Ccm2 - cerebral cavernous malformation 2 Gene

Species: Mus musculus

Gene Type: protein coding
Gene ID: 216527

Summary

Acts upstream of or within several processes, including circulatory system development; endothelial cell development; and in utero embryonic development. Part of protein-containing complex. Is expressed in several structures, including cardiovascular system; central nervous system; early conceptus; gut; and retina layer. Used to study cerebral cavernous malformation 2. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein). [provided by Alliance of Genome Resources, Apr 2022]

Ccm2 Products (3)

mRNA Protein Name
NM_001190343.1 NP_001177272.1 cerebral cavernous malformations protein 2 homolog isoform 2
NM_001190344.1 NP_001177273.1 cerebral cavernous malformations protein 2 homolog isoform 3
NM_146014.3 NP_666126.1 cerebral cavernous malformations protein 2 homolog isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19151727 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within blood vessel development IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within blood vessel endothelial cell differentiation IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within cell-cell junction organization IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within endothelial cell development IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within endothelial cell development IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within heart development IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within in utero embryonic development IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within in utero embryonic development IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within inner ear development IDA
IDA: Inferred from direct assay
21795542 MGI
acts upstream of or within multicellular organism growth IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within multicellular organism growth IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within pericardium development IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within pericardium development IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within vasculature development IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within vasculature development IMP
IMP: Inferred from mutant phenotype
19151727 MGI
acts upstream of or within vasculogenesis IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within venous blood vessel morphogenesis IGI
IGI: Inferred from genetic interaction
19151727 MGI
acts upstream of or within venous blood vessel morphogenesis IMP
IMP: Inferred from mutant phenotype
19151727 MGI
Cellular Component GO Annotation Evidence References Source
part of protein-containing complex IDA
IDA: Inferred from direct assay
19151727 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

cerebral cavernous malformations protein 2 homolog

  • cerebral cavernous malformation 2 homolog

  • malcavernin

  • osmosensing scaffold for MEKK3

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02108 CCM2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS02109 CCM2L Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ccm2 NCBI NCBI:83605