Property Summary

NCBI Gene PubMed Count 27
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 1.0e-16
cystic fibrosis 2.593 3.2e-07
primary pancreatic ductal adenocarcinoma 2.115 4.5e-04
interstitial cystitis 1.800 3.6e-04
adult high grade glioma 1.100 3.8e-03
group 4 medulloblastoma -2.300 6.6e-06
pilocytic astrocytoma 1.600 6.1e-09
Breast cancer -1.200 7.4e-05
ulcerative colitis 1.500 1.2e-04
ovarian cancer 2.100 8.5e-07
pancreatic cancer 1.500 2.6e-03

 OMIM Phenotype (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
22900076 Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome.
22582013 Fam20C appears to be the Golgi casein kinase that phosphorylates secretory pathway proteins within S-x-E motifs; Fam20C phosphorylates caseins and several secreted proteins implicated in biomineralization; mutations in Fam20C cause an osteosclerotic bone dysplasia known as Raine syndrome
20825432 Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
20643727 Observational study of gene-disease association. (HuGE Navigator)
19250384 Mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis.
17924334 This study defines the causative role of FAM20C in this lethal osteosclerotic disorder and its crucial role in normal bone development.

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.
24039075 2013 Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
23754375 2013 Crystal structure of the Golgi casein kinase.
23325605 2013 Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.
22900076 2012 The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.
22582013 2012 Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.
20825432 2011 Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
19250384 2009 Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17924334 2007 Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
17369251 2007 Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.
15676076 2005 FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.