MGP
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MGP (HGNC:7060) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
matrix Gla protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
8.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.63(Read more about gnomAD LOEUF score)
Cytoband
12p12.3
Genomic Coordinates
GRCh37/hg19: chr12:15033798-15038788 NCBI Ensembl UCSC
GRCh38/hg38: chr12:14880864-14885854 NCBI Ensembl UCSC
MANE Select Transcript
NM_000900.5 ENST00000539261.6 (Read more about MANE Select)
Function
Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34033
ClinGen Curation ID:
CCID:007461
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/08/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in MGP have been identified in individuals with Keutel syndrome (OMIM 154870), an autosomal recessive condition. Keutel syndrome has phenotypic features including pulmonary artery stenosis, brachytelephalangy, inner ear deafness, and cartilage calcification. See the following PMIDs: 29928182, 15810001, and 25123378.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)