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    MGP matrix Gla protein [ Homo sapiens (human) ]

    Gene ID: 4256, updated on 4-Jun-2017
    Official Symbol
    MGPprovided by HGNC
    Official Full Name
    matrix Gla proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7060
    See related
    Ensembl:ENSG00000111341 MIM:154870; Vega:OTTHUMG00000168740
    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]
    Orthologs
    Location:
    12p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (14881181..14885919, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15034115..15038853, 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 (Dombrock blood group) Neighboring gene endoplasmic reticulum protein 27 Neighboring gene Rho GDP dissociation inhibitor beta

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix structural constituent TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of bone TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cartilage condensation TAS
    Traceable Author Statement
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    matrix Gla protein
    Names
    cell growth-inhibiting gene 36 protein

    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_023331.1 RefSeqGene

      Range
      4858..10056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000900.4NP_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, BC093078, CB108937, N85639
      Consensus CDS
      CCDS8669.1
      UniProtKB/Swiss-Prot
      P08493
      UniProtKB/TrEMBL
      A0A024RAX0
      Related
      ENSP00000445907.1, OTTHUMP00000239335, ENST00000539261.5, OTTHUMT00000400864
      Conserved Domains (1) summary
      cl02449
      Location:3296
      Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    2. NM_001190839.2NP_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, BC093078, BF699158, N85639
      Consensus CDS
      CCDS53752.1
      UniProtKB/Swiss-Prot
      P08493
      Related
      ENSP00000228938.5, OTTHUMP00000239337, ENST00000228938.5, OTTHUMT00000400866
      Conserved Domains (1) summary
      smart00069
      Location:57121
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      14881181..14885919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      15000196..15004934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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