MGP matrix Gla protein [Homo sapiens (human)] - Gene

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: mouse all
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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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Assessment of MGP gene expression in cancer and contribution to prognosis.
Title: Assessment of MGP gene expression in cancer and contribution to prognosis.
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.
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.
Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer.
Title: Matrix Gla Protein drives stemness and tumor initiation in ovarian cancer.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X53331 (e-PCR)
- UniSTS:43544

GDB:214849 (e-PCR)
- UniSTS:156196

SHGC-12684 (e-PCR)
- UniSTS:83029

D12S1925 (e-PCR)
- UniSTS:79497

RH93429 (e-PCR)
- UniSTS:88207

G44728 (e-PCR)
- UniSTS:95203

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 more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	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

NG_023331.2 RefSeqGene

Range

5066..10056

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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