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2024-04-25 07:23:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001001557 3716 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens growth differentiation factor 6 (GDF6), mRNA.
ACCESSION NM_001001557 XM_373260
VERSION NM_001001557.2 GI:188219580
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3716)
AUTHORS 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.
TITLE High temperature requirement factor A1 (HTRA1) gene regulates
angiogenesis through transforming growth factor-beta family member
growth differentiation factor 6
JOURNAL J. Biol. Chem. 287 (2), 1520-1526 (2012)
PUBMED 22049084
REMARK GeneRIF: a critical role of HTRA1 in the regulation of angiogenesis
via TGF-beta signaling and identified GDF6 as a novel disease gene
for AMD.
REFERENCE 2 (bases 1 to 3716)
AUTHORS 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.
TITLE Divergent activities of osteogenic BMP2, and tenogenic BMP12 and
BMP13 independent of receptor binding affinities
JOURNAL Growth Factors 29 (4), 128-139 (2011)
PUBMED 21702718
REMARK GeneRIF: studies show that even though tenogenic (BMP 12 and BMP
13) and osteogenic (BMP2) BMPs bind the same receptors with high
affinity they signal much differently and result in differential
activation of osteogenic and tenogenic markers
REFERENCE 3 (bases 1 to 3716)
AUTHORS 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.
TITLE Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50
unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases
JOURNAL Br J Ophthalmol 94 (8), 1100-1104 (2010)
PUBMED 20494911
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 3716)
AUTHORS Haddad-Weber,M., Prager,P., Kunz,M., Seefried,L., Jakob,F.,
Murray,M.M., Evans,C.H., Noth,U. and Steinert,A.F.
TITLE BMP12 and BMP13 gene transfer induce ligamentogenic differentiation
in mesenchymal progenitor and anterior cruciate ligament cells
JOURNAL Cytotherapy 12 (4), 505-513 (2010)
PUBMED 20334610
REMARK GeneRIF: induces ligamentogenic differentiation in mesenchymal
progenitors
REFERENCE 5 (bases 1 to 3716)
AUTHORS Zhang,X., Li,S., Xiao,X., Jia,X., Wang,P., Shen,H., Guo,X. and
Zhang,Q.
TITLE Mutational screening of 10 genes in Chinese patients with
microphthalmia and/or coloboma
JOURNAL Mol. Vis. 15, 2911-2918 (2009)
PUBMED 20057906
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 3716)
AUTHORS 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.
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
JOURNAL J. Clin. Invest. 100 (2), 321-330 (1997)
PUBMED 9218508
REFERENCE 7 (bases 1 to 3716)
AUTHORS Reddi,A.H.
TITLE Cartilage morphogenesis: role of bone and cartilage morphogenetic
proteins, homeobox genes and extracellular matrix
JOURNAL Matrix Biol. 14 (8), 599-606 (1995)
PUBMED 9057810
REMARK Review article
REFERENCE 8 (bases 1 to 3716)
AUTHORS 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.
TITLE Cartilage-derived morphogenetic proteins. New members of the
transforming growth factor-beta superfamily predominantly expressed
in long bones during human embryonic development
JOURNAL J. Biol. Chem. 269 (45), 28227-28234 (1994)
PUBMED 7961761
REFERENCE 9 (bases 1 to 3716)
AUTHORS Storm,E.E., Huynh,T.V., Copeland,N.G., Jenkins,N.A., Kingsley,D.M.
and Lee,S.J.
TITLE Limb alterations in brachypodism mice due to mutations in a new
member of the TGF beta-superfamily
JOURNAL Nature 368 (6472), 639-643 (1994)
PUBMED 8145850
REFERENCE 10 (bases 1 to 3716)
AUTHORS Juberg,R.C. and Gershanik,J.J.
TITLE Cervical vertebral fusion (Klippel-Feil) syndrome with
consanguineous parents
JOURNAL J. Med. Genet. 13 (3), 246-249 (1976)
PUBMED 933127
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AJ537424.1 and AP003465.2.
This sequence is a reference standard in the RefSeqGene project.
On May 15, 2008 this sequence version replaced gi:48475061.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AJ537424.1, CN282698.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-3697 AJ537424.1 1-3697
3698-3698 AP003465.2 27578-27578 c
3699-3716 AJ537424.1 3699-3716
FEATURES Location/Qualifiers
source 1..3716
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q22.1"
gene 1..3716
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/note="growth differentiation factor 6"
/db_xref="GeneID:392255"
/db_xref="HGNC:4221"
/db_xref="HPRD:11002"
/db_xref="MIM:601147"
exon 1..506
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/inference="alignment:Splign:1.39.8"
variation complement(74)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200796417"
CDS 101..1468
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/note="Klippel-Feil malformation; Klip-Feil malformation;
Klippel-Feil syndrome; GDF-6; growth/differentiation
factor 16"
/codon_start=1
/product="growth/differentiation factor 6 precursor"
/protein_id="NP_001001557.1"
/db_xref="GI:48475062"
/db_xref="CCDS:CCDS34926.1"
/db_xref="GeneID:392255"
/db_xref="HGNC:4221"
/db_xref="HPRD:11002"
/db_xref="MIM:601147"
/translation="
MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDAGREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQSSKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGELDAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSAEAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCCVPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR
"
sig_peptide 101..166
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 167..1465
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/product="growth/differentiation factor 6"
misc_feature <374..943
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/note="TGF-beta propeptide; Region: TGFb_propeptide;
pfam00688"
/db_xref="CDD:201395"
misc_feature 1160..1465
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/note="Transforming growth factor-beta (TGF-beta) family;
Region: TGFB; smart00204"
/db_xref="CDD:128500"
variation complement(124)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:369859861"
variation complement(161)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375724225"
variation complement(172)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367719359"
variation complement(190)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:143020575"
variation complement(199..201)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="gtc"
/db_xref="dbSNP:141468446"
variation complement(212)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:139075817"
variation complement(219)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372946584"
variation 225
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:121909354"
variation complement(259)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369474176"
variation complement(261)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143941048"
variation complement(267)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:375108591"
variation complement(268)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:371969433"
variation complement(280)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368712395"
variation complement(330)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:35554903"
variation complement(350)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148321868"
variation complement(355)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:112296824"
variation complement(373)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200398313"
variation complement(381)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:367883918"
variation complement(409)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:374850065"
variation complement(415)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370658707"
variation complement(422)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368498747"
variation complement(456)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140579014"
variation complement(468)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374385671"
exon 507..3701
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/inference="alignment:Splign:1.39.8"
variation complement(518)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:370351474"
variation complement(520)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375769410"
variation complement(529)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375992269"
variation complement(533)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:372590219"
variation complement(535)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369127445"
variation complement(583)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200585226"
variation 695
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:387906794"
variation 846
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:121909352"
variation 858
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:121909355"
variation complement(952)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:74498875"
variation 966
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:63751220"
variation complement(1036)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148861809"
variation complement(1062)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376698111"
variation complement(1064)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200317462"
variation 1080
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:121909356"
variation complement(1125)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369743492"
variation complement(1136)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374231223"
variation complement(1171)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151332138"
variation 1371
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:121909353"
variation complement(1382)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144578143"
variation complement(1402)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138730867"
variation complement(1404)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140782427"
variation complement(1410)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376427985"
variation complement(1470)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:200117791"
variation complement(1496)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367847329"
variation complement(1499)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200800110"
variation complement(1525)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113905230"
variation complement(1612)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115887213"
variation complement(1633)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:117125307"
variation complement(1640)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:115207215"
variation complement(1738..1739)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="tc"
/db_xref="dbSNP:34584360"
variation complement(1739..1740)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="c"
/replace="tc"
/db_xref="dbSNP:71275339"
variation complement(1740..1743)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="tctctc"
/db_xref="dbSNP:3034809"
variation complement(1740)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="c"
/replace="t"
/db_xref="dbSNP:112042997"
variation complement(1742)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188749696"
variation complement(1746)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:113422438"
variation complement(1776..1777)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="tctctctctc"
/replace="tctctctctctc"
/db_xref="dbSNP:33992409"
variation complement(1785..1788)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="ctat"
/db_xref="dbSNP:200531225"
variation complement(1785..1786)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="ct"
/replace="ctct"
/db_xref="dbSNP:34304449"
variation complement(1786..1787)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:10626175"
variation complement(1786..1787)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="ctct"
/db_xref="dbSNP:375245587"
variation complement(1787)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:79053711"
variation complement(1816)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:192913456"
variation complement(1822)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145819797"
variation complement(1848)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2440199"
variation complement(1861)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:367862504"
variation complement(1901)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190630861"
variation complement(1937)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:141772484"
variation complement(2045)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:75587676"
variation complement(2118)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:185707933"
variation complement(2179)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:73698505"
variation complement(2310)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:192657480"
variation complement(2358)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149860626"
variation complement(2359)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376103537"
variation complement(2466)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:114201878"
variation complement(2552)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:77181285"
variation complement(2558)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:80085212"
variation complement(2607)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:186743623"
variation complement(2794)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:183681247"
variation complement(2862)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372865149"
variation complement(2897..2898)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace=""
/replace="ag"
/db_xref="dbSNP:139734303"
variation complement(3139)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:191538930"
variation complement(3446)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112542818"
variation complement(3469)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:36028712"
variation complement(3590)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:183472001"
variation complement(3591)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:117422179"
variation complement(3638)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:141085775"
variation complement(3641)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:368840975"
variation complement(3645)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:191767957"
variation complement(3663)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:114060293"
polyA_signal 3676..3681
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
variation complement(3682)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188995955"
variation complement(3684)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7003079"
variation complement(3696)
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151048799"
polyA_site 3701
/gene="GDF6"
/gene_synonym="BMP13; CDMP2; KFM; KFS; KFS1; KFSL; MCOP4;
MCOPCB6; SCDO4; SGM1"
ORIGIN
cccgaggagccgggccccggccgctgtccagccgctccgtgccccgcgcgtcctgcgccgccgccaccgcctcctggggagacgcagccacttgcccgccatggatactcccagggtcctgctctcggccgtcttcctcatcagttttctgtgggatttgcccggtttccagcaggcttccatctcatcctcctcgtcgtccgccgagctgggttccaccaagggcatgcgaagccgcaaggaaggcaagatgcagcgggcgccgcgcgacagtgacgcgggccgggagggccaggaaccacagccgcggcctcaggacgaaccccgggctcagcagccccgggcgcaggagccgccaggcaggggtccgcgcgtggtgccccacgagtacatgctgtcaatctacaggacttactccatcgctgagaagctgggcatcaatgccagctttttccagtcttccaagtcggctaatacgatcaccagctttgtagacaggggactagacgatctctcgcacactcctctccggagacagaagtatttgtttgatgtgtccatgctctcagacaaagaagagctggtgggcgcggagctgcggctctttcgccaggcgccctcagcgccctgggggccaccagccgggccgctccacgtgcagctcttcccttgcctttcgcccctactgctggacgcgcggaccctggacccgcagggggcgccgccggccggctgggaagtcttcgacgtgtggcagggcctgcgccaccagccctggaagcagctgtgcttggagctgcgggccgcatggggcgagctggacgccggggaggccgaggcgcgcgcgcggggaccccagcaaccgccgcccccggacctgcggagtctgggcttcggccggagggtgcggcctccccaggagcgggccctgctggtggtattcaccagatcccagcgcaagaacctgttcgcagagatgcgcgagcagctgggctcggccgaggctgcgggcccgggcgcgggcgccgaggggtcgtggccgccgccgtcgggcgccccggatgccaggccttggctgccctcgcccggccgccggcggcggcgcacggccttcgccagtcgccatggcaagcggcacggcaagaagtccaggctacgctgcagcaagaagcccctgcacgtgaacttcaaggagctgggctgggacgactggattatcgcgcccctggagtacgaggcctatcactgcgagggtgtatgcgacttcccgctgcgctcgcacctggagcccaccaaccacgccatcatccagacgctgatgaactccatggaccccggctccaccccgcccagctgctgcgtgcccaccaaattgactcccatcagcattctatacatcgacgcgggcaataatgtggtctacaagcagtacgaggacatggtggtggagtcgtgcggctgcaggtagcggtgcctttcccgccgccttggcccggaaccaaggtgggccaaggtccgccttgcaggggaggcctggctgcagagaggcggaggaggaagctggcgctgggggaggctgagggtgagggaacagcctggatgtgagagccggtgggagagaagggagcgcagccttcccagtaacttctacctgccagcccagagggaaatatggattttcacaccttgcctggccaccctggaaaaacaagccaaggaggatttcttttgttctgttttctctctctctctctctctctctctctctctctctctctctctctctattactgtggctttggatttccttatgtgtcttacaggctttgatagaaggggaggggaggagagatgcatacccgtttctcaactgctccatggattgaaaaaataacagtttaaaaagggaaacaatgtgggaggaagaatcaccgttgacgcatcttgatttggttggtttttacatgtgtaaagaaggtggggtctctggccatgtcatagcccatgtcttgtgccctcccacacagaaagtgttagatagggaaattggcaaaaagaatagttaagtcaggaatggtcctgcctatagaagagctttgagagaggtgggcccacgggtgcccctctcacccatttgtgtactctgtgagtttaccagctctgccctggcctctttcggtaccaggaactggcaaccttcatctcactcctgagggcccaggtctctgccttcattgttgctttttctggtgggggcaaggggagctggtatggatggaatgacaagaattagtccaaatggaaccccttgaaggataatgagaaaccacaaggcctgcctctgactggggctgacacggaggtgcattagcccaggctggaggtagcccacccaaatgccctttctgattctaattgatttctttcaacagaatttgccaaaattcagacatgcacttctaaggggaaggtgattttccagttcaaaaaaatgggcaggagtggggaacaaaacaattaacgtaagagctacaaaggagggaaaaggaaccaagaagtagaaggagtcccatcaggagggaagatggtgggcctcagggaggatggggatcaagggacaggccaggagccaggagtggggaagggagggatgaaaggggacacaagtccctgtctctgaagtttctttaaaatctgagttccctcccctctctttgacattcctgaaagattaccagccagcaatagcccagggctcccccaaaagaattggttcagattgtaattatcagttaggcaatgtttttaaaacttagtaatgagaaactgtgaaaagagccaagtgttacattgagcttggggtgggagatggggaacaggcagtgaggaaggagacaggggtggaattcgtcttctgggaggaagctggagagagcacagtgaaattgaaatacccattcccagatagtcaaaaacatgaactttcccccagcctgcaccagtattgttttcaaacattgcccatgagtaggccctttgaagagttagcttcctcctcatctttgactataaaattgtttaatcaatggaatttgtaccagccttttaaaaagttttagtttttcctaagtgattttgctctcttccaatctaaacctgttgcttgtttggttcagagaactacaaactgtcaaagaaagggtggggatgataagaaatgctaatataaaaatgctaagtgaaaaaaagacttggccaggagaaataatttaaaatgcacatttgctttggatgcactgttgttctgttaaggctgtatatatttgtttatttaaggtgactgaaagtgcaaagaggaaatggacagcatgcaattcatcctaatgtacaaaacgttatatgcactcaaatgttataatttctaatatttttaaagtttatattcgagttgtacaaagttaagcattaatcagatatttcattttttcataatgttaccattttcttaaatattattacaaaattttaagtctgtctaatggagagttttttttaaactgtctacctcatataatacaagtatttacaacgctaaagttaccagaggtcaatgaataatcaaaacattttttacagtacacctttcctggatgatatgcaatcgaatgctatattattaaacgcatttttctccttaataaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:392255 -> Molecular function: GO:0005125 [cytokine activity] evidence: IEA
GeneID:392255 -> Molecular function: GO:0008083 [growth factor activity] evidence: IEA
GeneID:392255 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA
GeneID:392255 -> Biological process: GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] evidence: IDA
GeneID:392255 -> Biological process: GO:0030509 [BMP signaling pathway] evidence: IDA
GeneID:392255 -> Biological process: GO:0032924 [activin receptor signaling pathway] evidence: IDA
GeneID:392255 -> Biological process: GO:0040007 [growth] evidence: IEA
GeneID:392255 -> Biological process: GO:0045666 [positive regulation of neuron differentiation] evidence: IEA
GeneID:392255 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
GeneID:392255 -> Biological process: GO:0060389 [pathway-restricted SMAD protein phosphorylation] evidence: IDA
GeneID:392255 -> Cellular component: GO:0005615 [extracellular space] evidence: IEA
by
@meso_cacase at
DBCLS
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