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    MGP matrix Gla protein [ Homo sapiens (human) ]

    Gene ID: 4256, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    12p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14880864..14885854, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14758207..14763197, complement)
    105.20220307 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

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000900.5NP_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:3296
      Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    2. NM_001190839.3NP_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:57121
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)