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

  All links  
Disease (4)   
   OMIM (4)   
Gene (24)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (33)   
   RefSeq(nuc) (7)   
   GenBank (13)   
   EMBL (13)   
Protein domain (2)   
   Pfam (2)   
All databases (68)   

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KEGG   Homo sapiens (human): 4092
Entry
4092              CDS       T01001                                 
Symbol
SMAD7, CRCS3, MADH7, MADH8
Name
(RefSeq) SMAD family member 7
  KO
K19631  mothers against decapentaplegic homolog 7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
Disease
H00020  Colorectal cancer
Drug target
Mongersen (DG02694): D10955 D10956
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    4092 (SMAD7)
   04390 Hippo signaling pathway
    4092 (SMAD7)
SSDB
Motif
Pfam: MH2 MH1
Other DBs
NCBI-GeneID: 4092
NCBI-ProteinID: NP_005895
OMIM: 602932
HGNC: 6773
Ensembl: ENSG00000101665
UniProt: O15105
Structure
Position
18:complement(48919853..48950965)
AA seq 426 aa
MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGC
CLGKAVRGAKGHHHPHPPAAGAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGG
TRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLCKVFRWPDLRHSSEVKRLCCC
ESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADCPDAVPSSAETGGTNY
LAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQ
LNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKV
FPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLE
VIFNSR
NT seq 1281 nt   +upstreamnt  +downstreamnt
atgttcaggaccaaacgatctgcgctcgtccggcgtctctggaggagccgtgcgcccggc
ggcgaggacgaggaggagggcgcagggggaggtggaggaggaggcgagctgcggggagaa
ggggcgacggacagccgagcgcatggggccggtggcggcggcccgggcagggctggatgc
tgcctgggcaaggcggtgcgaggtgccaaaggtcaccaccatccccacccgccagccgcg
ggcgccggcgcggccgggggcgccgaggcggatctgaaggcgctcacgcactcggtgctc
aagaaactgaaggagcggcagctggagctgctgctccaggccgtggagtcccgcggcggg
acgcgcaccgcgtgcctcctgctgcccggccgcctggactgcaggctgggcccgggggcg
cccgccggcgcgcagcctgcgcagccgccctcgtcctactcgctccccctcctgctgtgc
aaagtgttcaggtggccggatctcaggcattcctcggaagtcaagaggctgtgttgctgt
gaatcttacgggaagatcaaccccgagctggtgtgctgcaacccccatcaccttagccga
ctctgcgaactagagtctcccccccctccttactccagatacccgatggattttctcaaa
ccaactgcagactgtccagatgctgtgccttcctccgctgaaacagggggaacgaattat
ctggcccctggggggctttcagattcccaacttcttctggagcctggggatcggtcacac
tggtgcgtggtggcatactgggaggagaagacgagagtggggaggctctactgtgtccag
gagccctctctggatatcttctatgatctacctcaggggaatggcttttgcctcggacag
ctcaattcggacaacaagagtcagctggtgcagaaggtgcggagcaaaatcggctgcggc
atccagctgacgcgggaggtggatggtgtgtgggtgtacaaccgcagcagttaccccatc
ttcatcaagtccgccacactggacaacccggactccaggacgctgttggtacacaaggtg
ttccccggtttctccatcaaggctttcgactacgagaaggcgtacagcctgcagcggccc
aatgaccacgagtttatgcagcagccgtggacgggctttaccgtgcagatcagctttgtg
aagggctggggccagtgctacacccgccagttcatcagcagctgcccgtgctggctagag
gtcatcttcaacagccggtag

  All links  
Disease (2)   
   OMIM (2)   
Gene (20)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (22)   
   RefSeq(nuc) (6)   
   GenBank (8)   
   EMBL (8)   
3D Structure (7)   
   PDB (7)   
Protein domain (2)   
   Pfam (2)   
All databases (61)   

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