FAM20C (FAM20C golgi associated secretory pathway kinase)

2014-11-01  

Identity

HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
DMP-4,DMP4,G-CK,GEF-CK,RNS
FUSION GENES

Other Information

Locus ID:

NCBI: 56975
MIM: 611061
HGNC: 22140
Ensembl: ENSG00000177706

Variants:

dbSNP: 56975
ClinVar: 56975
TCGA: ENSG00000177706
COSMIC: FAM20C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177706ENST00000313766Q8IXL6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

References

Pubmed IDYearTitleCitations
225820132012Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.144
247069172014Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis.78
260910392015A Single Kinase Generates the Majority of the Secreted Phosphoproteome.77
179243342007Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.68
206437272010Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.62
229000762012The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.59
233256052013Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.47
257896062015A secretory kinase complex regulates extracellular protein phosphorylation.41
192503842009Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.37
208254322011Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.20

Citation

Dessen P

FAM20C (FAM20C golgi associated secretory pathway kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63130/fam20c