerin  (ISO)
okadaic acid  (EXP)
ozone  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phencyclidine  (EXP)
phenobarbital  (EXP)
phenytoin  (EXP)
progesterone  (ISO)
risperidone  (ISO)
rotenone  (ISO)
sodium fluoride  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
tunicamycin  (EXP)
uranium atom  (EXP)
valproic acid  (EXP)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of adenylate cyclase activity  (IEA,ISO)
autophagosome membrane docking  (IDA)
calcium-mediated signaling  (IEA,ISO)
detection of calcium ion  (IMP)
establishment of protein localization to membrane  (ISO)
establishment of protein localization to mitochondrial membrane  (IEA)
G protein-coupled receptor signaling pathway  (TAS)
G2/M transition of mitotic cell cycle  (IEA,ISO)
mitochondrion-endoplasmic reticulum membrane tethering  (IDA)
negative regulation of calcium ion export across plasma membrane  (IEA,ISS)
negative regulation of calcium ion transmembrane transporter activity  (ISS)
negative regulation of high voltage-gated calcium channel activity  (IMP)
negative regulation of peptidyl-threonine phosphorylation  (TAS)
negative regulation of ryanodine-sensitive calcium-release channel activity  (IDA,ISS)
organelle localization by membrane tethering  (IDA)
phosphorylation  (IEA)
positive regulation of cyclic-nucleotide phosphodiesterase activity  (IDA)
positive regulation of DNA binding  (IEA)
positive regulation of nitric-oxide synthase activity  (IEA,ISO)
positive regulation of peptidyl-threonine phosphorylation  (TAS)
positive regulation of phosphoprotein phosphatase activity  (IDA)
positive regulation of protein autophosphorylation  (TAS)
positive regulation of protein dephosphorylation  (IDA)
positive regulation of protein serine/threonine kinase activity  (TAS)
positive regulation of ryanodine-sensitive calcium-release channel activity  (IBA,IDA)
regulation of calcium-mediated signaling  (IEA,ISS)
regulation of cardiac muscle cell action potential  (IMP)
regulation of cardiac muscle contraction  (IMP)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (IC)
regulation of cell communication by electrical coupling involved in cardiac conduction  (IC)
regulation of cyclase activity  (IEA)
regulation of cytokinesis  (IMP)
regulation of heart rate  (IMP)
regulation of high voltage-gated calcium channel activity  (ISO)
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  (IDA)
regulation of ryanodine-sensitive calcium-release channel activity  (IBA,IDA,ISO)
regulation of synaptic vesicle endocytosis  (IEA)
regulation of synaptic vesicle exocytosis  (IEA)
response to amphetamine  (IEA,ISO)
response to calcium ion  (IDA)
response to corticosterone  (IEA,ISO)
substantia nigra development  (HEP)

Cellular Component

References

Additional References at PubMed
PMID:2223880   PMID:2445749   PMID:3111527   PMID:7607248   PMID:8076819   PMID:8226798   PMID:8312049   PMID:8314583   PMID:8573130   PMID:8631777   PMID:8780394   PMID:8862395  
PMID:9096366   PMID:9242710   PMID:9278050   PMID:9282777   PMID:9362478   PMID:9658102   PMID:9681195   PMID:9923700   PMID:10075700   PMID:10416864   PMID:10625668   PMID:10692436  
PMID:10757985   PMID:10816571   PMID:10823944   PMID:10880439   PMID:10899953   PMID:11054265   PMID:11072229   PMID:11286509   PMID:11591728   PMID:11736632   PMID:11741295   PMID:11807546  
PMID:11807557   PMID:11847276   PMID:11953448   PMID:11981030   PMID:11984006   PMID:12032157   PMID:12034722   PMID:12051765   PMID:12153558   PMID:12189141   PMID:12221128   PMID:12477932  
PMID:12577052   PMID:12594225   PMID:12821674   PMID:14594800   PMID:14613930   PMID:14702039   PMID:14743216   PMID:14960328   PMID:14978283   PMID:15063758   PMID:15140941   PMID:15161933  
PMID:15225611   PMID:15342556   PMID:15632291   PMID:15719022   PMID:15723066   PMID:15757646   PMID:16051665   PMID:16127172   PMID:16169070   PMID:16189514   PMID:16229872   PMID:16299511  
PMID:16338416   PMID:16478480   PMID:16505387   PMID:16512683   PMID:16545345   PMID:16760425   PMID:16799092   PMID:17046994   PMID:17189291   PMID:17202341   PMID:17353931   PMID:17568776  
PMID:17582331   PMID:17620599   PMID:17687619   PMID:17719545   PMID:18370588   PMID:18553937   PMID:18567582   PMID:18570893   PMID:18694559   PMID:18786401   PMID:18940602   PMID:19190083  
PMID:19279214   PMID:19584346   PMID:19632986   PMID:19651602   PMID:19855925   PMID:19913121   PMID:20000738   PMID:20012528   PMID:20029029   PMID:20103772   PMID:20198394   PMID:20226167  
PMID:20301308   PMID:20379146   PMID:20379614   PMID:20458337   PMID:20466722   PMID:20618440   PMID:20628086   PMID:20668654   PMID:20708613   PMID:20876399   PMID:20953164   PMID:20956522  
PMID:21047202   PMID:21078624   PMID:21145461   PMID:21167176   PMID:21299499   PMID:21546767   PMID:21565611   PMID:21602787   PMID:21630459   PMID:21726808   PMID:21799007   PMID:21873635  
PMID:21988832   PMID:22067155   PMID:22323446   PMID:22331908   PMID:22405011   PMID:22633975   PMID:22705208   PMID:22926577   PMID:22939629   PMID:23040497   PMID:23077317   PMID:23349634  
PMID:23376485   PMID:23388215   PMID:23446637   PMID:23798571   PMID:23893133   PMID:24658140   PMID:24917665   PMID:25232683   PMID:25268113   PMID:25416956   PMID:25437912   PMID:25441029  
PMID:25640309   PMID:25703379   PMID:25737280   PMID:25959826   PMID:25963833   PMID:26164367   PMID:26618866   PMID:26638075   PMID:26969752   PMID:27100291   PMID:27165696   PMID:27173435  
PMID:27374306   PMID:27516456   PMID:27545878   PMID:27609421   PMID:27880917   PMID:28335032   PMID:29128334   PMID:29724949   PMID:29932249   PMID:30110629   PMID:30317608   PMID:30354306  
PMID:31741433   PMID:32041737   PMID:32296183   PMID:32814053   PMID:33194618   PMID:33788723  


Genomics

Comparative Map Data
CALM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl247,160,083 - 47,176,921 (-)EnsemblGRCh38hg38GRCh38
GRCh38247,160,082 - 47,176,936 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37247,387,221 - 47,404,075 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36247,240,809 - 47,257,154 (-)NCBINCBI36hg18NCBI36
Build 34247,298,955 - 47,315,301NCBI
Celera247,226,054 - 47,242,551 (-)NCBI
Cytogenetic Map2p21NCBI
HuRef247,124,359 - 47,140,853 (-)NCBIHuRef
CHM1_1247,317,465 - 47,333,922 (-)NCBICHM1_1
Calm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391787,740,829 - 87,754,363 (-)NCBIGRCm39mm39
GRCm39 Ensembl1787,740,840 - 87,754,363 (-)Ensembl
GRCm381787,433,401 - 87,446,935 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12100,199,435 - 100,209,814 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1787,433,412 - 87,446,935 (-)EnsemblGRCm38mm10GRCm38
MGSCv371787,832,741 - 87,846,275 (-)NCBIGRCm37mm9NCBIm37
MGSCv361787,341,743 - 87,355,168 (-)NCBImm8
Celera1791,831,455 - 91,844,939 (-)NCBICelera
Cytogenetic Map17E4NCBI
Calm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.267,091,624 - 7,104,284 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl67,091,567 - 7,104,287 (+)Ensembl
Rnor_6.0611,067,675 - 11,080,078 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1565,506,874 - 65,507,968 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0621,052,945 - 21,068,133 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4664,161,641 - 64,162,751 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11564,177,420 - 64,178,531 (-)NCBI
Celera66,842,934 - 6,855,590 (+)NCBICelera
Cytogenetic Map6q12NCBI
Calm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544113,973,147 - 13,988,665 (-)NCBIChiLan1.0ChiLan1.0
CALM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A48,204,518 - 48,220,697 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A48,204,518 - 48,220,697 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A47,274,722 - 47,290,861 (-)NCBIMhudiblu_PPA_v0panPan3
CALM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11049,299,698 - 49,314,533 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1049,299,897 - 49,314,457 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1049,152,937 - 49,167,816 (-)NCBI
ROS_Cfam_1.01050,169,941 - 50,184,842 (-)NCBI
UMICH_Zoey_3.11049,877,637 - 49,892,535 (-)NCBI
UNSW_CanFamBas_1.01050,167,136 - 50,182,012 (-)NCBI
UU_Cfam_GSD_1.01050,351,274 - 50,366,152 (-)NCBI
Calm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629233,779,344 - 33,795,171 (+)NCBI
SpeTri2.0NW_0049365085,207,909 - 5,223,780 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CALM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl393,372,045 - 93,438,068 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1393,371,765 - 93,386,378 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2399,567,552 - 99,582,160 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CALM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11460,027,884 - 60,042,041 (+)NCBI
ChlSab1.1 Ensembl1460,027,801 - 60,044,951 (+)Ensembl
ChlSab1.1 Ensembl639,957,320 - 39,966,581 (+)Ensembl
ChlSab1.1 Ensembl2468,133,428 - 68,145,180 (+)Ensembl
Vero_WHO_p1.0NW_02366604551,803,526 - 51,818,114 (-)NCBI
Calm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473828,525,290 - 28,541,562 (-)NCBI

Position Markers
GDB:193857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37247,387,613 - 47,387,718UniSTSGRCh37
GRCh371768,238,108 - 68,238,211UniSTSGRCh37
Build 36247,241,117 - 47,241,222RGDNCBI36
Celera247,226,446 - 47,226,551RGD
Celera1764,809,887 - 64,809,990UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q24.3UniSTS
HuRef247,124,751 - 47,124,856UniSTS
RH125634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37247,403,810 - 47,404,113UniSTSGRCh37
Build 36247,257,314 - 47,257,617RGDNCBI36
Celera247,242,621 - 47,242,924RGD
Cytogenetic Map2p21UniSTS
HuRef247,140,923 - 47,141,226UniSTS
SHGC-30221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37247,402,248 - 47,402,399UniSTSGRCh37
Build 36247,255,752 - 47,255,903RGDNCBI36
Celera247,241,059 - 47,241,210RGD
Cytogenetic Map2p21UniSTS
HuRef247,139,361 - 47,139,512UniSTS
TNG Radiation Hybrid Map210834.0UniSTS
GeneMap99-GB4 RH Map2135.97UniSTS
Whitehead-RH Map2206.5UniSTS
NCBI RH Map2307.9UniSTS
GeneMap99-G3 RH Map21981.0UniSTS
WI-9106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37247,387,534 - 47,387,651UniSTSGRCh37
Build 36247,241,038 - 47,241,155RGDNCBI36
Celera247,226,367 - 47,226,484RGD
Cytogenetic Map2p21UniSTS
HuRef247,124,672 - 47,124,789UniSTS
Whitehead-YAC Contig Map2 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1806
Count of miRNA genes:832
Interacting mature miRNAs:982
Transcripts:ENST00000272298, ENST00000409563, ENST00000432899, ENST00000456319, ENST00000460218, ENST00000464527, ENST00000482532, ENST00000482548, ENST00000484408, ENST00000489742, ENST00000496939
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI873701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG563041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP370358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY022313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY108355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000272298   ⟹   ENSP00000272298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,084 - 47,176,511 (-)Ensembl
RefSeq Acc Id: ENST00000409563   ⟹   ENSP00000387065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,739 - 47,176,511 (-)Ensembl
RefSeq Acc Id: ENST00000432899   ⟹   ENSP00000406112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,172 - 47,176,500 (-)Ensembl
RefSeq Acc Id: ENST00000456319   ⟹   ENSP00000411440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,180 - 47,176,516 (-)Ensembl
RefSeq Acc Id: ENST00000460218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,164 - 47,174,207 (-)Ensembl
RefSeq Acc Id: ENST00000482532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,602 - 47,163,963 (-)Ensembl
RefSeq Acc Id: ENST00000484408   ⟹   ENSP00000499468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,161,723 - 47,176,453 (-)Ensembl
RefSeq Acc Id: ENST00000489742   ⟹   ENSP00000499354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,162,286 - 47,176,470 (-)Ensembl
RefSeq Acc Id: ENST00000628793   ⟹   ENSP00000486952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,083 - 47,176,601 (-)Ensembl
RefSeq Acc Id: ENST00000652974   ⟹   ENSP00000499369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,164 - 47,176,623 (-)Ensembl
RefSeq Acc Id: ENST00000654798   ⟹   ENSP00000499797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,083 - 47,176,601 (-)Ensembl
RefSeq Acc Id: ENST00000655450   ⟹   ENSP00000499266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,170 - 47,176,921 (-)Ensembl
RefSeq Acc Id: ENST00000655728   ⟹   ENSP00000499656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,339 - 47,176,223 (-)Ensembl
RefSeq Acc Id: ENST00000656538   ⟹   ENSP00000499357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,205 - 47,176,511 (-)Ensembl
RefSeq Acc Id: ENST00000668667   ⟹   ENSP00000499706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,205 - 47,175,539 (-)Ensembl
RefSeq Acc Id: ENST00000670593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl247,160,205 - 47,164,219 (-)Ensembl
RefSeq Acc Id: NM_001305624   ⟹   NP_001292553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38247,160,082 - 47,176,623 (-)NCBI
CHM1_1247,317,465 - 47,333,944 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001305625   ⟹   NP_001292554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38247,160,084 - 47,176,936 (-)NCBI
CHM1_1247,317,465 - 47,334,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001305626   ⟹   NP_001292555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38247,160,082 - 47,174,207 (-)NCBI
CHM1_1247,317,465 - 47,331,528 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001743   ⟹   NP_001734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38247,160,084 - 47,176,511 (-)NCBI
GRCh37247,387,221 - 47,404,229 (-)NCBI
Build 36247,240,809 - 47,257,154 (-)NCBI Archive
HuRef247,124,359 - 47,140,853 (-)ENTREZGENE
CHM1_1247,317,465 - 47,333,944 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001734   ⟸   NM_001743
- Peptide Label: isoform 2
- UniProtKB: P0DP25 (UniProtKB/Swiss-Prot),   P0DP24 (UniProtKB/Swiss-Prot),   P0DP23 (UniProtKB/Swiss-Prot),   B4DJ51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292554   ⟸   NM_001305625
- Peptide Label: isoform 3
- UniProtKB: P0DP24 (UniProtKB/Swiss-Prot),   Q96HY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292553   ⟸   NM_001305624
- Peptide Label: isoform 1
- UniProtKB: P0DP24 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001292555   ⟸   NM_001305626
- Peptide Label: isoform 3
- UniProtKB: P0DP24 (UniProtKB/Swiss-Prot),   Q96HY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000499369   ⟸   ENST00000652974
RefSeq Acc Id: ENSP00000411440   ⟸   ENST00000456319
RefSeq Acc Id: ENSP00000486952   ⟸   ENST00000628793
RefSeq Acc Id: ENSP00000499706   ⟸   ENST00000668667
RefSeq Acc Id: ENSP00000272298   ⟸   ENST00000272298
RefSeq Acc Id: ENSP00000499797   ⟸   ENST00000654798
RefSeq Acc Id: ENSP00000499656   ⟸   ENST00000655728
RefSeq Acc Id: ENSP00000499266   ⟸   ENST00000655450
RefSeq Acc Id: ENSP00000499468   ⟸   ENST00000484408
RefSeq Acc Id: ENSP00000499357   ⟸   ENST00000656538
RefSeq Acc Id: ENSP00000406112   ⟸   ENST00000432899
RefSeq Acc Id: ENSP00000387065   ⟸   ENST00000409563
RefSeq Acc Id: ENSP00000499354   ⟸   ENST00000489742
Protein Domains
EF-hand

Promoters
RGD ID:6860254
Promoter ID:EPDNEW_H3292
Type:initiation region
Name:CALM2_1
Description:calmodulin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38247,176,511 - 47,176,571EPDNEW
RGD ID:6796926
Promoter ID:HG_KWN:32549
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000258142
Position:
Human AssemblyChrPosition (strand)Source
Build 36247,243,519 - 47,244,019 (-)MPROMDB
RGD ID:6796925
Promoter ID:HG_KWN:32550
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000258141
Position:
Human AssemblyChrPosition (strand)Source
Build 36247,251,386 - 47,255,802 (-)MPROMDB
RGD ID:6796932
Promoter ID:HG_KWN:32551
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409563,   OTTHUMT00000250789,   OTTHUMT00000327771,   OTTHUMT00000327772,   OTTHUMT00000327774,   OTTHUMT00000327775,   UC010FBE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36247,256,996 - 47,257,617 (-)MPROMDB
RGD ID:6851850
Promoter ID:EP73731
Type:multiple initiation site
Name:HS_CALM2
Description:Calmodulin 2 (phosphorylase kinase, delta).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36247,257,154 - 47,257,214EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001743.6(CALM2):c.179-8C>G single nucleotide variant Congenital long QT syndrome [RCV000529499]|not provided [RCV000786283] Chr2:47162400 [GRCh38]
Chr2:47389539 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn) single nucleotide variant Long QT syndrome 1 [RCV000532708]|Long QT syndrome 15 [RCV000523452] Chr2:47161744 [GRCh38]
Chr2:47388883 [GRCh37]
Chr2:2p21
likely pathogenic|uncertain significance
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) single nucleotide variant Inborn genetic diseases [RCV000624723]|Long QT syndrome 1 [RCV000544269] Chr2:47161816 [GRCh38]
Chr2:47388955 [GRCh37]
Chr2:2p21
likely pathogenic|uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) single nucleotide variant Congenital long QT syndrome [RCV001388081]|Long QT syndrome 1 [RCV000143836]|Long QT syndrome 15 [RCV000162067] Chr2:47161851 [GRCh38]
Chr2:47388990 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) single nucleotide variant Long QT syndrome 1 [RCV000143837]|Long QT syndrome 15 [RCV000162068] Chr2:47161851 [GRCh38]
Chr2:47388990 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) single nucleotide variant Long QT syndrome 1 [RCV000143838]|Long QT syndrome 15 [RCV000162069] Chr2:47161748 [GRCh38]
Chr2:47388887 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_001743.6(CALM2):c.400G>C (p.Asp134His) single nucleotide variant Long QT syndrome 1 [RCV000143839]|Long QT syndrome 15 [RCV000162066] Chr2:47161744 [GRCh38]
Chr2:47388883 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) single nucleotide variant Long QT syndrome 1 [RCV000143840]|Long QT syndrome 15 [RCV000162070] Chr2:47161737 [GRCh38]
Chr2:47388876 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1 copy number loss See cases [RCV000133939] Chr2:46806218..50565538 [GRCh38]
Chr2:47033357..50792676 [GRCh37]
Chr2:46886861..50646180 [NCBI36]
Chr2:2p21-16.3
pathogenic
GRCh38/hg38 2p21(chr2:46592232-47488001)x3 copy number gain See cases [RCV000137575] Chr2:46592232..47488001 [GRCh38]
Chr2:46819371..47715140 [GRCh37]
Chr2:46672875..47568644 [NCBI36]
Chr2:2p21
likely benign
GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3 copy number gain See cases [RCV000139665] Chr2:47089663..48479681 [GRCh38]
Chr2:47316802..48706820 [GRCh37]
Chr2:47170306..48560324 [NCBI36]
Chr2:2p21-16.3
likely pathogenic
GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3 copy number gain See cases [RCV000141883] Chr2:46415109..48203207 [GRCh38]
Chr2:46642248..48430346 [GRCh37]
Chr2:46495752..48283850 [NCBI36]
Chr2:2p21-16.3
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
NM_001743.6(CALM2):c.287A>T (p.Asp96Val) single nucleotide variant Long QT syndrome 15 [RCV000162065]|not provided [RCV001547926] Chr2:47161857 [GRCh38]
Chr2:47388996 [GRCh37]
Chr2:2p21
pathogenic
NM_001743.6(CALM2):c.240A>T (p.Thr80=) single nucleotide variant Long QT syndrome 1 [RCV000231013]|not specified [RCV000600856] Chr2:47162331 [GRCh38]
Chr2:47389470 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.243C>T (p.Asp81=) single nucleotide variant Long QT syndrome 1 [RCV000227377]|not specified [RCV000608524] Chr2:47162328 [GRCh38]
Chr2:47389467 [GRCh37]
Chr2:2p21
benign|likely benign
NM_001743.6(CALM2):c.179-9C>T single nucleotide variant Congenital long QT syndrome [RCV001413008]|not provided [RCV000865233]|not specified [RCV000600192] Chr2:47162401 [GRCh38]
Chr2:47389540 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.-30C>A single nucleotide variant not specified [RCV000600667] Chr2:47176473 [GRCh38]
Chr2:47403612 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.-46T>G single nucleotide variant not specified [RCV000601088] Chr2:47176489 [GRCh38]
Chr2:47403628 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.3+145C>T single nucleotide variant not provided [RCV001546551] Chr2:47176296 [GRCh38]
Chr2:47403435 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.33A>G (p.Ala11=) single nucleotide variant Congenital long QT syndrome [RCV001367557] Chr2:47170735 [GRCh38]
Chr2:47397874 [GRCh37]
Chr2:2p21
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001743.6(CALM2):c.178+15T>C single nucleotide variant not specified [RCV000600011] Chr2:47162504 [GRCh38]
Chr2:47389643 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
NM_001743.6(CALM2):c.421+18A>G single nucleotide variant not specified [RCV000417574] Chr2:47161705 [GRCh38]
Chr2:47388844 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.285+16G>C single nucleotide variant not specified [RCV000442992] Chr2:47162270 [GRCh38]
Chr2:47389409 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001743.6(CALM2):c.286-18_286-17del microsatellite not specified [RCV000485742] Chr2:47161875..47161876 [GRCh38]
Chr2:47389014..47389015 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.422-15CTT[2] microsatellite Congenital long QT syndrome [RCV001088043]|not provided [RCV000469464]|not specified [RCV000603313] Chr2:47160811..47160813 [GRCh38]
Chr2:47387950..47387952 [GRCh37]
Chr2:2p21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001743.6(CALM2):c.348G>A (p.Lys116=) single nucleotide variant Congenital long QT syndrome [RCV000554409]|not specified [RCV000603499] Chr2:47161796 [GRCh38]
Chr2:47388935 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.79A>T (p.Thr27Ser) single nucleotide variant not provided [RCV000493725] Chr2:47162618 [GRCh38]
Chr2:47389757 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.11:g.38121110_47669522inv inversion Lynch syndrome [RCV000494356] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001743.6(CALM2):c.4-10C>T single nucleotide variant Long QT syndrome 1 [RCV000542892] Chr2:47170774 [GRCh38]
Chr2:47397913 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) single nucleotide variant Long QT syndrome 15 [RCV000578313] Chr2:47161730 [GRCh38]
Chr2:47388869 [GRCh37]
Chr2:2p21
pathogenic
NM_001743.6(CALM2):c.157A>G (p.Ile53Val) single nucleotide variant Long QT syndrome 1 [RCV000555733] Chr2:47162540 [GRCh38]
Chr2:47389679 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.285+16G>T single nucleotide variant not specified [RCV000610321] Chr2:47162270 [GRCh38]
Chr2:47389409 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.-16C>T single nucleotide variant not specified [RCV000616379] Chr2:47176459 [GRCh38]
Chr2:47403598 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.-11G>A single nucleotide variant not specified [RCV000607991] Chr2:47176454 [GRCh38]
Chr2:47403593 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.421+10T>G single nucleotide variant Long QT syndrome 1 [RCV000557549]|not provided [RCV000842552] Chr2:47161713 [GRCh38]
Chr2:47388852 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.-33G>A single nucleotide variant not specified [RCV000603613] Chr2:47176476 [GRCh38]
Chr2:47403615 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p21(chr2:47280431-47714665)x1 copy number loss See cases [RCV000512444] Chr2:47280431..47714665 [GRCh37]
Chr2:2p21
pathogenic
GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1 copy number loss See cases [RCV000512533] Chr2:47361260..54934153 [GRCh37]
Chr2:2p21-16.2
pathogenic
GRCh37/hg19 2p21-16.3(chr2:46978055-48131152)x3 copy number gain not provided [RCV000682118] Chr2:46978055..48131152 [GRCh37]
Chr2:2p21-16.3
uncertain significance
GRCh37/hg19 2p21(chr2:46557702-47744377)x3 copy number gain not provided [RCV000682119] Chr2:46557702..47744377 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.286-10T>A single nucleotide variant Long QT syndrome 1 [RCV000698876] Chr2:47161868 [GRCh38]
Chr2:47389007 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.434T>G (p.Met145Arg) single nucleotide variant Long QT syndrome 1 [RCV000698791] Chr2:47160792 [GRCh38]
Chr2:47387931 [GRCh37]
Chr2:2p21
likely pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001743.6(CALM2):c.247G>A (p.Glu83Lys) single nucleotide variant Congenital long QT syndrome [RCV001059135] Chr2:47162324 [GRCh38]
Chr2:47389463 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.123G>A (p.Gly41=) single nucleotide variant Congenital long QT syndrome [RCV001418911]|not provided [RCV000937102] Chr2:47162574 [GRCh38]
Chr2:47389713 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.285+19A>C single nucleotide variant not provided [RCV000827422] Chr2:47162267 [GRCh38]
Chr2:47389406 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.421+96T>C single nucleotide variant Long QT syndrome 15 [RCV001554798]|not provided [RCV000833935] Chr2:47161627 [GRCh38]
Chr2:47388766 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.421+97G>C single nucleotide variant Long QT syndrome 15 [RCV001554797]|not provided [RCV000833936] Chr2:47161626 [GRCh38]
Chr2:47388765 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.4-232G>A single nucleotide variant not provided [RCV000838321] Chr2:47170996 [GRCh38]
Chr2:47398135 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.414C>A (p.Asn138Lys) single nucleotide variant Congenital long QT syndrome [RCV000805358] Chr2:47161730 [GRCh38]
Chr2:47388869 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.35-257A>G single nucleotide variant not provided [RCV000843447] Chr2:47162919 [GRCh38]
Chr2:47390058 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.35-41A>G single nucleotide variant not provided [RCV000838696] Chr2:47162703 [GRCh38]
Chr2:47389842 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.379A>G (p.Arg127Gly) single nucleotide variant Congenital long QT syndrome [RCV000805725] Chr2:47161765 [GRCh38]
Chr2:47388904 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.34+121_34+122del microsatellite not provided [RCV000839350] Chr2:47170612..47170613 [GRCh38]
Chr2:47397751..47397752 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.421+96_421+97del deletion not provided [RCV000833937] Chr2:47161626..47161627 [GRCh38]
Chr2:47388765..47388766 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.35-225G>A single nucleotide variant not provided [RCV000838042] Chr2:47162887 [GRCh38]
Chr2:47390026 [GRCh37]
Chr2:2p21
benign
NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr) single nucleotide variant Congenital long QT syndrome [RCV000794810] Chr2:47161858 [GRCh38]
Chr2:47388997 [GRCh37]
Chr2:2p21
uncertain significance
NC_000002.12:g.47161713A>C single nucleotide variant not provided [RCV000842552] Chr2:47388852 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p21(chr2:46179259-47646894)x3 copy number gain not provided [RCV001005255] Chr2:46179259..47646894 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) single nucleotide variant Congenital long QT syndrome [RCV001246018] Chr2:47162593 [GRCh38]
Chr2:47389732 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) single nucleotide variant Congenital long QT syndrome [RCV001237179]|Long QT syndrome 15 [RCV001003503] Chr2:47161755 [GRCh38]
Chr2:47388894 [GRCh37]
Chr2:2p21
pathogenic|likely pathogenic
NM_001743.6(CALM2):c.319C>T (p.Arg107Cys) single nucleotide variant Congenital long QT syndrome [RCV001228836] Chr2:47161825 [GRCh38]
Chr2:47388964 [GRCh37]
Chr2:2p21
uncertain significance
NM_001305625.2(CALM2):c.-106+96G>A single nucleotide variant not provided [RCV001549694] Chr2:47176753 [GRCh38]
Chr2:47403892 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.3+10T>C single nucleotide variant not provided [RCV000861707] Chr2:47176431 [GRCh38]
Chr2:47403570 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) single nucleotide variant Congenital long QT syndrome [RCV001228190] Chr2:47161749 [GRCh38]
Chr2:47388888 [GRCh37]
Chr2:2p21
pathogenic
NM_001743.6(CALM2):c.3+9A>C single nucleotide variant Congenital long QT syndrome [RCV000934530] Chr2:47176432 [GRCh38]
Chr2:47403571 [GRCh37]
Chr2:2p21
likely benign
NM_001305625.2(CALM2):c.-186A>G single nucleotide variant not provided [RCV001562183] Chr2:47176929 [GRCh38]
Chr2:47404068 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.285+5G>A single nucleotide variant Congenital long QT syndrome [RCV001217670] Chr2:47162281 [GRCh38]
Chr2:47389420 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.421+3A>G single nucleotide variant Congenital long QT syndrome [RCV001347907] Chr2:47161720 [GRCh38]
Chr2:47388859 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.413_416dup (p.Tyr139Ter) duplication Congenital long QT syndrome [RCV001299433] Chr2:47161727..47161728 [GRCh38]
Chr2:47388866..47388867 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.203A>C (p.Glu68Ala) single nucleotide variant Congenital long QT syndrome [RCV001338494] Chr2:47162368 [GRCh38]
Chr2:47389507 [GRCh37]
Chr2:2p21
uncertain significance
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser) single nucleotide variant Congenital long QT syndrome [RCV001378324] Chr2:47161747 [GRCh38]
Chr2:47388886 [GRCh37]
Chr2:2p21
likely pathogenic
NM_001743.6(CALM2):c.336C>T (p.Asn112=) single nucleotide variant Congenital long QT syndrome [RCV001471567] Chr2:47161808 [GRCh38]
Chr2:47388947 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.179-29_179-10del deletion Congenital long QT syndrome [RCV001431502] Chr2:47162402..47162421 [GRCh38]
Chr2:47389541..47389560 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.261A>G (p.Arg87=) single nucleotide variant Congenital long QT syndrome [RCV001458015] Chr2:47162310 [GRCh38]
Chr2:47389449 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.429A>G (p.Val143=) single nucleotide variant Congenital long QT syndrome [RCV001451403] Chr2:47160797 [GRCh38]
Chr2:47387936 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.63C>T (p.Asp21=) single nucleotide variant Congenital long QT syndrome [RCV001484931] Chr2:47162634 [GRCh38]
Chr2:47389773 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.57A>G (p.Leu19=) single nucleotide variant Congenital long QT syndrome [RCV001466593] Chr2:47162640 [GRCh38]
Chr2:47389779 [GRCh37]
Chr2:2p21
likely benign
NM_001743.6(CALM2):c.165A>G (p.Glu55=) single nucleotide variant Congenital long QT syndrome [RCV001425034] Chr2:47162532 [GRCh38]
Chr2:47389671 [GRCh37]
Chr2:2p21
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1445 AgrOrtholog
COSMIC CALM2 COSMIC
Ensembl Genes ENSG00000143933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000160014 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000198668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000272298 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000291295 UniProtKB/Swiss-Prot
  ENSP00000349467 UniProtKB/Swiss-Prot
  ENSP00000375785 UniProtKB/TrEMBL
  ENSP00000387065 UniProtKB/TrEMBL
  ENSP00000403491 UniProtKB/TrEMBL
  ENSP00000406112 UniProtKB/TrEMBL
  ENSP00000411440 UniProtKB/TrEMBL
  ENSP00000442853 UniProtKB/TrEMBL
  ENSP00000450829 UniProtKB/TrEMBL
  ENSP00000468877 UniProtKB/TrEMBL
  ENSP00000470308 UniProtKB/TrEMBL
  ENSP00000470502 UniProtKB/TrEMBL
  ENSP00000471225 UniProtKB/TrEMBL
  ENSP00000472141 UniProtKB/Swiss-Prot
  ENSP00000486402 UniProtKB/TrEMBL
  ENSP00000486952 UniProtKB/TrEMBL
  ENSP00000499266 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499354 UniProtKB/TrEMBL
  ENSP00000499357 UniProtKB/TrEMBL
  ENSP00000499369 UniProtKB/TrEMBL
  ENSP00000499421 UniProtKB/TrEMBL
  ENSP00000499468 UniProtKB/TrEMBL
  ENSP00000499498 UniProtKB/TrEMBL
  ENSP00000499656 UniProtKB/TrEMBL
  ENSP00000499706 UniProtKB/TrEMBL
Ensembl Transcript ENST00000272298 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000291295 UniProtKB/Swiss-Prot
  ENST00000356978 UniProtKB/Swiss-Prot
  ENST00000391918 UniProtKB/TrEMBL
  ENST00000409563 UniProtKB/TrEMBL
  ENST00000432899 UniProtKB/TrEMBL
  ENST00000447653 UniProtKB/TrEMBL
  ENST00000456319 UniProtKB/TrEMBL
  ENST00000460218 ENTREZGENE
  ENST00000484408 UniProtKB/TrEMBL
  ENST00000489742 UniProtKB/TrEMBL
  ENST00000544280 UniProtKB/TrEMBL
  ENST00000553542 UniProtKB/TrEMBL
  ENST00000594523 UniProtKB/TrEMBL
  ENST00000596362 UniProtKB/Swiss-Prot
  ENST00000597743 UniProtKB/TrEMBL
  ENST00000598871 UniProtKB/TrEMBL
  ENST00000599839 UniProtKB/TrEMBL
  ENST00000626705 UniProtKB/TrEMBL
  ENST00000628793 UniProtKB/TrEMBL
  ENST00000652974 UniProtKB/TrEMBL
  ENST00000655450 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000655728 UniProtKB/TrEMBL
  ENST00000656538 UniProtKB/TrEMBL
  ENST00000659177 UniProtKB/TrEMBL
  ENST00000663135 UniProtKB/TrEMBL
  ENST00000668667 UniProtKB/TrEMBL
GTEx ENSG00000143933 GTEx
  ENSG00000160014 GTEx
  ENSG00000198668 GTEx
HGNC ID HGNC:1445 ENTREZGENE
Human Proteome Map CALM2 Human Proteome Map
InterPro Calmodulin UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:801 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:805 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hsa:808 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 805 ENTREZGENE
OMIM 114182 OMIM
  616249 OMIM
PANTHER PTHR23050:SF401 UniProtKB/TrEMBL
Pfam EF-hand_1 UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/TrEMBL
PharmGKB PA26038 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJC0_HUMAN UniProtKB/TrEMBL
  A0A590UJE2_HUMAN UniProtKB/TrEMBL
  A0A590UJI2_HUMAN UniProtKB/TrEMBL
  B4DJ51 ENTREZGENE, UniProtKB/TrEMBL
  CALM1_HUMAN UniProtKB/Swiss-Prot
  CALM2_HUMAN UniProtKB/Swiss-Prot
  CALM3_HUMAN UniProtKB/Swiss-Prot
  E7EMB3_HUMAN UniProtKB/TrEMBL
  F8WBR5_HUMAN UniProtKB/TrEMBL
  M0QZ52_HUMAN UniProtKB/TrEMBL
  P0DP23 ENTREZGENE
  P0DP24 ENTREZGENE
  P0DP25 ENTREZGENE
  Q96HY3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D6W5B3 UniProtKB/TrEMBL
  E7ETZ0 UniProtKB/TrEMBL
  H0Y7A7 UniProtKB/TrEMBL
  P02593 UniProtKB/Swiss-Prot
  P62158 UniProtKB/Swiss-Prot
  P70667 UniProtKB/Swiss-Prot
  P99014 UniProtKB/Swiss-Prot
  Q13942 UniProtKB/Swiss-Prot
  Q53S29 UniProtKB/Swiss-Prot
  Q61379 UniProtKB/Swiss-Prot
  Q61380 UniProtKB/Swiss-Prot
  Q96HK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 CALM2  calmodulin 2    calmodulin 2 (phosphorylase kinase, delta)  Symbol and/or name change 5135510 APPROVED