Sequence in raw or FASTA format:
Homo sapiens growth differentiation factor 6 (GDF6), mRNA.
| RefSeq Version | NM_001001557.2, 188219580 |
| Length | 3716 bp |
| Structure | linear |
| Update Date | 21-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens growth differentiation factor 6 (GDF6), mRNA. |
| Product | growth/differentiation factor 6 precursor |
| Comment | Summary: This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq]. |
| RefSeq | NP_001001557.1 |
| CDS | 101..1468 | Exon (1) | 1..506 | Exon (2) | 1..506 | Exon (3) | 507..3701 |
| Translation | MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA
GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS
SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP
AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA
EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH
VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC
VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| 225 | + | g, t | dbSNP:121909354 |
| complement(330) | - | t, g | dbSNP:35554903 |
| complement(355) | - | c, a | dbSNP:112296824 |
| 846 | + | a, c | dbSNP:121909352 |
| 858 | + | a, t | dbSNP:121909355 |
| complement(952) | - | g, c | dbSNP:74498875 |
| 966 | + | c, t | dbSNP:63751220 |
| 1080 | + | a, c | dbSNP:121909356 |
| 1371 | + | a, g | dbSNP:121909353 |
| complement(1525) | - | t, c | dbSNP:113905230 |
| complement(1612) | - | t, c | dbSNP:115887213 |
| complement(1633) | - | g, a | dbSNP:117125307 |
| complement(1640) | - | t, c | dbSNP:115207215 |
| complement(1738..1739) | - | , ga | dbSNP:72255823 |
| complement(1739..1740) | - | , ga | dbSNP:71275339 |
| complement(1740..1743) | - | , gagaga | dbSNP:3034809 |
| complement(1740) | - | , a | dbSNP:112042997 |
| complement(1746) | - | g, a | dbSNP:113422438 |
| complement(1774..1775) | - | , ga | dbSNP:34584360 |
| complement(1775..1776) | - | , ag | dbSNP:35793035 |
| complement(1776..1777) | - | , gagagagaga, gagagagagaga | dbSNP:33992409 |
| complement(1777..1778) | - | , ag | dbSNP:34304449 |
| complement(1785..1786) | - | , agag | dbSNP:34433092 |
| complement(1786..1787) | - | , agag | dbSNP:10626175 |
| complement(1787) | - | t, g | dbSNP:79053711 |
| complement(1801) | - | c, a | dbSNP:74841378 |
| complement(1848) | - | t, c | dbSNP:2440199 |
| complement(2045) | - | t, a | dbSNP:75587676 |
| complement(2179) | - | c, a | dbSNP:73698505 |
| complement(2466) | - | g, c | dbSNP:114201878 |
| complement(2552) | - | t, g | dbSNP:77181285 |
| complement(2558) | - | g, c | dbSNP:80085212 |
| complement(3446) | - | t, c | dbSNP:112542818 |
| complement(3469) | - | t, c | dbSNP:36028712 |
| complement(3591) | - | c, a | dbSNP:117422179 |
| complement(3663) | - | g, a | dbSNP:114060293 |
| complement(3684) | - | g, a | dbSNP:7003079 |
| Gene Symbol | GDF6 |
| Gene Synonym | BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4; MCOPCB6; MGC158100; MGC158101; SCDO4; SGM1 |
| Chromosome | 8 |
| Locus Map | 8q22.1 |
| All Transcripts | NM_001001557 |
| Title | A large-scale candidate gene association study of age at menarche and age at natural menopause . |
| Author | He,C., Kraft,P., Chasman,D.I., Buring,J.E., Chen,C., Hankinson,S.E., Pare,G., Chanock,S., Ridker,P.M. and Hunter,D.J. |
| Journal | Hum. Genet. 128 (5), 515-527 (2010) |
| Title | Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases . |
| Author | Gonzalez-Rodriguez,J., Pelcastre,E.L., Tovilla-Canales,J.L., Garcia-Ortiz,J.E., Amato-Almanza,M., Villanueva-Mendoza,C., Espinosa-Mattar,Z. and Zenteno,J.C. |
| Journal | Br J Ophthalmol 94 (8), 1100-1104 (2010) |
| Title | BMP12 and BMP13 gene transfer induce ligamentogenic differentiation in mesenchymal progenitor and anterior cruciate ligament cells . |
| Author | Haddad-Weber,M., Prager,P., Kunz,M., Seefried,L., Jakob,F., Murray,M.M., Evans,C.H., Noth,U. and Steinert,A.F. |
| Journal | Cytotherapy 12 (4), 505-513 (2010) |
| Title | Sexual dimorphism in the effect of GDF-6 deficiency on murine tendon . |
| Author | Mikic,B., Rossmeier,K. and Bierwert,L. |
| Journal | J. Orthop. Res. 27 (12), 1603-1611 (2009) |
| Title | Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma . |
| Author | Zhang,X., Li,S., Xiao,X., Jia,X., Wang,P., Shen,H., Guo,X. and Zhang,Q. |
| Journal | Mol. Vis. 15, 2911-2918 (2009) |
| Title | Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family . |
| Author | Wolfman,N.M., Hattersley,G., Cox,K., Celeste,A.J., Nelson,R., Yamaji,N., Dube,J.L., DiBlasio-Smith,E., Nove,J., Song,J.J., Wozney,J.M. and Rosen,V. |
| Journal | J. Clin. Invest. 100 (2), 321-330 (1997) |
| Title | Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix . |
| Author | Reddi,A.H. |
| Journal | Matrix Biol. 14 (8), 599-606 (1995) |
| Title | Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development . |
| Author | Chang,S.C., Hoang,B., Thomas,J.T., Vukicevic,S., Luyten,F.P., Ryba,N.J., Kozak,C.A., Reddi,A.H. and Moos,M. Jr. |
| Journal | J. Biol. Chem. 269 (45), 28227-28234 (1994) |
| Title | Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily . |
| Author | Storm,E.E., Huynh,T.V., Copeland,N.G., Jenkins,N.A., Kingsley,D.M. and Lee,S.J. |
| Journal | Nature 368 (6472), 639-643 (1994) |
| Title | Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents . |
| Author | Juberg,R.C. and Gershanik,J.J. |
| Journal | J. Med. Genet. 13 (3), 246-249 (1976) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |