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MGP matrix Gla protein [ Homo sapiens (human) ]

Gene ID: 4256, updated on 12-Oct-2019

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
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

Genomic context

See MGP in Genome Data Viewer
Location:
12p12.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (14880864..14885854, 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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 RCA
inferred from Reviewed Computational Analysis
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_000900.5NP_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
    P08493
    UniProtKB/TrEMBL
    A0A024RAX0
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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