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CCM2

GENERAL INFORMATION

Gene name

 CCM2

Gene description

 Cerebral cavernous malformation 2

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General cytoplasmic expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA020273 , HPA021669
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable), pancreatic cancer (favourable), colorectal cancer (unfavourable) and glioma (unfavourable).
Renal cancer p<0.001
Pancreatic cancer p<0.001
Colorectal cancer p<0.001
Glioma p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA020273
HPA021669

GENE INFORMATION

Gene name

 CCM2 (HGNC Symbol)

Synonyms

 C7orf22, MGC4607, OSM

Description

 Cerebral cavernous malformation 2 (HGNC Symbol)

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.[provided by RefSeq, Nov 2009]

Chromosome

 7

Cytoband

 p13

Chromosome location (bp)

 44999475 - 45076469

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000136280 (version 83.38)

Entrez gene

 83605

UniProt

 Q9BSQ5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BSQ5

Antibodypedia

 CCM2 antibodies

PROTEIN BROWSER
CCM2-001
CCM2-002
CCM2-014
CCM2-016
CCM2-201
CCM2-202
CCM2-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CCM2-001
ENSP00000258781
ENST00000258781
Q9BSQ5 [Direct mapping]
Cerebral cavernous malformations 2 protein
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0001570 [vasculogenesis]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007229 [integrin-mediated signaling pathway]
GO:0051403 [stress-activated MAPK cascade]
GO:0061154 [endothelial tube morphogenesis]
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 444 aa
48.8 kDa 		No 0
CCM2-002
ENSP00000417180
ENST00000475551
A0A0A0MT72 [Direct mapping]
Cerebral cavernous malformations 2 protein
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 438 aa
48.2 kDa 		No 0
CCM2-014
ENSP00000418763
ENST00000480382
H7C516 [Direct mapping]
Cerebral cavernous malformations 2 protein
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   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 135 aa
14.3 kDa 		No 0
CCM2-016
ENSP00000419474
ENST00000474617
C9JUH3 [Direct mapping]
Cerebral cavernous malformations 2 protein
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 347 aa
38.8 kDa 		No 0
CCM2-201
ENSP00000370503
ENST00000381112
Q9BSQ5 [Direct mapping]
Cerebral cavernous malformations 2 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001568 [blood vessel development]
GO:0001570 [vasculogenesis]
GO:0001701 [in utero embryonic development]
GO:0001885 [endothelial cell development]
GO:0001944 [vasculature development]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007229 [integrin-mediated signaling pathway]
GO:0035264 [multicellular organism growth]
GO:0043234 [protein complex]
GO:0045216 [cell-cell junction organization]
GO:0048839 [inner ear development]
GO:0048845 [venous blood vessel morphogenesis]
GO:0051403 [stress-activated MAPK cascade]
GO:0060039 [pericardium development]
GO:0060837 [blood vessel endothelial cell differentiation]
GO:0061154 [endothelial tube morphogenesis]
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 465 aa
51.4 kDa 		No 0
CCM2-202
ENSP00000444725
ENST00000541586
Q9BSQ5 [Direct mapping]
Cerebral cavernous malformations 2 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001570 [vasculogenesis]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007229 [integrin-mediated signaling pathway]
GO:0051403 [stress-activated MAPK cascade]
GO:0061154 [endothelial tube morphogenesis]
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 386 aa
42.1 kDa 		No 0
CCM2-203
ENSP00000438035
ENST00000544363
Q9BSQ5 [Direct mapping]
Cerebral cavernous malformations 2 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001570 [vasculogenesis]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007229 [integrin-mediated signaling pathway]
GO:0051403 [stress-activated MAPK cascade]
GO:0061154 [endothelial tube morphogenesis]
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 353 aa
39.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.