Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56975
Gene name	FAM20C golgi associated secretory pathway kinase
Gene symbol	FAM20C
Synonyms (NCBI Gene)	DMP-4DMP4G-CKGEF-CKRNS
Chromosome	7
Chromosome location	7p22.3
Summary	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

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148276213	T>A,C	Likely-pathogenic, benign, likely-benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs267606795	G>C	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs373614292	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730882220	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs796051849	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs796051850	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs796051851	C>G	Pathogenic	Intron variant, genic downstream transcript variant
rs796051852	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs796051853	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs796051854	G>C	Pathogenic	Intron variant, genic downstream transcript variant
rs796051855	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs796051874	T>A,C	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs796051875	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs797044462	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant

150

Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049711	hsa-miR-92a-3p	CLASH	23622248
MIRT984111	hsa-miR-1205	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT984114	hsa-miR-1972	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT984116	hsa-miR-3173-5p	CLIP-seq
MIRT984117	hsa-miR-3177-5p	CLIP-seq
MIRT984118	hsa-miR-3194-5p	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT984121	hsa-miR-4325	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT984123	hsa-miR-4642	CLIP-seq
MIRT984124	hsa-miR-4690-3p	CLIP-seq
MIRT984125	hsa-miR-4722-5p	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT984127	hsa-miR-509-3p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT984131	hsa-miR-593	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT984121	hsa-miR-4325	CLIP-seq
MIRT1991719	hsa-miR-4420	CLIP-seq
MIRT1991720	hsa-miR-4427	CLIP-seq
MIRT1991721	hsa-miR-4452	CLIP-seq
MIRT1991722	hsa-miR-4660	CLIP-seq
MIRT1991723	hsa-miR-4680-3p	CLIP-seq
MIRT1991724	hsa-miR-4722-3p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT1991725	hsa-miR-646	CLIP-seq
MIRT1991726	hsa-miR-885-3p	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT984121	hsa-miR-4325	CLIP-seq
MIRT984124	hsa-miR-4690-3p	CLIP-seq
MIRT2225771	hsa-miR-4691-5p	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT2225772	hsa-miR-4800-3p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT2225773	hsa-miR-548aa	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT2437150	hsa-miR-4290	CLIP-seq
MIRT2437151	hsa-miR-4428	CLIP-seq
MIRT2437152	hsa-miR-4476	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT2437153	hsa-miR-4533	CLIP-seq
MIRT2437154	hsa-miR-4537	CLIP-seq
MIRT2437155	hsa-miR-4687-5p	CLIP-seq
MIRT2437156	hsa-miR-4738-5p	CLIP-seq
MIRT2437157	hsa-miR-665	CLIP-seq
MIRT2437158	hsa-miR-766	CLIP-seq
MIRT2437159	hsa-miR-767-5p	CLIP-seq
MIRT2465266	hsa-miR-1226	CLIP-seq
MIRT2437156	hsa-miR-4738-5p	CLIP-seq
MIRT2225772	hsa-miR-4800-3p	CLIP-seq
MIRT984111	hsa-miR-1205	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT2529559	hsa-miR-1281	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT2529560	hsa-miR-1914	CLIP-seq
MIRT984114	hsa-miR-1972	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT2529561	hsa-miR-3150a-3p	CLIP-seq
MIRT2529562	hsa-miR-3175	CLIP-seq
MIRT984118	hsa-miR-3194-5p	CLIP-seq
MIRT2529563	hsa-miR-3657	CLIP-seq
MIRT2529564	hsa-miR-3661	CLIP-seq
MIRT2529565	hsa-miR-3688-5p	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT2529566	hsa-miR-3692	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT1991719	hsa-miR-4420	CLIP-seq
MIRT1991720	hsa-miR-4427	CLIP-seq
MIRT1991721	hsa-miR-4452	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT1991722	hsa-miR-4660	CLIP-seq
MIRT2529567	hsa-miR-4667-5p	CLIP-seq
MIRT2529568	hsa-miR-4669	CLIP-seq
MIRT1991723	hsa-miR-4680-3p	CLIP-seq
MIRT984124	hsa-miR-4690-3p	CLIP-seq
MIRT2225771	hsa-miR-4691-5p	CLIP-seq
MIRT2529569	hsa-miR-4698	CLIP-seq
MIRT2529570	hsa-miR-4700-5p	CLIP-seq
MIRT2529571	hsa-miR-4712-3p	CLIP-seq
MIRT1991724	hsa-miR-4722-3p	CLIP-seq
MIRT2529572	hsa-miR-4767	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT2529573	hsa-miR-4786-5p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT2529574	hsa-miR-631	CLIP-seq
MIRT1991725	hsa-miR-646	CLIP-seq
MIRT2529575	hsa-miR-676	CLIP-seq
MIRT2437159	hsa-miR-767-5p	CLIP-seq
MIRT2529576	hsa-miR-769-5p	CLIP-seq
MIRT1991726	hsa-miR-885-3p	CLIP-seq
MIRT2529577	hsa-miR-939	CLIP-seq
MIRT984111	hsa-miR-1205	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT2529559	hsa-miR-1281	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT2529560	hsa-miR-1914	CLIP-seq
MIRT984114	hsa-miR-1972	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT2529561	hsa-miR-3150a-3p	CLIP-seq
MIRT2529562	hsa-miR-3175	CLIP-seq
MIRT2529563	hsa-miR-3657	CLIP-seq
MIRT2529564	hsa-miR-3661	CLIP-seq
MIRT2529565	hsa-miR-3688-5p	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT2529566	hsa-miR-3692	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT1991719	hsa-miR-4420	CLIP-seq
MIRT1991720	hsa-miR-4427	CLIP-seq
MIRT1991721	hsa-miR-4452	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT1991722	hsa-miR-4660	CLIP-seq
MIRT2529567	hsa-miR-4667-5p	CLIP-seq
MIRT2529568	hsa-miR-4669	CLIP-seq
MIRT1991723	hsa-miR-4680-3p	CLIP-seq
MIRT2225771	hsa-miR-4691-5p	CLIP-seq
MIRT2529569	hsa-miR-4698	CLIP-seq
MIRT2529570	hsa-miR-4700-5p	CLIP-seq
MIRT2529571	hsa-miR-4712-3p	CLIP-seq
MIRT1991724	hsa-miR-4722-3p	CLIP-seq
MIRT2529572	hsa-miR-4767	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT2529573	hsa-miR-4786-5p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT2225773	hsa-miR-548aa	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT2529574	hsa-miR-631	CLIP-seq
MIRT1991725	hsa-miR-646	CLIP-seq
MIRT2529575	hsa-miR-676	CLIP-seq
MIRT2437159	hsa-miR-767-5p	CLIP-seq
MIRT2529576	hsa-miR-769-5p	CLIP-seq
MIRT1991726	hsa-miR-885-3p	CLIP-seq
MIRT2529577	hsa-miR-939	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	34349020
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0002020	Function	Protease binding	IPI	34349020
GO:0004672	Function	Protein kinase activity	IDA	34349020
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	22582013, 23754375, 25789606, 26091039, 29858230
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22582013, 25789606, 26091039, 34349020
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	22582013, 34349020
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	22582013
GO:0005794	Component	Golgi apparatus	IEA
GO:0006468	Process	Protein phosphorylation	IDA	23754375, 25789606, 26091039
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	23754375
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031214	Process	Biomineral tissue development	IMP	22582013, 25789606
GO:0036179	Process	Osteoclast maturation	IEA
GO:0040036	Process	Regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051174	Process	Regulation of phosphorus metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0070166	Process	Enamel mineralization	IBA
GO:0070166	Process	Enamel mineralization	IEA
GO:0071895	Process	Odontoblast differentiation	IEA
GO:0097187	Process	Dentinogenesis	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
611061	22140	ENSG00000177706

Q8IXL6

Protein 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)

Protein function

Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the m

PDB

5YH3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06702	Fam20C	353 → 570	Golgi casein kinase, C-terminal, Fam20	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15676076}.

Sequence

MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGW
AQVRGRPGEPPAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERA
LRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASLLARLFEHPLYRVAVPPLTEE
DVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFF
YFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANN
ICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWE
VDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQ
PHLEALDRRLRVVLKAVRDCVERNGLHSVVDDDLDTEHRAASAR

Sequence length

584

Interactions

View interactions

	Reactome
			Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

118

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs730882220	RCV000162130
Cortical dysplasia	Likely pathogenic	rs730882220	RCV000162130
FAM20C-related disorder	Likely pathogenic; Pathogenic	rs2534735106, rs2534710256, rs1785701540, rs1461947497, rs909478150	RCV003418716 RCV003429066 RCV003903976 RCV003983685 RCV003966889
Lethal osteosclerotic bone dysplasia	Pathogenic; Likely pathogenic	rs267606795, rs796051849, rs796051851, rs796051852, rs796051853, rs796051854, rs796051855, rs2115171312, rs1331889066, rs1461947497, rs2534738114, rs2115173146, rs796051874, rs797044462	RCV000001078 RCV000001079 RCV000001081 RCV000001082 RCV000001083 RCV000001084 RCV000001085 RCV002221985 RCV003404897 RCV006271999 RCV003991717 RCV000023860 RCV000023861 RCV000023863
Neonatal death	Likely pathogenic	rs730882220	RCV000162130
Severe brain malformation	Likely pathogenic	rs730882220	RCV000162130

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs143425567, rs61734970	RCV005919857 RCV005889833
Cervical cancer	Benign; Likely benign	rs61734970	RCV005889836
Cholangiocarcinoma	Benign; Likely benign	rs143425567, rs61734970	RCV005919860 RCV005889843
Clear cell carcinoma of kidney	Benign; Likely benign	rs61734970	RCV005889837
Colon adenocarcinoma	Benign; Likely benign	rs61734970, rs200962622	RCV005889832 RCV005902961
Gastric cancer	Benign; Likely benign	rs36156024, rs61734970	RCV005914954 RCV005889839
Hepatocellular carcinoma	Benign; Likely benign	rs61734970	RCV005889834
Hypophosphataemia or rickets	Conflicting classifications of pathogenicity	rs148276213	RCV006436719
Lung cancer	Benign; Likely benign	rs61734970	RCV005889844
Malignant tumor of esophagus	Benign; Likely benign	rs61734970	RCV005889835
Melanoma	Benign; Likely benign	rs61734970	RCV005889842
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs143425567, rs61734970	RCV005919858 RCV005889840
Sarcoma	Benign; Likely benign	rs61734970	RCV005889838
Thymoma	Conflicting classifications of pathogenicity	rs755764751	RCV005930600
Uterine carcinosarcoma	Benign; Likely benign	rs36156024, rs143425567, rs61734970	RCV005914955 RCV005919859 RCV005889841
Uterine corpus endometrial carcinoma	Likely benign	rs1473880741	RCV005925754

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32031203
Amelogenesis imperfecta local hypoplastic form	Associate	25928877
Autoimmune Diseases	Associate	34539672
Bone Diseases Developmental	Associate	37240249
Brain Diseases	Associate	32093234
Calcinosis	Associate	23325605
Craniosynostoses	Associate	27862258
Frontotemporal Dementia	Associate	34539672
Genetic Diseases Inborn	Associate	33676444
Glioma	Associate	32386320, 33306121, 36708808
Glioma of Brain Familial	Associate	33306121
Hypophosphatemia	Associate	23325605, 24706917
Hypophosphatemia Familial	Associate	23325605
Hypophosphatemia Renal with Intracerebral Calcifications	Associate	23325605
Hypoxia	Associate	32031203
Neoplasm Metastasis	Stimulate	36708808
Neoplasms	Associate	32998964, 33306121, 33942849
Neoplastic Syndromes Hereditary	Associate	26543054
Osteosclerosis	Associate	23325605, 25928877
Pancreatic Neoplasms	Associate	32093234
Polyhydramnios	Associate	33676444
Raine syndrome	Associate	22900076, 24706917, 25928877, 27862258, 32093234, 32337609, 33676444, 37240249
Respiratory Insufficiency	Associate	32337609
Stomach Neoplasms	Associate	33306121
Stroke	Associate	38067435
Tooth Demineralization	Associate	23325605
Urinary Bladder Neoplasms	Associate	33306121

FAM20C (FAM20C golgi associated secretory pathway kinase)