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CCM2

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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

Summary

 Localized to the mitochondria.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Mitochondria (validated)

DATA RELIABILITY

Reliability score

 Validated based on 2 antibodies.
HPA020273 , HPA065815
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the mitochondria.

Main location

 Mitochondria (validated)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA020273 A-431 Mitochondria
HPA020273 U-2 OS Mitochondria
HPA020273 U-251 MG Mitochondria
HPA065815 MCF7 Mitochondria
HPA065815 U-2 OS Mitochondria
HPA065815 U-251 MG Mitochondria

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
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]
Show all
 444 aa
48.8 kDa 		No 0
CCM2-002
ENSP00000417180
ENST00000475551
A0A0A0MT72 [Direct mapping]
Cerebral cavernous malformations 2 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 438 aa
48.2 kDa 		No 0
CCM2-014
ENSP00000418763
ENST00000480382
H7C516 [Direct mapping]
Cerebral cavernous malformations 2 protein
Show all
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 135 aa
14.3 kDa 		No 0
CCM2-016
ENSP00000419474
ENST00000474617
C9JUH3 [Direct mapping]
Cerebral cavernous malformations 2 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 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]
Show all
 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]
Show all
 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]
Show all
 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.