Identity
HGNC
LOCATION
7p13
LOCUSID
ALIAS
C7orf22,OSM,PP10187
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83605
MIM: 607929
HGNC: 21708
Ensembl: ENSG00000136280
Variants:
dbSNP: 83605
ClinVar: 83605
TCGA: ENSG00000136280
COSMIC: CCM2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38755314 | 2024 | Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations. | 1 |
| 38755314 | 2024 | Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations. | 1 |
| 35488064 | 2022 | Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. | 0 |
| 35488064 | 2022 | Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. | 0 |
| 31937560 | 2020 | Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations. | 1 |
| 32170606 | 2020 | A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene. | 2 |
| 32186778 | 2020 | Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers. | 14 |
| 31937560 | 2020 | Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations. | 1 |
| 32170606 | 2020 | A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene. | 2 |
| 32186778 | 2020 | Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers. | 14 |
| 30701383 | 2019 | Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. | 4 |
| 31455779 | 2019 | CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan. | 3 |
| 30701383 | 2019 | Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. | 4 |
| 31455779 | 2019 | CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan. | 3 |
| 29197946 | 2018 | First 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/ccm2
