Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.
| RefSeq Version | NM_020223.2, 116174741 |
| Length | 2768 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA. |
| Product | dentin matrix protein 4 |
| Comment | COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF533706.1, BC040074.1 and AL390147.1. On Oct 14, 2006 this sequence version replaced gi:32698727. |
| RefSeq | NP_064608.2 |
| CDS | 232..1986 | Exon (1) | 1..836 | Exon (2) | 1..836 | Exon (3) | 837..1015 | Exon (4) | 1016..1094 | Exon (5) | 1095..1187 | Exon (6) | 1188..1303 | Exon (7) | 1304..1484 | Exon (8) | 1485..1594 | Exon (9) | 1595..1676 | Exon (10) | 1677..1736 | Exon (11) | 1737..2751 |
| Translation | MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGW
AQVRGRPGEPPAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERA
LRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASLLARLFEHPLYRVAVPPLTEE
DVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFF
YFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANN
ICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWE
VDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQ
PHLEALDRRLRVVLKAVRDCVERNGLHSVVDDDLDTEHRAASAR
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| Position | Chain | Variation | Link |
| 123 | + | c, t | dbSNP:116903250 |
| 254 | + | a, g | dbSNP:73251052 |
| 493 | + | c, t | dbSNP:13230032 |
| 651 | + | a, g | dbSNP:113842436 |
| 877 | + | a, g | dbSNP:61734970 |
| 905 | + | a, g | dbSNP:61732569 |
| 962 | + | c, t | dbSNP:116181849 |
| 964 | + | a, g | dbSNP:61730252 |
| 1137 | + | c, t | dbSNP:11546478 |
| 1890 | + | g, t | dbSNP:36170987 |
| 1903 | + | c, t | dbSNP:62644536 |
| 1908 | + | c, t | dbSNP:11546480 |
| 1921 | + | a, g | dbSNP:36139924 |
| 2016 | + | a, g | dbSNP:36173075 |
| 2027 | + | c, g | dbSNP:36138803 |
| 2056 | + | c, t | dbSNP:11546477 |
| 2221 | + | a, g | dbSNP:11546481 |
| 2552 | + | a, g | dbSNP:11546479 |
| 2553 | + | c, t | dbSNP:1134015 |
| Gene Symbol | FAM20C |
| Gene Synonym | DKFZp547C074; DMP4; RNS |
| Chromosome | 7 |
| Locus Map | 7p22.3 |
| All Transcripts | NM_020223 |
| 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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