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SMAD6 Gene

protein-coding   GIFtS: 62
GCID: GC15P066994

SMAD Family Member 6

(Previous names: MAD, mothers against decapentaplegic homolog 6 (Drosophila),...)
(Previous symbols: MADH7, MADH6)
  See SMAD6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SMAD Family Member 61 2 3     MAD, Mothers Against Decapentaplegic Homolog 6 (Drosophila)1
MADH61 2 3 5     SMAD, Mothers Against DPP Homolog 6 (Drosophila)1
MADH71 2     HsT174322
Mothers Against DPP Homolog 62 3     Mothers Against Decapentaplegic Homolog 62
hSMAD62 3     Mothers Against Decapentaplegic, Drosophila, Homolog Of, 62
MAD Homolog 62 3     SMAD, Mothers Against DPP Homolog 62
SMAD 62 3     Smad63
AOVD22 5     

External Ids:    HGNC: 67721   Entrez Gene: 40912   Ensembl: ENSG000001378347   OMIM: 6029315   UniProtKB: O435413   

Export aliases for SMAD6 gene to outside databases

Previous GC identifers: GC15P064681 GC15P064781 GC15P043830


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SMAD6 Gene:
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers
against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional
modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and
TGF-beta/activin-signalling. Multiple transcript variants encoding different isoforms have been found for this
gene.(provided by RefSeq, May 2009)

GeneCards Summary for SMAD6 Gene:
SMAD6 (SMAD family member 6) is a protein-coding gene. Diseases associated with SMAD6 include aortic valve disease 2, and aortic valve disease. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SMAD3.

UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541
Function: Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through
its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated
expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for
receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions

Gene Wiki entry for SMAD6 (Mothers against decapentaplegic homolog 6) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMAD6 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMAD6 promoter sequence
   Search Chromatin IP Primers for SMAD6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMAD6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
SMAD6 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P066994:  view genomic region     (about GC identifiers)

Start:
66,994,566 bp from pter      End:
67,074,338 bp from pter
Size:
79,773 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 WWP1 (By similarity). Interacts with STAMBP and
PRKX. Interacts with RNF111 and AXIN1. Interacts with TGF-beta type I receptor superfamily members, including
ACVR1B, BMPR1B and TGFBR1. In response to BMP2, but not to TGFB treatment, interacts with SMAD1, but not with
SMAD2, nor with SMAD4; this interaction may inhibit SMAD1 binding to SMAD4. Interacts with HOXC8 and HOXC9.
Interacts with PELI1; this interaction interferes with PELI1 complex formation with TRAF6, IRAK1, IRAK4 and MYD88
in response to IL1B and hence negatively regulates IL1R-TLR signaling
Secondary accessions: A9J6M5 O43654 Q15799 Q7Z7L4 Q96E31 Q9UKZ3
Alternative splicing: 3 isoforms:  O43541-1   O43541-2   O43541-4   

Explore the universe of human proteins at neXtProt for SMAD6: NX_O43541

Explore proteomics data for SMAD6 at MOPED

Post-translational modifications: 

  • Phosphorylated by BMP type 1 receptor kinase and by PRKX1
  • Ubiquitinated by WWP1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SMAD6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001136333.1  NP_005576.3  

    ENSEMBL proteins: 
     ENSP00000288840   ENSP00000452955   ENSP00000453446   ENSP00000452694   ENSP00000396961  
     ENSP00000345054  
    Reactome Protein details: O43541

    SMAD6 Human Recombinant Protein Products:

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    Novus Biologicals SMAD6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SMAD6 

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for SMAD6 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SMAD: SMADs

    Selected InterPro protein domains (see all 6):
     IPR013019 MAD_homology_MH1
     IPR008984 SMAD_FHA_domain
     IPR001132 SMAD_dom_Dwarfin-type
     IPR017855 SMAD_dom-like
     IPR013790 Dwarfin

    Graphical View of Domain Structure for InterPro Entry O43541

    ProtoNet protein and cluster: O43541

    1 Blocks protein domain: IPB001132 Dwarfin protein

    UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541
    Similarity: Belongs to the dwarfin/SMAD family
    Similarity: Contains 1 MH1 (MAD homology 1) domain
    Similarity: Contains 1 MH2 (MAD homology 2) domain


    Find genes that share domains with SMAD6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMAD6_HUMAN, O43541
    Function: Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through
    its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated
    expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for
    receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA16491121
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI11483516
    GO:0030617transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity IMP19047146
    GO:0031625ubiquitin protein ligase binding IPI11278251
         
    Find genes that share ontologies with SMAD6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SMAD6:
     Decreased G3BP1 protein expres 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smad6):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    Find genes that share phenotypes with SMAD6           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMAD6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMAD6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMAD6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMAD6

    miRNA
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    miRTarBase miRNAs that target SMAD6:
    hsa-mir-26b-5p (MIRT030225), hsa-mir-520h (MIRT001951)

    Block miRNA regulation of human, mouse, rat SMAD6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMAD6 (see all 30):
    hsa-miR-106a hsa-miR-134 hsa-miR-25 hsa-miR-767-5p hsa-miR-374a hsa-miR-410 hsa-miR-93 hsa-miR-3118
    SwitchGear 3'UTR luciferase reporter plasmidSMAD6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMAD6
    Predesigned siRNA for gene silencing in human, mouse, rat SMAD6

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAD6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD6
    Addgene plasmids for SMAD6 

    Cell Line
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    In Situ Assay
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12095) for SMAD6 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMAD6_HUMAN, O43541: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA16491121
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm TAS19018011
    GO:0005829cytosol TAS--

    Find genes that share ontologies with SMAD6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SMAD6 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    BMP signalling and regulation0.35
    2Signaling by GPCR
    Signal Transduction0.58
    3TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    4TGF-beta signaling pathway (KEGG)
    TGF-beta signaling pathway
    5TGF-beta Receptor Signaling Pathway
    TGF-beta Receptor Signaling Pathway


    Find genes that share SuperPaths with SMAD6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMAD6 (see all 6)
        SMAD Signaling Network
    BMP Pathway
    Molecular Mechanisms of Cancer
    JAK-STAT Pathway
    TGF-Beta Pathway

    Selected BioSystems Pathways for SMAD6 (see all 6)
        TGF Beta Signaling Pathway
    BMP signalling and regulation
    Integrated Breast Cancer Pathway
    TGF-beta Receptor Signaling Pathway
    Integrated Pancreatic Cancer Pathway

    1 Reactome Pathway for SMAD6
        Signaling by BMP


    2 Kegg Pathways  (Kegg details for SMAD6):
        Endocytosis
    TGF-beta signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMAD6: 
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SMAD6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SMAD6 (O435411, 2, 3 ENSP000002888404) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261978 I2D: score=2 
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-61796 I2D: score=5 STRING: ENSP00000262435
    RUNX2Q139501, 3, ENSP000003525144EBI-976374,EBI-976402 I2D: score=2 STRING: ENSP00000352514
    STAMBPO956301, 3, ENSP000003447424EBI-4324970,EBI-396676 I2D: score=2 STRING: ENSP00000344742
    RPS6KA5O755822, 3, ENSP000002619914MINT-8269692 I2D: score=2 STRING: ENSP00000261991
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006955immune response IMP16886151
    GO:0007179transforming growth factor beta receptor signaling pathway IEA--

    Find genes that share ontologies with SMAD6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMAD6

    2 Novoseek inferred chemical compound relationships for SMAD6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 45.8 1 20196115 (1)
    tyrosine 0 1 12397035 (1)



    Find genes that share compounds with SMAD6           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SMAD6 gene (2 alternative transcripts): 
    NM_001142861.2  NM_005585.4  

    Unigene Cluster for SMAD6:

    SMAD family member 6
    Hs.153863  [show with all ESTs]
    Unigene Representative Sequence: NR_027654
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000288840(uc010bhx.3 uc002aqf.3) ENST00000557916 ENST00000559931
    ENST00000558937 ENST00000457357 ENST00000338426(uc002aqg.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SMAD6 (see all 30):
    hsa-miR-106a hsa-miR-134 hsa-miR-25 hsa-miR-767-5p hsa-miR-374a hsa-miR-410 hsa-miR-93 hsa-miR-3118
    SwitchGear 3'UTR luciferase reporter plasmidSMAD6 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for SMAD6 
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    Additional mRNA sequence: 

    AF035528.1 AF037469.1 AF043640.1 AM909653.1 BC012986.2 BC029288.1 NR_027654.1 U59914.1 

    4 DOTS entries:

    DT.448546  DT.40197628  DT.101958886  DT.92016400 

    Selected AceView cDNA sequences (see all 221):

    BF589206 AI074483 AI797117 AI381905 BM704524 BU734250 AW044343 AW182279 
    BI962514 AI453564 BF057319 BG054884 AF037469 AI246158 BM709884 R65624 
    AI275043 AI436355 AI193899 BF594048 AF043640 BQ070275 BG055424 BC012986 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMAD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGAAGAAG
    SMAD6 Expression
    About this image


    SMAD6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Cushion Mesenchymal Cells Endocardium
             Outflow Tract
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced E15 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced E15 cells
    SMAD6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMAD6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.153863

    UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541
    Tissue specificity: Ubiquitous in various organs, with higher levels in lung. Isoform B is up-regulated in
    diseased heart tissue

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMAD6: 
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat SMAD6
    QuantiFast Probe-based Assays in human, mouse, rat SMAD6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMAD6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smad61 , 5 MAD homolog 6 (Drosophila)5
    SMAD family member 61
    91.12(n)1
    93.09(a)1
      9 (34.40 cM)5
    171301  NM_008542.31  NP_032568.31 
     639530765 
    chicken
    (Gallus gallus)
    Aves SMAD61 SMAD family member 6 76.97(n)
    79.15(a)
      374096  NM_204248.1  NP_989579.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMAD66
    SMAD family member 6
    68(a)
    1 ↔ 1
    GL343467.1(205561-242910)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.25932 Xenopus laevis Smad6 mRNA, partial cds 80.04(n)    AF041839.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk08g052 Transcribed sequence with moderate similarity to protein more 83.03(n)    57081833 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dad6
    Daughters against dpp
    24(a)
    1 → many
    3R(12879729-12896135)
    worm
    (Caenorhabditis elegans)
    Secernentea daf-36
    Protein DAF-3, isoform b
    13(a)
    many ↔ many
    X(817927-825475) WBGene00000899


    ENSEMBL Gene Tree for SMAD6 (if available)
    TreeFam Gene Tree for SMAD6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMAD6 gene
    SMAD32  SMAD22  SMAD12  SMAD52  SMAD42  SMAD92  SMAD72  
    1 SIMAP similar gene for SMAD6 using alignment to 4 protein entries:     SMAD6_HUMAN (see all proteins):
    SMAD7

    Find genes that share paralogs with SMAD6           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMAD6 (see all 1664)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0680764
    Aortic valve disease 2 (AOVD2)4--see VAR_0680762 C F mis40--------
    VAR_0680754
    Aortic valve disease 2 (AOVD2)4--see VAR_0680752 P L mis40--------
    rs1875372761,2
    --47049855(+) ACTCAA/GTACGC 2 -- us2k10--------
    rs1467177001,2
    --47049858(+) CAATAC/TGCACG 2 -- us2k10--------
    rs746236411,2
    F--47049859(+) AATACG/ACACGA 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs80419811,2
    C,F,A--47049882(+) GTAATA/CCACAG 2 -- us2k18Minor allele frequency- C:0.19NA CSA WA EA 368
    rs1404093741,2
    --47049898(+) GATAAA/TCCACA 2 -- us2k10--------
    rs1933019691,2
    --47049915(+) ATACAC/TGGGGA 2 -- us2k10--------
    rs1426522251,2
    --47049917(+) ACACGC/GGGATA 2 -- us2k10--------
    rs1510083391,2
    --47049961(+) AAGATA/GTATTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMAD6 (66994566 - 67074338 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SMAD6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904325CNV Loss21882294
    nsv827370CNV Gain20364138

    Human Gene Mutation Database (HGMD): SMAD6
    Locus Specific Mutation Databases (LSDB): SMAD6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMAD6
    DNA2.0 Custom Variant and Variant Library Synthesis for SMAD6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602931   
    OMIM disorders: 614823  
    UniProtKB/Swiss-Prot: SMAD6_HUMAN, O43541
  • Aortic valve disease 2 (AOVD2) [MIM:614823]: A common defect in the aortic valve in which two rather than
    three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency.
    In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in
    hypoplastic left heart syndrome. Note=The disease is caused by mutations affecting the gene represented in this
    entry. SMAD6 variants may contribute to increased risk of congenital cardiovascular malformations (CVM). CVM is a
    major cause of mortality and morbidity in childhood. In most sporadic cases that cannot be attributed to
    particular malformation syndromes or teratogenic exposures, there remains a substantial excess familial risk,
    indicating a significant genetic contribution to disease susceptibility (PubMed:22275001)

  • 2 diseases for SMAD6:    
    About MalaCards
    aortic valve disease 2    aortic valve disease


    Find genes that share disorders with SMAD6           About GenesLikeMe

    5 Novoseek inferred disease relationships for SMAD6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pancreatic cancer 14.8 1 11135319 (1)
    carcinoma squamous cell 0 2 15736400 (1), 14633701 (1)
    renal disease 0 1 12397035 (1)
    hepatocellular carcinoma 0 1 11408948 (1)
    tumors 0 2 10942134 (1), 14633701 (1)

    Genetic Association Database (GAD): SMAD6
    Human Genome Epidemiology (HuGE) Navigator: SMAD6 (9 documents)

    Export disorders for SMAD6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SMAD6 gene, integrated from 10 sources (see all 164):
    (articles sorted by number of sources associating them with SMAD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium. (PubMed id 9256479)1, 3, 9 Topper J.N.... Falb D. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Promoting bone morphogenetic protein signaling through negative regulation of inhibitory Smads. (PubMed id 11483516)1, 2, 9 Itoh F.... Itoh S. (EMBO J. 2001)
    3. Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members. (PubMed id 9712726)1, 2, 9 Afrakhte M.... ten Dijke P. (Biochem. Biophys. Res. Commun. 1998)
    4. Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1. (PubMed id 16951688)1, 2, 9 Choi K.C.... Park S.H. (Nat. Immunol. 2006)
    5. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PubMed id 19211612)1, 4, 9 Shintani M....Matsuoka R. (J. Med. Genet. 2009)
    6. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. (PubMed id 22275001)1, 2 Tan H.L.... Keavney B.D. (Hum. Mutat. 2012)
    7. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    8. Bone mass effects of a Smad6 gene polymorphism in Japanese postmenopausal women. (PubMed id 19277452)1, 4 Urano T....Inoue S. (J. Bone Miner. Metab. 2009)
    9. Genetic susceptibility to keloid scarring: SMAD gene SNP frequencies in Afro-Caribbeans. (PubMed id 18445023)1, 4 Brown J.J....Bayat A. (Exp. Dermatol. 2008)
    10. Minor contribution of SMAD7 and KLF10 variants to genetic susceptibility of type 2 diabetes. (PubMed id 17931948)1, 4 Gutierrez-Aguilar R....Neve B. (amp 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4091 HGNC: 6772 AceView: SMAD6 Ensembl:ENSG00000137834 euGenes: HUgn4091
    ECgene: SMAD6 Kegg: 4091 H-InvDB: SMAD6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SMAD6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMAD6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SMAD6 gene:
    Search GeneIP for patents involving SMAD6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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