FAM20C
Identifiers
Aliases	FAM20C, DMP-4, DMP4, GEF-CK, RNS, family with sequence similarity 20 member C, G-CK, golgi associated secretory pathway kinase, FAM20C golgi associated secretory pathway kinase
External IDs	OMIM: 611061 MGI: 2136853 HomoloGene: 56879 GeneCards: FAM20C
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p22.3 Start 192,571 bp[1] End 260,772 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 138,740,269 bp[2] End 138,795,832 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver kidney body of stomach ascending aorta popliteal artery right coronary artery left coronary artery fundus tibial nerve prostate Top expressed in molar medial geniculate nucleus islet of Langerhans medial dorsal nucleus olfactory bulb stria vascularis proximal tubule lateral geniculate nucleus left lobe of liver periodontal fiber More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotide binding calcium ion binding manganese ion binding metal ion binding kinase activity protein binding ATP binding protein serine/threonine kinase activity phosphotransferase activity, alcohol group as acceptor Cellular component Golgi apparatus extracellular region extracellular exosome extracellular space cytoplasm endoplasmic reticulum lumen Biological process skeletal system development phosphorylation positive regulation of bone mineralization osteoclast maturation biomineral tissue development regulation of fibroblast growth factor receptor signaling pathway dentinogenesis regulation of phosphorus metabolic process protein phosphorylation positive regulation of osteoblast differentiation enamel mineralization odontoblast differentiation ATP metabolic process post-translational protein modification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56975 80752 Ensembl ENSG00000177706 ENSG00000281429 ENSG00000282147 ENSG00000288499 ENSMUSG00000025854 UniProt Q8IXL6 Q5MJS3 RefSeq (mRNA) NM_020223 NM_030565 NM_001359593 RefSeq (protein) NP_064608 NP_085042 NP_001346522 Location (UCSC) Chr 7: 0.19 – 0.26 Mb Chr 5: 138.74 – 138.8 Mb PubMed search [3] [4]
Wikidata
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Family with sequence similarity 20, member C also known as FAM20C or DMP4 is a protein which in humans is encoded by the FAM20C gene.^[5][6][7] Fam20C, a Golgi localized protein kinase, is a serine kinase that phosphorylates both casein and other highly acidic proteins and members of the small integrin-binding ligand, the N-linked glycoproteins (SIBLING) family at the target motif SerXGlu.^[8]

Function

Dmp4 causes differentiation of mesenchymal stem cells into functional odontoblast cells and is likely to function as a regulator of dentin mineralization.^[6][9] FAM20C is a secretory kinase, responsible for the phosphorylation of all secreted proteins, from milk to bone proteins.^[8] Phosphorylation by Fam20C in the secretory pathway is essential for proper biomineralization of bone. The substrate specificity of FAM20C indicates, however, that it is not likely to account for the tyrosine phosphorylation of the secreted protein. The characterization of FAM20C as an active serine kinase in the Golgi apparatus provides a clear precedent that ATP dependent protein phosphorylation can take place in the secretory apparatus.^[8][10][11] Fam20C knockout mice develop severe hypophosphatemic rickets due to an increased renal phosphate wasting that is likely attributed to the remarkable elevation of serum fibroblast growth factor 23 (FGF23),^[12] while their dentin and enamel defects are largely independent from the hypophosphatemia and appear to be a local effects of phosphorylation failure in the secretory calcium-binding phosphoproteins (SCPPs)^[12][13][14]

Clinical significance

Mutations in the FAM20C gene are associated with Raine syndrome.^[7]

References

Further reading