Gene Facts External Data Attribution

HGNC Symbol
CCM2 (HGNC:21708) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CCM2 scaffold protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C7orf22
Alias symbols
MGC4607, OSM
%HI
28.19(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.66(Read more about gnomAD LOEUF score)
Cytoband
7p13
Genomic Coordinates
GRCh37/hg19: chr7:45039345-45116069 NCBI Ensembl UCSC
GRCh38/hg38: chr7:44999746-45076470 NCBI Ensembl UCSC
MANE Select Transcript
NM_031443.4 ENST00000258781.11 (Read more about MANE Select)
Function
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23615
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)