ENSDARG00000013705


Danio rerio

Features
Gene ID: ENSDARG00000013705
  
Biological name :ccm2
  
Synonyms : ccm2 / cerebral cavernous malformation 2 / Q6DRP4
  
Possible biological names infered from orthology : CCM2 scaffolding protein / Cerebral cavernous malformations / Q8K2Y9 / Q9BSQ5
  
Species: Danio rerio
  
Chr. number: 20
Strand: -1
Band:
Gene start: 18774129
Gene end: 18794789
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSDARP00000022543
Ensembl peptide - ENSDARP00000155962
NCBI entrez gene - 436586     See in Manteia.
swissprot - Q6DRP4
ZFIN ID - ZDB-GENE-040712-6
Ensembl - ENSDARG00000013705
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CCM2ENSGALG00000005612Gallus gallus
 CCM2ENSG00000136280Homo sapiens
 Ccm2ENSMUSG00000000378Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ccm2l / cerebral cavernous malformation 2-like / Q9NUG4* / Q8VCC6* / CCM2 like scaffolding protein* / Cerebral cavernous malformations 2 protein-like *ENSDARG0000006308928


Protein motifs (from Interpro)
Interpro ID Name
 IPR006020  PTB/PI domain
 IPR011993  PH-like domain superfamily
 IPR026159  Cerebral cavernous malformations 2
 IPR032375  Cerebral cavernous malformations 2, harmonin-homology domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0007043 cell-cell junction assembly IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0009948 anterior/posterior axis specification IGI
 biological_processGO:0060047 heart contraction IGI
 cellular_componentGO:0005737 cytoplasm IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 ZFA:0000009 cardiac ventricle cardiac ventricle dilated , abnormal
Show

 ZFA:0000054 pericardium pericardium edematous , abnormal
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 ZFA:0000084 yolk yolk grey , abnormal
yolk edematous , abnormal
yolk swollen , abnormal
Show

 ZFA:0000095 pharyngeal arch 3-7 skeleton pharyngeal arch 3-7 skeleton quality , abnormal
Show

 ZFA:0000107 eye eye decreased size , abnormal
Show

 ZFA:0000112 gut gut hypoplastic , abnormal
gut quality , abnormal
Show

 ZFA:0000114 heart heart increased accumulation blood , abnormal
heart dilated , abnormal
heart edematous , abnormal
heart quality , abnormal
heart increased size , abnormal
Show

 ZFA:0000123 liver liver hypoplastic , abnormal
liver quality , abnormal
liver morphology , abnormal
Show

 ZFA:0000180 caudal vein caudal vein morphology , abnormal
caudal vein dilated , abnormal
Show

 ZFA:0000186 common cardinal vein common cardinal vein decreased size , abnormal
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 ZFA:0000471 atrium atrium increased size , abnormal
atrium dilated , abnormal
Show

 ZFA:0001054 lateral dorsal aorta lateral dorsal aorta endothelial cell increased amount , abnormal
Show

 ZFA:0001067 anterior cerebral vein anterior cerebral vein dilated , abnormal
Show

 ZFA:0001079 blood vasculature blood vasculature obstructed , abnormal
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 ZFA:0001114 head head decreased size , abnormal
Show

 ZFA:0001227 mandibular arch skeleton mandibular arch skeleton increased thickness , abnormal
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 ZFA:0001267 cranial vasculature cranial vasculature spatial pattern , abnormal
Show

 ZFA:0001317 endocardial cushion endocardial cushion absent , abnormal
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 ZFA:0001319 myocardium myocardium distended , abnormal
myocardium decreased thickness , abnormal
Show

 ZFA:0001320 endocardium endocardium proliferative , abnormal
Show

 ZFA:0001439 anatomical system anatomical system quality , abnormal
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 ZFA:0001557 pronephric glomerulus pronephric glomerulus unfused from pronephric glomerulus , abnormal
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 ZFA:0001615 ventricular endocardium ventricular endocardium increased distribution , abnormal
ventricular endocardium Notch signaling involved in heart development increased occurrence , abnormal
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 ZFA:0001616 atrioventricular canal endocardium atrioventricular canal endocardium increased distribution , abnormal
atrioventricular canal endocardium Notch signaling involved in heart development increased occurrence , abnormal
Show

 ZFA:0005004 aortic arch aortic arch constricted , abnormal
Show

 ZFA:0005017 primordial midbrain channel primordial midbrain channel dilated , abnormal
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 ZFA:0005024 trunk vasculature trunk vasculature dilated , abnormal
Show

 ZFA:0005035 subintestinal vein subintestinal vein increased branchiness , abnormal
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 ZFA:0005049 prosencephalic artery prosencephalic artery dilated , abnormal
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 ZFA:0005092 mesencephalic vein mesencephalic vein dilated , abnormal
Show

 ZFA:0009036 blood vessel endothelial cell blood vessel endothelial cell cell-cell junction decreased length , abnormal
Show

  


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






 

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