Ccm2 - cerebral cavernous malformation 2 Gene

Mus musculus

Gene ID: 216527 | Gene type: protein coding

About Ccm2

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19151727	MGI

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

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