KEGG   Homo sapiens (human): 4091
Entry
4091              CDS       T01001                                 
Symbol
SMAD6, AOVD2, HsT17432, MADH6, MADH7
Name
(RefSeq) SMAD family member 6
  KO
K04677  mothers against decapentaplegic homolog 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
Disease
H00554  Aortic valve disease
H02160  Craniosynostoses
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    4091 (SMAD6)
SSDB
Motif
Pfam: MH2 MH1
Other DBs
NCBI-GeneID: 4091
NCBI-ProteinID: NP_005576
OMIM: 602931
HGNC: 6772
Ensembl: ENSG00000137834
UniProt: O43541
Position
15:66702236..66782849
AA seq 496 aa
MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEV
RPVAPRRPRDAVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESD
CETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL
KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVE
LKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYSRLSPRDEYKPLDLSDSTLSY
TETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVYDQAVSIFYDL
PQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAP
GGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQF
ITSCPCWLEILLNNPR
NT seq 1491 nt   +upstreamnt  +downstreamnt
atgttcaggtccaaacgctcggggctggtgcggcgactttggcgaagtcgtgtggtcccc
gaccgggaggaaggcggcagcggcggcggcggtggcggcgacgaggatgggagcttgggc
agccgagctgagccggccccgcgggcaagagagggcggaggctgcggccgctccgaagtc
cgcccggtagccccgcggcggccccgggacgcagtgggacagcgaggcgcccagggcgcg
gggaggcgccggcgcgcagggggccccccgaggcccatgtcggagccaggggccggcgct
gggagctccctgctggacgtggcggagccgggaggcccgggctggctgcccgagagtgac
tgcgagacggtgacctgctgtctcttttcggagcgggacgccgccggcgcgccccgggac
gccagcgaccccctggccggggcggccctggagccggcgggcggcgggcggagtcgcgaa
gcgcgctcgcggctgctgctgctggagcaggaactcaaaaccgtcacgtactcgctgctg
aagcggctcaaggagcgctcgctggacacgctgctggaggcggtggagtcccgcggcggc
gtgccgggcggctgcgtgctggtgccgcgcgccgacctccgcctgggcggccagcccgcg
ccgccgcagctgctgctcggccgcctctttcgctggcccgacctgcagcacgccgtggag
ctgaagcccctgtgcggctgccacagcttcgccgccgccgccgacggccctaccgtgtgc
tgcaacccctaccacttcagccggctctgcgggcccgaatctccgccacctccctactct
cggctgtctcctcgcgacgagtacaagccactggatctgtccgattccacattgtcttac
actgaaacggaggctaccaactccctcatcactgctccgggtgaattctcagacgccagc
atgtctccggacgccaccaagccgagccactggtgcagcgtggcgtactgggagcaccgg
acgcgcgtgggccgcctctatgcggtgtacgaccaggccgtcagcatcttctacgaccta
cctcagggcagcggcttctgcctgggccagctcaacctggagcagcgcagcgagtcggtg
cggcgaacgcgcagcaagatcggcttcggcatcctgctcagcaaggagcccgacggcgtg
tgggcctacaaccgcggcgagcaccccatcttcgtcaactccccgacgctggacgcgccc
ggcggccgcgccctggtcgtgcgcaaggtgccccccggctactccatcaaggtgttcgac
ttcgagcgctcgggcctgcagcacgcgcccgagcccgacgccgccgacggcccctacgac
cccaacagcgtccgcatcagcttcgccaagggctgggggccctgctactcccggcagttc
atcacctcctgcccctgctggctggagatcctcctcaacaaccccagatag

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