Property Summary

NCBI Gene PubMed Count 27
Grant Count 27
R01 Count 21
Funding $3,621,002.68
PubMed Score 192.21
PubTator Score 40.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
glioblastoma multiforme 1.700 0.000
cystic fibrosis 2.593 0.000
primary pancreatic ductal adenocarcinoma 2.115 0.000
interstitial cystitis 1.800 0.000
adult high grade glioma 1.100 0.004
group 4 medulloblastoma -2.300 0.000
pilocytic astrocytoma 1.600 0.000
Breast cancer -1.200 0.000
ulcerative colitis 1.500 0.000
ovarian cancer 2.100 0.000
pancreatic cancer 1.500 0.003

 OMIM Term (1)

Pathway (1)

Gene RIF (16)

PMID Text
26091039 Using CRISPR/Cas9 genome editing, mass spectrometry, and biochemistry, study identifies more than 100 secreted phosphoproteins as genuine Fam20C substrates; further, study shows that Fam20C exhibits broader substrate specificity than previously appreciated.
25936777 by treating Fam20C expressing HEK293T cells with myriocin, a potent inhibitor of the sphingosine biosynthetic pathway, the activity of Fam20C released into the conditioned medium is substantially decreased corroborating the concept that sphingosine
25928877 phenotype in two families with non-lethal Raine syndrome with FAM20C mutations
25862977 The Fam20C-and VLK-family of kinases mediate the phosphorylation of proteins in the secretory pathway and extracellular space.Mutation in several secretory pathway kinases cause human disease
25789606 Fam20A potentiates Fam20C kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro.
25026495 Results suggest that FAM20C suppresses FGF23 production by enhancing DMP1 expression, and inactivating mutations in FAM20C cause FGF23-related hypophosphatemia by decreasing transcription of DMP1.
24982027 Findings suggest that certain homozygous FAM20C mutations can cause FGF23-related hypophosphatemic osteomalacia and indicate the multiple roles of FAM20C in bone.
24706917 Fam20C phosphorylates FGF23, which promotes FGF23 proteolysis by furin by blocking O-glycosylation by polypeptide N-acetylgalactosaminyltransferase 3.
24039075 We report on a child who is homozygous for a 487-kb deletion in 7p22.3 that contains FAM20C
23325605 mutations in FAM20C provide a putative new mechanism in human subjects leading to dysregulated FGF23 levels, hypophosphatemia, hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis of the long bones
More...

AA Sequence

MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEP      1 - 70
PAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLL     71 - 140
RDPGPRRSESPPGPGGDASLLARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGA    141 - 210
EFLSPGEAAVDSYPNWLKFHIGINRYELYSRHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYG    211 - 280
QALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLW    281 - 350
RTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWE    351 - 420
VDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNGRGFGKYSHDE    421 - 490
LSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC    491 - 560
VERNGLHSVVDDDLDTEHRAASAR                                                  561 - 584
//

Text Mined References (30)

PMID Year Title
26324849 2016 Family with sequence similarity member 20C is the primary but not the only kinase for the small-integrin-binding ligand N-linked glycoproteins in bone.
26091039 2015 A Single Kinase Generates the Majority of the Secreted Phosphoproteome.
25936777 2015 A new role for sphingosine: Up-regulation of Fam20C, the genuine casein kinase that phosphorylates secreted proteins.
25928877 2015 Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
25862977 2015 The secretory pathway kinases.
25789606 2015 A secretory kinase complex regulates extracellular protein phosphorylation.
25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.
25026495 2014 Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.
24982027 2014 Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.
24706917 2014 Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis.
More...