ENSG00000143933


Homo sapiens

Features
Gene ID: ENSG00000143933
  
Biological name :CALM2
  
Synonyms : CALM2 / calmodulin 2 / P0DP24
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p21
Gene start: 47160082
Gene end: 47176601
  
Corresponding Affymetrix probe sets: 207243_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000406112
Ensembl peptide - ENSP00000387065
Ensembl peptide - ENSP00000272298
Ensembl peptide - ENSP00000411440
Ensembl peptide - ENSP00000486952
NCBI entrez gene - 805     See in Manteia.
OMIM - 114182
RefSeq - NM_001305626
RefSeq - NM_001305624
RefSeq - NM_001305625
RefSeq - NM_001743
RefSeq Peptide - NP_001292553
RefSeq Peptide - NP_001734
RefSeq Peptide - NP_001292555
RefSeq Peptide - NP_001292554
swissprot - P0DP24
swissprot - B4DJ51
swissprot - E7EMB3
swissprot - F8WBR5
swissprot - H0Y7A7
swissprot - M0QZ52
Ensembl - ENSG00000143933
  
Related genetic diseases (OMIM): 616249 - Long QT syndrome 15, 616249
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CALM1ENSGALG00000026445Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CALM3 / P0DP25 / calmodulin 3ENSG00000160014100
CALM1 / P0DP23 / calmodulin 1ENSG00000198668100
CALML3 / P27482 / calmodulin like 3ENSG0000017836385
TNNC1 / P63316 / troponin C1, slow skeletal and cardiac typeENSG0000011485452
TNNC2 / P02585 / troponin C2, fast skeletal typeENSG0000010147052
CALML5 / Q9NZT1 / calmodulin like 5ENSG0000017837250
CALML6 / Q8TD86 / calmodulin like 6ENSG0000016988546
CALML4 / Q96GE6 / calmodulin like 4ENSG0000012900745
CABP2 / Q9NPB3 / calcium binding protein 2ENSG0000016779144
CABP4 / P57796 / calcium binding protein 4ENSG0000017554443
CABP5 / Q9NP86 / calcium binding protein 5ENSG0000010550743
CABP1 / Q9NZU7 / calcium binding protein 1ENSG0000015778242


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002027 regulation of heart rate IMP
 biological_processGO:0005513 detection of calcium ion IMP
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation TAS
 biological_processGO:0010801 negative regulation of peptidyl-threonine phosphorylation TAS
 biological_processGO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
 biological_processGO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0021762 substantia nigra development HEP
 biological_processGO:0030801 obsolete positive regulation of cyclic nucleotide metabolic process IDA
 biological_processGO:0030819 obsolete positive regulation of cAMP biosynthetic process IDA
 biological_processGO:0031954 positive regulation of protein autophosphorylation TAS
 biological_processGO:0032465 regulation of cytokinesis IMP
 biological_processGO:0032516 positive regulation of phosphoprotein phosphatase activity IDA
 biological_processGO:0035307 positive regulation of protein dephosphorylation IDA
 biological_processGO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity IDA
 biological_processGO:0051592 response to calcium ion IDA
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0060316 positive regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0071902 positive regulation of protein serine/threonine kinase activity TAS
 biological_processGO:1901844 regulation of cell communication by electrical coupling involved in cardiac conduction IC
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005876 spindle microtubule IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0030017 sarcomere IDA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0034704 calcium channel complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1902494 catalytic complex IDA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008179 adenylate cyclase binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0019855 calcium channel inhibitor activity IDA
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0031432 titin binding IPI
 molecular_functionGO:0031997 N-terminal myristoylation domain binding IPI
 molecular_functionGO:0043539 protein serine/threonine kinase activator activity TAS
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0072542 protein phosphatase activator activity IDA
 molecular_functionGO:0097718 disordered domain specific binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001645 Sudden cardiac death 
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001662 Bradycardia 
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 HP:0001695 Cardiac arrest 
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 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
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 HP:0004756 Ventricular tachycardia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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