ENSMUSG00000027474


Mus musculus

Features
Gene ID: ENSMUSG00000027474
  
Biological name :Ccm2l
  
Synonyms : Ccm2l / Cerebral cavernous malformations 2 protein-like / Q8VCC6
  
Possible biological names infered from orthology : CCM2 like scaffolding protein / Q9NUG4
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: H1
Gene start: 153065955
Gene end: 153081735
  
Corresponding Affymetrix probe sets: 10477237 (MoGene1.0st)   1435599_at (Mouse Genome 430 2.0 Array)   1435600_s_at (Mouse Genome 430 2.0 Array)   1460382_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000105425
Ensembl peptide - ENSMUSP00000122732
NCBI entrez gene - 228788     See in Manteia.
MGI - MGI:2385159
RefSeq - XM_011239482
RefSeq - NM_145536
RefSeq - XM_006499325
RefSeq - XM_006499326
RefSeq - XM_006499328
RefSeq Peptide - NP_663511
swissprot - Q8VCC6
swissprot - A2ATH4
Ensembl - ENSMUSG00000027474
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ccm2lENSDARG00000063089Danio rerio
 CCM2LENSGALG00000006479Gallus gallus
 CCM2LENSG00000101331Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ccm2 / Q8K2Y9 / Cerebral cavernous malformations / Q9BSQ5* / CCM2 scaffolding protein*ENSMUSG0000000037827


Protein motifs (from Interpro)
Interpro ID Name
 IPR011993  PH-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003209 cardiac atrium morphogenesis IGI
 biological_processGO:0003222 ventricular trabecula myocardium morphogenesis IGI
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0034111 negative regulation of homotypic cell-cell adhesion IDA
 biological_processGO:0042060 wound healing IMP
 biological_processGO:0055017 cardiac muscle tissue growth IGI
 biological_processGO:0090271 positive regulation of fibroblast growth factor production IGI
 cellular_componentGO:0005575 cellular_component ND
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000295 poorly developed ventricular trabeculae "retarded differentation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [J:29971]
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Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0001273 decreased metastatic potential 
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Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0002908 delayed wound healing "longer time requirement for the ability to self-repair and close wounds than normal" [J:63037]
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Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0003447 reduced tumor growth/size "less than expected development of tumorous growth when compared to controls" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:65383]
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Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0009764 decreased sensitivity to induced morbidity/mortality "increase in the amount of an external agent required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0010144 abnormal tumor vascularization "aberrant process of blood vessel formation and the subsequent remodeling process within and/or around tumors" [MGI:mnk "Michelle Knowlton, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Usp46Gt(pU17)1Imeg/Usp46Gt(pU17)1Imeg
Genetic Background: B6.Cg-Usp46Gt(pU17)1Imeg

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Ccm2tm1Mlkn/Ccm2+,Heg1tm1Mlkn/Heg1tm2.1Mlkn,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0011395 decreased fetal cardiomyocyte proliferation "reduced ability of the differentiating cardiac muscle cell population to undergo expansion by cell division" [MGI:csmith]
Show

Allelic Composition: Ccm2ltm1Mlkn/Ccm2ltm1Mlkn,Heg1tm1Mlkn/Heg1tm1Mlkn
Genetic Background: involves: 129 * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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