Tbio CCM2 Cerebral cavernous malformations 2 protein

Protein Summary

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). 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 Accession IDs

• Q9BSQ5
• A4D2L4
• B3KUV0
• D3DVL4
• E9PDJ3
• F5H0E1
• F5H551
• Q71RE5
• Q8TAT4

Gene Name

• CCM2

Ensembl ID

• ENST00000258781
• ENSP00000258781
• ENSG00000136280
• ENST00000381112
• ENSP00000370503
• ENST00000541586
• ENSP00000444725
• ENST00000544363
• ENSP00000438035

Symbol

• C7orf22
• OSM
• C7orf22
• PP10187

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.84
transcription factor	0.62
histone modification site profile	0.6
biological term	0.59
cell type or tissue	0.58

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 164.41   (req: < 5)

Gene RIFs: 52   (req: <= 3)

Antibodies: 292   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 164.41   (req: >= 5)

Gene RIFs: 52   (req: > 3)

Antibodies: 292   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0