• Gene id: 56975

Gene Summary

• Gene Symbol: FAM20C   Gene   UCSC   Ensembl
• Aliases: DMP-4, DMP4, G-CK, GEF-CK, RNS
• Gene name: FAM20C golgi associated secretory pathway kinase
• Alternate names: extracellular serine/threonine protein kinase FAM20C, Golgi casein kinase, dentin matrix protein 4, family with sequence similarity 20, member C, golgi-enriched fraction casein kinase,
• Gene location: 7p22.3 (192570: 260771)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome
• OMIM: 611061

Protein Summary

• Protein general information: Q8IXL6  
  • Name: Extracellular serine/threonine protein kinase FAM20C (EC 2.7.11.1) (Dentin matrix protein 4) (DMP 4) (Golgi casein kinase) (Golgi enriched fraction casein kinase) (GEF CK)
  • Length: 584  
  • Mass: 66234
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASS
  AAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSES
  PPGPGGDASLLARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPN
  WLKFHIGINRYELYSRHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFF
  YFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEH
  ALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIF
  DFLMGNMDRHHYETFEKFGNETFIIHLDNGRGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLM
  AESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDCVERNGLHSVVDDDLDTEHRAASAR

• Structural information:
  • Interpro: IPR024869  IPR009581  
  • PDB: 5YH3
  • PDBsum: 5YH3
  • STRING: ENSP00000322323
• Other Databases: GeneCards:  FAM20C  Malacards:  FAM20C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070166	enamel mineralization	IBA	biological process
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IBA	molecular function
GO:0016310	phosphorylation	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0031214	biomineral tissue development	IMP	biological process
GO:0031214	biomineral tissue development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031214	biomineral tissue development	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071895	odontoblast differentiation	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0097187	dentinogenesis	IEA	biological process
GO:0071895	odontoblast differentiation	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0070166	enamel mineralization	IEA	biological process
GO:0051174	regulation of phosphorus metabolic process	IEA	biological process
GO:0036179	osteoclast maturation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Raine syndrome	KEGG:H00968
Raine syndrome	KEGG:H00968
X-linked dominant hypophosphatemic rickets	PMID:24710520
Amelogenesis imperfecta	PMID:25928877
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray