SMAD6 Gene
protein-coding GIFtS : 60
GC15P064781
SMAD family member 6 (Previous names: MAD, mothers against decapentaplegic homolog 6 (Drosophila), SMAD, mothers against DPP homolog 6 (Drosophila) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: MADH7, MADH6 )
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Aliases & Descriptions for SMAD6
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases HsT17432 1 , 2 MADH6 2 , 3 , 5 MADH7 2 Smad6 3 hSMAD6 3
Descriptions MAD (mothers against decapentaplegic, Drosophila) homolog 6 2 MAD, mothers against decapentaplegic homolog 6 (Drosophila) 1 Mothers against DPP homolog 6 3 Mothers against decapentaplegic, drosophila, homolog of, 6 2 SMAD 6 3 SMAD family member 6 2 SMAD, mothers against DPP homolog 6 2 SMAD, mothers against DPP homolog 6 (Drosophila) 1
Search outside databases for aliases for SMAD6 genePrevious GC identifer: GC15P064681
Summaries for SMAD6 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for SMAD6 : The protein encoded by this gene belongs to the SMAD family of proteins, which are related toDrosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins aresignal transducers and transcriptional modulators that mediate multiple signaling pathways. Thisprotein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multipletranscript variants encoding different isoforms have been found for this gene. UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541 Function : Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptorsuperfamily members; has been shown to inhibit selectively BMP (bone morphogenetic proteins)signaling by competing with the co-SMAD SMAD4 for receptor-activated SMAD1. SMAD6 is an inhibitorySMAD (I-SMAD) or antagonistic SMAD. Binds to regulatory elements in target promoter regions
Gene Wiki entry for SMAD6 (Mothers_against_decapentaplegic_homolog_6)
Genomic Location for SMAD6
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SMAD6 gene Entrez Gene cytogenetic band: 15q21-q22 Ensembl cytogenetic band: 15q22.31 HGNC cytogenetic band: 15q21-q22 SMAD6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15P064781:
(about GC identifiers )
Start:
64,781,688 bp from pter
End:
64,861,380 bp from pter
Size:
79,693 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000015.8 NT_010194.16 Proteins for SMAD6
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541 (See
protein sequence )Recommended Name: Mothers against decapentaplegic homolog 6 Size : 496 amino acids; 53497 Da
Subunit : Interacts with NEDD4L (By similarity). Interacts with RNF111 and AXIN1. Interacts withTGF-beta type I receptor superfamily members, SMAD1, HOXC8 and HOXC9. Interacts with STAMBP andPRKX
Subcellular location : Nucleus
Secondary accessions : A9J6M5 O43654 Q15799 Q7Z7L4 Q96E31 Q9UKZ3Alternative splicing : 4 isoforms : O43541-1 O43541-2 O43541-3 O43541-4
Post-translational modifications:
Phosphorylated by BMP type 1 receptor kinase and by PRKX1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001136333.1 NP_005576.3 ENSEMBL proteins: ENSP00000345054 ENSP00000288840 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for SMAD6: Assays for SMAD6:
Protein
Domains/ Families for SMAD6(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O43541 ProtoNet protein and cluster: O43541
1 Blocks protein family : IPB001132 Dwarfin protein UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541 Similarity : Belongs to the dwarfin/SMAD familySimilarity : Contains 1 MH1 (MAD homology 1) domainSimilarity : Contains 1 MH2 (MAD homology 2) domain
Gene Function for SMAD6
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_005585 Applied Biosystems Silencer ® siRNAs for SMAD6 Sigma-Aldrich siRNA for SMAD6 Sigma-Aldrich shRNA for SMAD6 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001142861                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001142861                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001142861  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005585 UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541 Function : Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptorsuperfamily members; has been shown to inhibit selectively BMP (bone morphogenetic proteins)signaling by competing with the co-SMAD SMAD4 for receptor-activated SMAD1. SMAD6 is an inhibitorySMAD (I-SMAD) or antagonistic SMAD. Binds to regulatory elements in target promoter regions
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Smad6) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for SMAD6
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for SMAD6 (Your Favorite Gene powered by Ingenuity) (see all 6
) Gene Network CentralTM Interacting Genes and Proteins Network for SMAD6 5/57 Interacting proteins for SMAD6 (O43541 1 , 2 ENSP00000288840 3 ) via UniProtKB, MINT, and/or STRING (see all 57
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for SMAD6 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for SMAD6 1 Novoseek chemical compound relationship for SMAD6 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine
0.00
1
12397035 (1)
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Transcripts for SMAD6(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_005585 Sigma-Aldrich siRNA for SMAD6 Sigma-Aldrich shRNA for SMAD6 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001142861 NM_005585
REFSEQ mRNAs for SMAD6 gene (2 alternative transcripts): NM_001142861.2 NM_005585.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001142861 NM_005585
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001142861                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001142861                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001142861  
Additional cDNA sequence: AF035528.1 AF037469.1 AF043640.1 AM909653.1 BC012986.2 BC029288.1 U59914.1
4 DOTS entries : DT.448546 DT.40197628 DT.101958886 DT.92016400
24/221 AceView cDNA sequences (see all 221
):AI074483 AW044343 BM704524 BU727453 BF594048 BE467124 AI246158 BF589206 AI193899 BF115451 BQ070275 AW015926 AI268197 AI453564 AI797117 AW182279 BG055424 AI377382 AI199866 AF037469 AI381905 BQ776596 AA007517 AI769301
highest scoring ESTs for SMAD6 :AF035528 AA007517 AA007518 AA045002 AA046567 AA131266 AA131352 AA136175 AA233107 AA243739
Unigene Cluster for SMAD6: SMAD family member 6 Hs.153863 [show with all ESTs ] Unigene Representative Sequence: NM_005585 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000338426
ENST00000288840
Expression for SMAD6
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SMAD6 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SMAD6 1 / 2 / 3
5 probe-sets matching SMAD6 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AAAGAAGAAGSOURCE GeneReport for Unigene cluster: Hs.153863 Expression variation in blood from EXPOLDB for SMAD6
UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541 Tissue specificity : Ubiquitous in various organs, with higher levels in lung. Isoform B isup-regulated in diseased heart tissue
Orthologs for SMAD6
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SMAD6 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for SMAD6 ENSEMBL Gene Tree for SMAD6 Paralogs for SMAD6 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SMAD6 gene SMAD4 2 SMAD7 2
SNPs/Variants for SMAD6 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SMAD6 (up to first 250kb)
Disorders & Mutations for SMAD6
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 602931 5 Novoseek disease relationships for SMAD6 gene
About this table Human Genome Epidemiology Navigator: SMAD6 (6 documents)
Medical News for SMAD6 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SMAD6 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/128 PubMed articles for SMAD6 gene (see all 128
): Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium. (PubMed id 9256479) 1, 2, 3 Topper J.N.... Falb D. (1997) Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads. (PubMed id 11483516) 1, 3, 4 Itoh F.... Itoh S. (2001) Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members. (PubMed id 9712726) 1, 3, 4 Afrakhte M.... ten Dijke P. (1998) Axin is a scaffold protein in TGF-beta signaling that promotes degradation of Smad7 by Arkadia. (PubMed id 16601693) 3, 4 Liu W.... Lin S.-C. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Arkadia amplifies TGF-beta superfamily signaling through degradation of Smad7. (PubMed id 14657019) 3, 4 Koinuma D.... Miyazono K. (2003) TGF-beta signaling by Smad proteins. (PubMed id 10708949) 3, 4 Miyazono K. (2000) The Smad pathway. (PubMed id 10708948) 3, 4 Wrana J.L. and Attisano L. (2000) Smad6 as a transcriptional corepressor. (PubMed id 10722652) 3, 4 Bai S.... Cao X. (2000) Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells. (PubMed id 10647776) 3, 4 Verschueren K. and Huylebroeck D. (1999)
Search for SMAD6
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Genome Databases showing SMAD6
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SMAD6
(According to HUGE )
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Specialized Databases showing SMAD6 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for SMAD6 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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