| URN | urn:agi-llid:9225 |
|---|---|
| Total Entities | 0 |
| Connectivity | 81 |
| Name | Ccm2 |
| Description | cerebral cavernous malformation 2 |
| Notes | 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] |
| GO Cellular Component | protein complex |
|---|---|
| cytoplasm |
| GO Biological Process | stress-activated MAPK cascade |
|---|---|
| integrin-mediated signaling pathway | |
| endothelial cell development | |
| vasculogenesis | |
| blood vessel endothelial cell differentiation | |
| cell-cell junction organization | |
| blood vessel development | |
| inner ear development | |
| vasculature development | |
| heart development | |
| pericardium development | |
| in utero embryonic development | |
| endothelial tube morphogenesis | |
| venous blood vessel morphogenesis | |
| multicellular organism growth |
| Pathway | p38 MAPK signaling pathway |
|---|---|
| p38 MAPK signaling pathway | |
| p38 MAPK signaling pathway |
| Group | stress-activated MAPK cascade |
|---|---|
| integrin-mediated signaling pathway | |
| endothelial cell development | |
| vasculogenesis | |
| blood vessel endothelial cell differentiation | |
| cell-cell junction organization | |
| blood vessel development | |
| inner ear development | |
| vasculature development | |
| heart development | |
| pericardium development | |
| in utero embryonic development | |
| endothelial tube morphogenesis | |
| venous blood vessel morphogenesis | |
| multicellular organism growth | |
| protein complex | |
| cytoplasm |
| MedScan ID | 9225 |
|---|---|
| 305505 |
| Hugo ID | 21708 |
|---|
| Human chromosome position | 7p13 |
|---|
| LocusLink ID | 9225 |
|---|---|
| 83605 | |
| 216527 | |
| 305505 |
| Alias | OSM |
|---|---|
| C7orf22 | |
| PP10187 | |
| malcavernin | |
| cerebral cavernous malformations 2 protein | |
| BC029157 | |
| RP23-169J19.3 | |
| osmosensing scaffold for MEKK3 | |
| cerebral cavernous malformation 2 homolog | |
| cerebral cavernous malformations protein 2 homolog | |
| MGC4067 | |
| MGC4607 | |
| MGC74868 | |
| OTTHUMP00000214270 | |
| OTTHUMP00000214271 | |
| OTTHUMP00000214273 | |
| OTTMUSP00000005338 | |
| MGC37115 | |
| cerebral cavernous malforming 2 | |
| OTTMUSP00000005339 | |
| chromosome 7 open reading frame 22 | |
| CCM2 | |
| cDNA sequence BC029157 | |
| cerebral cavernous malformation 2 | |
| cerebral cavernous malformation II | |
| cerebral cavernous malforming II | |
| cerebral cavernous malformation 2 homolog (human) |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607929 |
|---|---|
| 603284 |
| Unigene ID | Hs.148272 |
|---|---|
| Mm.221271 | |
| Rn.106599 |
| KEGG ID | hsa:83605 |
|---|---|
| mmu:216527 | |
| rno:305505 |
| Swiss-Prot Accession | E9PDJ3 |
|---|---|
| Q9BSQ5 | |
| F5H551 | |
| F5H0E1 | |
| F7AVU1 | |
| Q8K2Y9 | |
| B1H273 | |
| Q5SUA3 | |
| A4D2L4 | |
| D3DVL4 | |
| Q71RE5 | |
| Q8TAT4 |
| GO ID | 0061154 |
|---|---|
| 0007229 | |
| 0051403 | |
| 0001570 | |
| 0005737 | |
| 0001568 | |
| 0060837 | |
| 0045216 | |
| 0001885 | |
| 0007507 | |
| 0001701 | |
| 0048839 | |
| 0035264 | |
| 0060039 | |
| 0001944 | |
| 0048845 | |
| 0043234 |
| Swiss-Prot ID | CCM2_MOUSE |
|---|---|
| CCM2_HUMAN | |
| B1H273_RAT |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00170037 |
|---|---|
| IPI00649501 | |
| IPI00465425 | |
| IPI00619952 | |
| IPI00364987 | |
| IPI00781316 |
| Mouse chromosome position | 11 |
|---|
| Rat chromosome position | 14q21 |
|---|
| Homologene ID | 12868 |
|---|
| MGI ID | 2384924 |
|---|
| RGD ID | 1308067 |
|---|