CCM2 human: cerebral cavernous malformation 2
Aliases: malcavernin, cerebral cavernous malformations 2 protein, CCM2, PP10187, C7orf22, MGC4067, MGC4607, MGC74868, OSM
Pfam Domain Structure
From CCM2 (human)
Protein Overview
| Official Gene Name | CCM2 (H. sapiens) |
| RefSeq Protein Name | cerebral cavernous malformation 2 |
| UniProt Gene Symbol | CCM2_HUMAN |
| Entrez Gene Summary | 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. |
References
Consortium Results & Data
Results & Data
| Ortholog | Species | Type | Description | Method | Status | Source | Publications |
|---|---|---|---|---|---|---|---|
| CCM2 | human | phosphorylation site | CCM2 | 20 sites in 98.2% coverage of 444 amino acids | Ginsberg |
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Isoforms
| Isoform Name | RefSeq Protein | RefSeq mRNA | Swissprot ID |
|---|---|---|---|
| isoform 1 | NP_001025006 | NM_001029835 | Q9BSQ5 |
| isoform 3 | NP_001161406 | NM_001167934 | Q9BSQ5 |
| isoform 4 | NP_001161407 | NM_001167935 | Q9BSQ5 |
| isoform 2 | NP_113631 | NM_031443 | Q9BSQ5 |
bold indicates the primary isoform