Also known as C7orf22, OSM, PP10187, CCM2 scaffolding protein, CCM2 scaffold protein
The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on chromosome 7p13 and loss of function mutations on CCM2 lead to the onset of cerebral cavernous malformations (CCM) illness. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
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].
via MyGene.info
The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on chromosome 7p13 and loss of function mutations on CCM2 lead to the onset of cerebral cavernous malformations (CCM) illness. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
==Protein== Malcavernin is a protein that in humans is encoded by the CCM2 gene. The normal function of malcavernin is to act as a scaffold for a variety of signaling complexes including p38 MAP Kinase. This protein is also involved in regulating the cellular localization of the KRIT1 protein and acts with the Rho Kinase signaling pathway to maintain normal blood vessel structure.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).