CCM2

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA020273 , HPA021669
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CCM2 (HGNC Symbol)

Synonyms

C7orf22, MGC4607

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 78.38)

Entrez gene

83605

UniProt

Q9BSQ5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BSQ5

Antibodypedia

CCM2 antibodies


PROTEIN BROWSER

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ENST00000258781
 
ENST00000381112
 
ENST00000474617
 
ENST00000475551
 
ENST00000480382
 
ENST00000541586
 
ENST00000544363
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CCM2-001 ENSP00000258781
ENST00000258781
Q9BSQ5
Show all »
Show » Show » 444 48.8 No 0
CCM2-002 ENSP00000417180
ENST00000475551
Show » Show » 438 48.2 No 0
CCM2-014 ENSP00000418763
ENST00000480382
Show » 135 14.3 No 0
CCM2-016 ENSP00000419474
ENST00000474617
C9JUH3
Show all »
Show » 347 38.8 No 0
CCM2-201 ENSP00000370503
ENST00000381112
Q9BSQ5
Show all »
Show » Show » 465 51.4 No 0
CCM2-202 ENSP00000444725
ENST00000541586
Q9BSQ5
Show all »
Show » Show » 386 42.1 No 0
CCM2-203 ENSP00000438035
ENST00000544363
Q9BSQ5
Show all »
Show » Show » 353 39.5 No 0