Gene Gene information from NCBI Gene database.
Entrez ID 4256
Gene name Matrix Gla protein
Gene symbol MGP
Synonyms (NCBI Gene)
GIG36MGLAPNTI
Chromosome 12
Chromosome location 12p12.3
Summary This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification.
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs111320759 C>T Pathogenic-likely-pathogenic, pathogenic Splice donor variant
rs112518413 T>A,C Pathogenic Splice acceptor variant
rs730880321 C>- Pathogenic Coding sequence variant, stop gained
rs730880322 A>G,T Pathogenic Coding sequence variant, stop gained, synonymous variant
miRNA miRNA information provided by mirtarbase database.
325
miRTarBase ID miRNA Experiments Reference
MIRT017975 hsa-miR-335-5p Microarray 18185580
MIRT029487 hsa-miR-26b-5p Microarray 19088304
MIRT1147531 hsa-miR-1273f CLIP-seq
MIRT1147532 hsa-miR-1303 CLIP-seq
MIRT1147533 hsa-miR-135a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
JUN Unknown 11425864
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0001502 Process Cartilage condensation TAS 9916809
GO:0001503 Process Ossification IEA
GO:0001503 Process Ossification TAS 9916809
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 23979707, 27068509, 27559042
GO:0005201 Function Extracellular matrix structural constituent TAS 9916809
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
154870 7060 ENSG00000111341
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08493
Protein name Matrix Gla protein (MGP) (Cell growth-inhibiting gene 36 protein)
Protein function Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.
Family and domains
Sequence
MKSLILLAILAALAVVTLCYESHESMESYELNPFINRRNANTFISPQQRWRAKVQERIRE
RSKPVHELNREACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK
Sequence length 103
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
58
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Keutel syndrome Pathogenic; Likely pathogenic rs730880321, rs112518413, rs730880322, rs111320759 RCV000015415
RCV000015416
RCV000015417
RCV000015418
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MGP-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs11393307, rs142330429, rs145210821, rs777484287, rs371429849, rs145254250, rs151158281 RCV003923494
RCV003937546
RCV003920040
RCV003412016
RCV003971768
RCV003977896
RCV003960785
RCV003912899
Platyspondyly Conflicting classifications of pathogenicity rs1555094473 RCV003389347
Short distal phalanx of finger Conflicting classifications of pathogenicity rs1555094473 RCV003389347
Short palm Conflicting classifications of pathogenicity rs1555094473 RCV003389347
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 38343068
Abnormalities Drug Induced Associate 21724703
Acute Kidney Injury Associate 26981580
Aortic Valve Calcification of Associate 25990696
Aortic Valve Calcification of Inhibit 29653899
Aortic Valve Stenosis Associate 29653899
Astrocytoma Associate 12937144
Atherosclerosis Associate 15864013, 21143859, 23307874
beta Thalassemia Associate 23899606
Bone Diseases Associate 25354236