Human Gene MGP (ENST00000539261.6) Description and Page Index
  Description: Homo sapiens matrix Gla protein (MGP), transcript variant 2, mRNA. (from RefSeq NM_000900)
RefSeq Summary (NM_000900): 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. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016].
Gencode Transcript: ENST00000539261.6
Gencode Gene: ENSG00000111341.10
Transcript (Including UTRs)
   Position: hg38 chr12:14,880,864-14,885,854 Size: 4,991 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr12:14,882,139-14,885,791 Size: 3,653 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:14,880,864-14,885,854)mRNA (may differ from genome)Protein (103 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MGP_HUMAN
DESCRIPTION: RecName: Full=Matrix Gla protein; Short=MGP; AltName: Full=Cell growth-inhibiting gene 36 protein; Flags: Precursor;
FUNCTION: Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.
SUBCELLULAR LOCATION: Secreted.
PTM: Requires vitamin K-dependent gamma-carboxylation for its function.
DISEASE: Defects in MGP are the cause of Keutel syndrome (KS) [MIM:245150]. KS is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
SIMILARITY: Belongs to the osteocalcin/matrix Gla protein family.
SIMILARITY: Contains 1 Gla (gamma-carboxy-glutamate) domain.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/mgp/";

-  MalaCards Disease Associations
  MalaCards Gene Search: MGP
Diseases sorted by gene-association score: keutel syndrome* (1399), vitamin k deficiency hemorrhagic disease (15), relapsing polychondritis (9), arteriosclerosis (9), pseudoxanthoma elasticum (9), calcinosis (8), hyperphosphatemia (7), ureter cancer (7), glycogen storage disease vi (7), diffuse idiopathic skeletal hyperostosis (6), bruxism (5), x-linked chondrodysplasia punctata (5), nutritional deficiency disease (4), long qt syndrome 6 (4), nephrolithiasis, calcium oxalate (3), vascular disease (3), osteoporosis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4331.32 RPKM in Artery - Aorta
Total median expression: 17927.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.0063-0.222 Picture PostScript Text
3' UTR -254.201275-0.199 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002384 - GLA_bone
IPR000294 - GLA_domain

Pfam Domains:
PF00594 - Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

ModBase Predicted Comparative 3D Structure on P08493
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008147 structural constituent of bone

Biological Process:
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0030500 regulation of bone mineralization
GO:0051216 cartilage development

Cellular Component:
GO:0005576 extracellular region
GO:0031012 extracellular matrix
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC093078 - Homo sapiens matrix Gla protein, mRNA (cDNA clone MGC:111227 IMAGE:30405585), complete cds.
LF207445 - JP 2014500723-A/14948: Polycomb-Associated Non-Coding RNAs.
MA443022 - JP 2018138019-A/14948: Polycomb-Associated Non-Coding RNAs.
M58549 - Human matrix Gla protein (MGP) mRNA, complete cds.
BC005272 - Homo sapiens matrix Gla protein, mRNA (cDNA clone MGC:12316 IMAGE:3930143), complete cds.
BC070314 - Homo sapiens matrix Gla protein, mRNA (cDNA clone MGC:88316 IMAGE:6653229), complete cds.
X53331 - Human mRNA for matrix Gla protein.
X07362 - Human mRNA for matrix Gla protein (MGP).
JD486864 - Sequence 467888 from Patent EP1572962.
JD059889 - Sequence 40913 from Patent EP1572962.
LF366255 - JP 2014500723-A/173758: Polycomb-Associated Non-Coding RNAs.
MA601832 - JP 2018138019-A/173758: Polycomb-Associated Non-Coding RNAs.
AY542304 - Homo sapiens GIG36 mRNA, complete cds.
JD268649 - Sequence 249673 from Patent EP1572962.
AK312029 - Homo sapiens cDNA, FLJ92305, Homo sapiens matrix Gla protein (MGP), mRNA.
KJ897187 - Synthetic construct Homo sapiens clone ccsbBroadEn_06581 MGP gene, encodes complete protein.
BT006733 - Homo sapiens matrix Gla protein mRNA, complete cds.
DQ892495 - Synthetic construct clone IMAGE:100005125; FLH186833.01X; RZPDo839A1272D matrix Gla protein (MGP) gene, encodes complete protein.
DQ895707 - Synthetic construct Homo sapiens clone IMAGE:100010167; FLH186829.01L; RZPDo839A1262D matrix Gla protein (MGP) gene, encodes complete protein.
CR450358 - Homo sapiens full open reading frame cDNA clone RZPDo834C013D for gene MGP, matrix Gla protein; complete cds; without stopcodon.
LF366256 - JP 2014500723-A/173759: Polycomb-Associated Non-Coding RNAs.
MA601833 - JP 2018138019-A/173759: Polycomb-Associated Non-Coding RNAs.
AK310040 - Homo sapiens cDNA, FLJ17082.

-  Other Names for This Gene
  Alternate Gene Symbols: A0M8W5, B2R519, GIG36, MGLAP, MGP_HUMAN, NM_000900, P08493, Q2TU41, Q567P9, Q6ICN5, uc001rcn.1, uc001rcn.2, uc001rcn.3, uc001rcn.4
UCSC ID: uc001rcn.4
RefSeq Accession: NM_000900
Protein: P08493 (aka MGP_HUMAN)
CCDS: CCDS8669.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.