CCM2 (CCM2 scaffold protein)

2009-11-01  

Identity

HGNC
CCM2
LOCATION
7p13
LOCUSID
83605
ALIAS
C7orf22,OSM,PP10187
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83605
MIM: 607929
HGNC: 21708
Ensembl: ENSG00000136280

Variants:

dbSNP: 83605
ClinVar: 83605
TCGA: ENSG00000136280
COSMIC: CCM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136280ENST00000258781Q9BSQ5
ENSG00000136280ENST00000381112Q9BSQ5
ENSG00000136280ENST00000474617C9JUH3
ENSG00000136280ENST00000475551A0A0A0MT72
ENSG00000136280ENST00000480382H7C516
ENSG00000136280ENST00000488727E9PEC4
ENSG00000136280ENST00000541586Q9BSQ5
ENSG00000136280ENST00000544363Q9BSQ5
ENSG00000136280ENST00000648329A0A3B3IRS0

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
387553142024Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.1
387553142024Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.1
354880642022Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.0
354880642022Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.0
319375602020Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.1
321706062020A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene.2
321867782020Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers.14
319375602020Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.1
321706062020A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene.2
321867782020Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers.14
307013832019Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.4
314557792019CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.3
307013832019Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.4
314557792019CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.3
291979462018First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.13

Citation

Dessen P

CCM2 (CCM2 scaffold protein)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51185