CCM2 |
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)