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Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_020223 Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_020223.3, 358679335
Length 2787 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.
Product extracellular serine/threonine protein kinase FAM20C precursor
Comment

Summary: This gene encodes a member of the family with sequence similarity 20 (FAM20) family of secreted proteins. A similar gene in mice encodes a protein that plays a role in dentin mineralization, and mutations in the human gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Nov 2011].


##Evidence-Data-START## Transcript exon combination :: AF533706.1, BC040074.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_064608.2
CDS 232..1986
Misc Feature(1)139..141
Misc Feature(2)1291..1926
Misc Feature(3)1291..1926
Misc Feature(4)order(1582..1584,1603..1605,1663..1665)
Misc Feature(5)1594..1620
Misc Feature(6)order(1618..1620,1663..1665)
Misc Feature(7)1663..1731
Exon (1)1..836
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (2)837..1015
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (3)1016..1094
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (4)1095..1187
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (5)1188..1303
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (6)1304..1484
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (7)1485..1594
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (8)1595..1676
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (9)1677..1736
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Exon (10)1737..2780
Gene:FAM20C
Gene Synonym:DMP-4; DMP4; GEF-CK; RNS
Translation MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGW AQVRGRPGEPPAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERA LRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASLLARLFEHPLYRVAVPPLTEE DVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFF YFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANN ICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWE VDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQ PHLEALDRRLRVVLKAVRDCVERNGLHSVVDDDLDTEHRAASAR
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Position Chain Variation Link
123+dbSNP:
123+c, tdbSNP:116903250
129+c, tdbSNP:185095788
254+a, gdbSNP:73251052
277+g, tdbSNP:150401144
483+a, cdbSNP:190382829
493+c, tdbSNP:13230032
651+a, gdbSNP:113842436
831+a, gdbSNP:201631664
862+dbSNP:
862+a, gdbSNP:187691945
872+a, cdbSNP:201436002
877+a, gdbSNP:61734970
884+c, tdbSNP:200962622
889+a, gdbSNP:200381918
905+a, gdbSNP:61732569
940+a, gdbSNP:200225309
962+c, tdbSNP:116181849
964+a, gdbSNP:61730252
1116+dbSNP:
1116+a, gdbSNP:141256626
1137+c, tdbSNP:11546478
1146+c, tdbSNP:150808056
1323+dbSNP:
1323+c, tdbSNP:137978439
1324+c, gdbSNP:267606795
1356+c, tdbSNP:149513190
1449+a, tdbSNP:144007479
1459+a, tdbSNP:148276213
1467+c, tdbSNP:141884969
1536+dbSNP:
1536+c, tdbSNP:141959001
1581+c, tdbSNP:144664066
1647+dbSNP:
1647+a, gdbSNP:140970872
1695+dbSNP:
1695+c, tdbSNP:139144760
1809+dbSNP:
1809+c, gdbSNP:140924363
1883+a, gdbSNP:150231592
1890+g, tdbSNP:36170987
1903+c, tdbSNP:62644536
1908+c, tdbSNP:11546480
1912+a, gdbSNP:145750007
1921+a, gdbSNP:36139924
1980+a, gdbSNP:143027699
2016+a, gdbSNP:36173075
2027+c, gdbSNP:36138803
2031+a, gdbSNP:141144359
2053+a, gdbSNP:190305972
2056+c, tdbSNP:11546477
2076+c, tdbSNP:150747032
2103+c, tdbSNP:139509186
2104+a, gdbSNP:143650974
2192+a, gdbSNP:147183623
2199+a, gdbSNP:182516015
2217+a, gdbSNP:140489559
2221+a, gdbSNP:11546481
2223+c, tdbSNP:185910187
2224+a, gdbSNP:144606574
2227+a, gdbSNP:148728305
2284+c, tdbSNP:142252355
2313+c, tdbSNP:191201474
2462+c, tdbSNP:182205590
2519+a, gdbSNP:151275643
2532+a, gdbSNP:140588788
2542+a, gdbSNP:144420589
2551+c, tdbSNP:185304057
2552+a, gdbSNP:11546479
2553+c, tdbSNP:1134015
2618+c, tdbSNP:150281021
2739+c, tdbSNP:138921693
2777+c, tdbSNP:190165180
Gene SymbolFAM20C
Gene SynonymDMP-4; DMP4; GEF-CK; RNS
Chromosome7
Locus Map7p22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_020223 Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA. On-demand TBD TBD
Title Secreted kinase phosphorylates extracellular proteins that regulate biomineralization .
Author Tagliabracci,V.S., Engel,J.L., Wen,J., Wiley,S.E., Worby,C.A., Kinch,L.N., Xiao,J., Grishin,N.V. and Dixon,J.E.
Journal Science 336 (6085), 1150-1153 (2012)
Title The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins .
Author Ishikawa,H.O., Xu,A., Ogura,E., Manning,G. and Irvine,K.D.
Journal PLoS ONE 7 (8), E42988 (2012)
Title Osteosclerotic bone dysplasia in siblings with a Fam20C mutation .
Author Fradin,M., Stoetzel,C., Muller,J., Koob,M., Christmann,D., Debry,C., Kohler,M., Isnard,M., Astruc,D., Desprez,P., Zorres,C., Flori,E., Dollfus,H. and Doray,B.
Journal Clin. Genet. 80 (2), 177-183 (2011)
Title Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis .
Author Wilkie,A.O., Byren,J.C., Hurst,J.A., Jayamohan,J., Johnson,D., Knight,S.J., Lester,T., Richards,P.G., Twigg,S.R. and Wall,S.A.
Journal Pediatrics 126 (2), E391-E400 (2010)
Title Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia .
Author Simpson,M.A., Scheuerle,A., Hurst,J., Patton,M.A., Stewart,H. and Crosby,A.H.
Journal Clin. Genet. 75 (3), 271-276 (2009)
Title Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development .
Author Simpson,M.A., Hsu,R., Keir,L.S., Hao,J., Sivapalan,G., Ernst,L.M., Zackai,E.H., Al-Gazali,L.I., Hulskamp,G., Kingston,H.M., Prescott,T.E., Ion,A., Patton,M.A., Murday,V., George,A. and Crosby,A.H.
Journal Am. J. Hum. Genet. 81 (5), 906-912 (2007)
Title Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation .
Author Hao,J., Narayanan,K., Muni,T., Ramachandran,A. and George,A.
Journal J. Biol. Chem. 282 (21), 15357-15365 (2007)
Title FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells .
Author Nalbant,D., Youn,H., Nalbant,S.I., Sharma,S., Cobos,E., Beale,E.G., Du,Y. and Williams,S.C.
Journal BMC Genomics 6, 11 (2005)


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