UniProt Accession

 CCM2_HUMAN; Q9BSQ5; A4D2L4; B3KUV0; D3DVL4; E9PDJ3; F5H0E1; F5H551; Q71RE5; Q8TAT4 

Genbank Protein ID

 AK098005; AF370392; AC004847; AC013416; CH236960; CH471128; CH471128; BC004903; BC008859; BC016832; BC025958 

Genbank Nucleotide ID

 BAG53562.1; AAQ15228.1; EAL23746.1; EAW61061.1; EAW61064.1; AAH04903.1; AAH08859.1; AAH16832.1; AAH25958.1 

Protein Name

 Malcavernin 

Protein Synonyms/Alias

 Cerebral cavernous malformations 2 protein 

Gene Name

 CCM2 

Gene Synonyms/Alias

 C7orf22; PP10187 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
96	LHFIDNAKRAHQLPG	ubiquitination	[1]

Reference

 [1] Refined preparation and use of anti-diglycine remnant (K-ε-GG) antibody enables routine quantification of 10,000s of ubiquitination sites in single proteomics experiments.
 Udeshi ND, Svinkina T, Mertins P, Kuhn E, Mani DR, Qiao JW, Carr SA.
 Mol Cell Proteomics. 2013 Mar;12(3):825-31. [PMID: 23266961] 

Functional Description

 Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3- dependent p38 activation induced by hyperosmotic shock (By similarity). 

Sequence Annotation

 DOMAIN 59 248 PID.
 REGION 283 376 Harmonin homology domain.
 MOD_RES 384 384 Phosphoserine.  

Keyword

 3D-structure; Alternative splicing; Complete proteome; Cytoplasm; Developmental protein; Direct protein sequencing; Disease mutation; Phosphoprotein; Polymorphism; Reference proteome. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 444 AA 

Protein Sequence

Gene Ontology

 GO:0005737; C:cytoplasm; IDA:UniProtKB.
 GO:0043234; C:protein complex; IEA:Compara.
 GO:0060837; P:blood vessel endothelial cell differentiation; IEA:Compara.
 GO:0045216; P:cell-cell junction organization; IEA:Compara.
 GO:0001885; P:endothelial cell development; IEA:Compara.
 GO:0061154; P:endothelial tube morphogenesis; IMP:MGI.
 GO:0001701; P:in utero embryonic development; IEA:Compara.
 GO:0048839; P:inner ear development; IEA:Compara.
 GO:0007229; P:integrin-mediated signaling pathway; TAS:UniProtKB.
 GO:0035264; P:multicellular organism growth; IEA:Compara.
 GO:0060039; P:pericardium development; IEA:Compara.
 GO:0051403; P:stress-activated MAPK cascade; TAS:UniProtKB.
 GO:0001570; P:vasculogenesis; IMP:UniProtKB.
 GO:0048845; P:venous blood vessel morphogenesis; IEA:Compara. 

Interpro

 IPR026159; Malcavernin.
 IPR011993; PH_like_dom.
 IPR006020; PTyr_interaction_dom. 

Pfam

  

SMART

  

PROSITE

 PS01179; PID 

PRINTS