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    MGP matrix Gla protein [ Homo sapiens (human) ]

    Gene ID: 4256, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MGPprovided by HGNC
    Official Full Name
    matrix Gla proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7060
    See related
    Ensembl:ENSG00000111341 MIM:154870; AllianceGenome:HGNC:7060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NTI; GIG36; MGLAP
    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. 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]
    Expression
    Broad expression in gall bladder (RPKM 391.2), adrenal (RPKM 338.4) and 18 other tissues See more
    Orthologs
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    Genomic context

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    See MGP in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14880864..14885854, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14758207..14763197, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15033798..15038788, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 60 Neighboring gene single-pass membrane protein with coiled-coil domains 3 Neighboring gene ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 Neighboring gene uncharacterized LOC124902885 Neighboring gene endoplasmic reticulum protein 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6059

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Circulating species of matrix Gla protein and the risk of vascular calcification in healthy women. Dalmeijer GW, et al. Int J Cardiol, 2013 Oct 15. PMID 24029658
    2. [The frequency of allelic polymorphism of matrix Gla-protein gene in acute coronary syndrome patients]. Harbuzova VIu, et al. Fiziol Zh (1994), 2011. PMID 21870514
    3. Serum matrix Gla protein concentrations in patients with mild and severe acute pancreatitis. Kusnierz-Cabala B, et al. Clin Lab, 2011. PMID 22239033
    4. Role of matrix Gla protein in angiotensin II-induced exacerbation of vascular calcification. Jia G, et al. Am J Physiol Heart Circ Physiol, 2012 Sep 1. PMID 22796540, Free PMC Article
    5. Circulating matrix Gla protein is associated with coronary artery calcification and vitamin K status in healthy women. Dalmeijer GW, et al. J Nutr Biochem, 2013 Apr. PMID 22819559

    See all (152) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Assessment of MGP gene expression in cancer and contribution to prognosis.
      Title: Assessment of MGP gene expression in cancer and contribution to prognosis.
    2. lncRNA MIR31HG Regulates Proliferation and Migration by Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft Palate.
      Title: lncRNA MIR31HG Regulates Proliferation and Migration by Targeting Matrix Gla Protein in Nonsyndromic Cleft Lip With or Without Cleft Palate.
    3. Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis.
      Title: Reduced APPL1 impairs osteogenic differentiation of mesenchymal stem cells by facilitating MGP expression to disrupt the BMP2 pathway in osteoporosis.
    4. Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer.
      Title: Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer.
    5. 1,25-(OH)2D3 participates and modulates airway remodeling by reducing MGP and TGF-beta1 expression in TNF-alpha-induced airway smooth muscle cells.
      Title: 1,25-(OH)2D3 participates and modulates airway remodeling by reducing MGP and TGF-β1 expression in TNF-α-induced airway smooth muscle cells.
    6. Matrix Gla Protein Levels Are Associated With Arterial Stiffness and Incident Heart Failure With Preserved Ejection Fraction.
      Title: Matrix Gla Protein Levels Are Associated With Arterial Stiffness and Incident Heart Failure With Preserved Ejection Fraction.
    7. Characterization of dynamic changes in Matrix Gla Protein (MGP) gene expression as function of genetic risk alleles, osteoarthritis relevant stimuli, and the vitamin K inhibitor warfarin.
      Title: Characterization of dynamic changes in Matrix Gla Protein (MGP) gene expression as function of genetic risk alleles, osteoarthritis relevant stimuli, and the vitamin K inhibitor warfarin.
    8. Suppression MGP inhibits tumor proliferation and reverses oxaliplatin resistance in colorectal cancer.
      Title: Suppression MGP inhibits tumor proliferation and reverses oxaliplatin resistance in colorectal cancer.
    9. Intracellular matrix Gla protein promotes tumor progression by activating JAK2/STAT5 signaling in gastric cancer.
      Title: Intracellular matrix Gla protein promotes tumor progression by activating JAK2/STAT5 signaling in gastric cancer.
    10. Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
      Title: Circulating Levels of Dephosphorylated-Uncarboxylated Matrix Gla Protein in Patients with Acute Coronary Syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (117)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Keutel syndrome
    MedGen: C1855607 OMIM: 245150 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of bone TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cartilage condensation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    matrix Gla protein
    Names
    cell growth-inhibiting gene 36 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023331.2 RefSeqGene

      Range
      5066..10056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000900.5 → NP_000891.2  matrix Gla protein isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_000891.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter isoform (2).
      Source sequence(s)
      AC007655
      Consensus CDS
      CCDS8669.1
      UniProtKB/Swiss-Prot
      A0M8W5, B2R519, J3KMX7, P08493, Q2TU41, Q567P9, Q6ICN5
      Related
      ENSP00000445907.1, ENST00000539261.6
      Conserved Domains (1) summary
      cl02449
      Location:32 → 96
      Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

    2. NM_001190839.3 → NP_001177768.1  matrix Gla protein isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate in-frame exon in the 5' coding region compared to variant 2. The encoded isoform (1) is longer than isoform 2 but may undergo proteolytic processing similar to isoform 2.
      Source sequence(s)
      AC007655
      Consensus CDS
      CCDS53752.1
      UniProtKB/Swiss-Prot
      P08493
      Related
      ENSP00000228938.5, ENST00000228938.5
      Conserved Domains (1) summary
      smart00069
      Location:57 → 121
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      14880864..14885854 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      14758207..14763197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08493.2 GenPept UniProtKB/Swiss-Prot:P08493

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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