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Homo sapiens growth differentiation factor 6 (GDF6), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001001557 Homo sapiens growth differentiation factor 6 (GDF6), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 TBD

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RefSeq Version NM_001001557.2, 188219580
Length 3716 bp
Structure linear
Update Date 17-APR-2013
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, Jul 2008].

RefSeq NP_001001557.1
CDS 101..1468
Misc Feature(1)<374..943
Misc Feature(2)1160..1465
Exon (1)1..506
Gene:GDF6
Gene Synonym:BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4; MCOPCB6; SCDO4; SGM1
Exon (2)507..3701
Gene:GDF6
Gene Synonym:BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4; MCOPCB6; SCDO4; SGM1
Translation MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR
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Position Chain Variation Link
complement(74)-dbSNP:
complement(74)-g, adbSNP:200796417
complement(190)-g, cdbSNP:143020575
complement(199..201)-, gacdbSNP:141468446
complement(212)-g, cdbSNP:139075817
complement(225)-t, gdbSNP:121909354
complement(261)-g, adbSNP:143941048
complement(330)-t, gdbSNP:35554903
complement(350)-t, cdbSNP:148321868
complement(355)-c, adbSNP:112296824
complement(373)-t, gdbSNP:200398313
complement(456)-t, cdbSNP:140579014
complement(583)-dbSNP:
complement(583)-c, adbSNP:200585226
complement(846)-c, adbSNP:121909352
complement(858)-t, adbSNP:121909355
complement(952)-g, cdbSNP:74498875
complement(966)-t, cdbSNP:63751220
complement(1036)-g, cdbSNP:148861809
complement(1064)-t, cdbSNP:200317462
complement(1080)-c, adbSNP:121909356
complement(1171)-t, cdbSNP:151332138
complement(1371)-g, adbSNP:121909353
complement(1382)-t, cdbSNP:144578143
complement(1402)-g, adbSNP:138730867
complement(1404)-g, adbSNP:140782427
complement(1470)-g, cdbSNP:200117791
complement(1499)-t, gdbSNP:200800110
complement(1525)-t, cdbSNP:113905230
complement(1612)-t, cdbSNP:115887213
complement(1633)-g, adbSNP:117125307
complement(1640)-t, cdbSNP:115207215
complement(1739..1740)-, gadbSNP:71275339
complement(1740)-, g, adbSNP:112042997
complement(1742)-g, adbSNP:188749696
complement(1746)-g, adbSNP:113422438
complement(1776..1777)-, gagagagaga, gagagagagagadbSNP:33992409
complement(1782..1785)-, gagagadbSNP:3034809
complement(1784..1785)-, gadbSNP:34584360
complement(1785..1788)-, atagdbSNP:200531225
complement(1785..1786)-, ag, agagdbSNP:34304449
complement(1786..1787)-t, gdbSNP:10626175
complement(1787)-t, gdbSNP:79053711
complement(1816)-g, adbSNP:192913456
complement(1822)-t, cdbSNP:145819797
complement(1848)-t, cdbSNP:2440199
complement(1901)-t, cdbSNP:190630861
complement(1937)-g, cdbSNP:141772484
complement(2045)-t, adbSNP:75587676
complement(2118)-g, cdbSNP:185707933
complement(2179)-c, adbSNP:73698505
complement(2310)-g, adbSNP:192657480
complement(2358)-g, adbSNP:149860626
complement(2466)-g, cdbSNP:114201878
complement(2552)-t, gdbSNP:77181285
complement(2558)-g, cdbSNP:80085212
complement(2607)-t, cdbSNP:186743623
complement(2794)-g, adbSNP:183681247
complement(2897..2898)-, ctdbSNP:139734303
complement(3139)-g, adbSNP:191538930
complement(3446)-t, cdbSNP:112542818
complement(3469)-t, cdbSNP:36028712
complement(3590)-t, gdbSNP:183472001
complement(3591)-c, adbSNP:117422179
complement(3638)-t, gdbSNP:141085775
complement(3645)-c, adbSNP:191767957
complement(3663)-g, adbSNP:114060293
complement(3682)-g, adbSNP:188995955
complement(3684)-g, adbSNP:7003079
complement(3696)-g, adbSNP:151048799
Gene SymbolGDF6
Gene SynonymBMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4; MCOPCB6; SCDO4; SGM1
Chromosome8
Locus Map8q22.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001001557 Homo sapiens growth differentiation factor 6 (GDF6), mRNA. In-stock $509.00 $460.00 TBD
Title High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-beta family member growth differentiation factor 6 .
Author Zhang,L., Lim,S.L., Du,H., Zhang,M., Kozak,I., Hannum,G., Wang,X., Ouyang,H., Hughes,G., Zhao,L., Zhu,X., Lee,C., Su,Z., Zhou,X., Shaw,R., Geum,D., Wei,X., Zhu,J., Ideker,T., Oka,C., Wang,N., Yang,Z., Shaw,P.X. and Zhang,K.
Journal J. Biol. Chem. 287 (2), 1520-1526 (2012)
Title Divergent activities of osteogenic BMP2, and tenogenic BMP12 and BMP13 independent of receptor binding affinities .
Author Berasi,S.P., Varadarajan,U., Archambault,J., Cain,M., Souza,T.A., Abouzeid,A., Li,J., Brown,C.T., Dorner,A.J., Seeherman,H.J. and Jelinsky,S.A.
Journal Growth Factors 29 (4), 128-139 (2011)
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 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)


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