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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

*Business Day

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RefSeq Version NM_020223.3, 358679335
Length 2787 bp
Structure linear
Update Date 04-MAY-2014
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 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. [provided by RefSeq, Apr 2014].


##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
203+a, gdbSNP:367948898
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
888+c, tdbSNP:375009760
889+a, gdbSNP:200381918
905+a, gdbSNP:61732569
940+a, gdbSNP:200225309
962+c, tdbSNP:116181849
963+a, gdbSNP:376874896
964+a, gdbSNP:61730252
970+a, gdbSNP:374098657
1035+dbSNP:
1035+a, gdbSNP:373718419
1113+dbSNP:
1113+c, gdbSNP:369253494
1116+a, gdbSNP:141256626
1137+c, tdbSNP:11546478
1146+c, tdbSNP:150808056
1161+a, gdbSNP:369287929
1179..1182+cctg, tccgcdbSNP:386709047
1257+dbSNP:
1257+c, tdbSNP:377615599
1308+dbSNP:
1308+c, tdbSNP:370916083
1323+c, tdbSNP:137978439
1324+c, gdbSNP:267606795
1356+c, tdbSNP:149513190
1383+c, tdbSNP:373614292
1449+a, tdbSNP:144007479
1459+a, tdbSNP:148276213
1467+c, tdbSNP:141884969
1536+dbSNP:
1536+c, tdbSNP:141959001
1581+c, tdbSNP:144664066
1617+dbSNP:
1617+c, tdbSNP:376430486
1647+a, gdbSNP:140970872
1686+dbSNP:
1686+a, gdbSNP:369693625
1692+a, gdbSNP:373079378
1695+c, tdbSNP:139144760
1719+a, gdbSNP:370400682
1809+dbSNP:
1809+c, gdbSNP:140924363
1883+a, gdbSNP:150231592
1890+g, tdbSNP:36170987
1903+c, tdbSNP:62644536
1908+c, tdbSNP:11546480
1911+c, tdbSNP:371584776
1912+a, gdbSNP:145750007
1921+a, gdbSNP:36139924
1930+c, tdbSNP:369608827
1935+c, tdbSNP:371567802
1947+c, tdbSNP:377281925
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
2098+a, gdbSNP:374362442
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
2497+c, tdbSNP:376495591
2519+a, gdbSNP:151275643
2532+a, gdbSNP:140588788
complement(2542)-g, adbSNP:144420589
2551+c, tdbSNP:185304057
2552+a, gdbSNP:11546479
2553+c, tdbSNP:1134015
2593+a, gdbSNP:371369922
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
XM_005249814 PREDICTED: Homo sapiens family with sequence similarity 20, member C (FAM20C), transcript variant X1, mRNA. On-demand $449.00 14
Title Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification .
Author Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S and Bjerknes R.
Journal J. Bone Miner. Res. 28 (6), 1378-1385 (2013)
Title Secreted kinase phosphorylates extracellular proteins that regulate biomineralization .
Author Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, Xiao J, Grishin NV and Dixon JE.
Journal Science 336 (6085), 1150-1153 (2012)
Title The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins .
Author Ishikawa HO, Xu A, Ogura E, Manning G and Irvine KD.
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
Journal Clin. Genet. 80 (2), 177-183 (2011)
Title Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia .
Author Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H and Crosby AH.
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 MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A and Crosby AH.
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 SI, Sharma S, Cobos E, Beale EG, Du Y and Williams SC.
Journal BMC Genomics 6, 11 (2005)

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