Q9BSQ5.1
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Observed MW: 55kDa Calculated MW: 39kDa/42kDa/48kDa/51kDa
NCBI Official Full Name
Malcavernin
NCBI Official Synonym Full Names
cerebral cavernous malformation 2
NCBI Protein Information
malcavernin; cerebral cavernous malformations 2 protein
UniProt Protein Name
Malcavernin
UniProt Synonym Protein Names
Cerebral cavernous malformations 2 protein
UniProt Synonym Gene Names
UniProt Entry Name
CCM2_HUMAN
NCBI Summary for CCM2
This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
UniProt Comments for CCM2
CCM2: 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. 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. Defects in CCM2 are the cause of cerebral cavernous malformations type 2 (CCM2). Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and are usually present clinically during the 3rd to 5th decades of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Adaptor/scaffold
Chromosomal Location of Human Ortholog: 7p13
Cellular Component: protein complex; cytoplasm
Molecular Function: protein binding
Biological Process: integrin-mediated signaling pathway; intercellular junction assembly and maintenance; pericardium development; venous blood vessel morphogenesis; in utero embryonic development; multicellular organism growth; stress-activated MAPK cascade; vasculogenesis; inner ear development; endothelial cell development
Disease: Cerebral Cavernous Malformations 2
Research Articles on CCM2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-CCM2 antibody
Pathways associated with anti-CCM2 antibody
Diseases associated with anti-CCM2 antibody
Disease Name |
Pubmed Publications |
Hemangioma, Cavernous, Central Nervous System Antibodies |
>77 publications with CCM2 and Hemangioma, Cavernous, Central Nervous System |
Cerebral Cavernous Malformations 2 Antibodies |
>61 publications with CCM2 and Cerebral Cavernous Malformations 2 |
Hemorrhage Antibodies |
>25 publications with CCM2 and Hemorrhage |
Disease Models, Animal Antibodies |
>15 publications with CCM2 and Disease Models, Animal |
Abnormalities, Multiple Antibodies |
>8 publications with CCM2 and Abnormalities, Multiple |
Embryo Loss Antibodies |
>3 publications with CCM2 and Embryo Loss |
Edema Antibodies |
>2 publications with CCM2 and Edema |
Craniofacial Abnormalities Antibodies |
>2 publications with CCM2 and Craniofacial Abnormalities |
Heart Failure Antibodies |
>2 publications with CCM2 and Heart Failure |
Heart Defects, Congenital Antibodies |
>2 publications with CCM2 and Heart Defects, Congenital |
Organs/Tissues associated with anti-CCM2 antibody
|