Human Gene MGP (ENST00000539261.6) Description and Page Index
Description: Homo sapiens matrix Gla protein (MGP), transcript variant 2, mRNA. (from RefSeq NM_000900) RefSeq Summary (NM_000900): 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]. Gencode Transcript: ENST00000539261.6 Gencode Gene: ENSG00000111341.10 Transcript (Including UTRs) Position: hg38 chr12:14,880,864-14,885,854 Size: 4,991 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr12:14,882,139-14,885,791 Size: 3,653 Coding Exon Count: 4
ID:MGP_HUMAN DESCRIPTION: RecName: Full=Matrix Gla protein; Short=MGP; AltName: Full=Cell growth-inhibiting gene 36 protein; Flags: Precursor; FUNCTION: Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation. SUBCELLULAR LOCATION: Secreted. PTM: Requires vitamin K-dependent gamma-carboxylation for its function. DISEASE: Defects in MGP are the cause of Keutel syndrome (KS) [MIM:245150]. KS is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. SIMILARITY: Belongs to the osteocalcin/matrix Gla protein family. SIMILARITY: Contains 1 Gla (gamma-carboxy-glutamate) domain. WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/mgp/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08493
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.