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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMAD9 Gene

protein-coding   GIFtS: 64
GCID: GC13M037418

SMAD Family Member 9

(Previous names: MAD, mothers against decapentaplegic homolog 9 (Drosophila),...)
(Previous symbols: MADH6, MADH9)
  See 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)
About This Section

Aliases
SMAD Family Member 91 2 3     SMAD8B2
MADH61 2 3 5     Mothers Against Decapentaplegic Homolog 92
MADH91 2 3 5     Mothers Against Decapentaplegic, Drosophila, Homolog Of, 92
MAD Homolog 92 3     SMAD, Mothers Against DPP Homolog 92
MAD, Mothers Against Decapentaplegic Homolog 9 (Drosophila)1     Madh63
SMAD, Mothers Against DPP Homolog 9 (Drosophila)1     Smad93
PPH22     Mothers Against DPP Homolog 93
SMAD82     SMAD 93
SMAD8A2     

External Ids:    HGNC: 67741   Entrez Gene: 40932   Ensembl: ENSG000001206937   OMIM: 6032955   UniProtKB: O151983   

Export aliases for SMAD9 gene to outside databases

Previous GC identifers: GC13M035221 GC13M036320 GC13M018230


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMAD9 Gene:
The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family
members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript
variants encoding different isoforms have been found for this gene.(provided by RefSeq, Jan 2010)

GeneCards Summary for SMAD9 Gene: 
SMAD9 (SMAD family member 9) is a protein-coding gene. Diseases associated with SMAD9 include smad9-related heritable pulmonary arterial hypertension, and primary pulmonary hypertension, and among its related super-pathways are BMP signalling and regulation and Signaling by GPCR. GO annotations related to this gene include transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SMAD3.

UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198
Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9
is a receptor-regulated SMAD (R-SMAD)

Gene Wiki entry for SMAD9 (Mothers against decapentaplegic homolog 9) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMAD9 gene promoter:
         HFH-3   AML1a   Lmo2   YY1   FOXI1   SRY   GATA-6   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMAD9 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMAD9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMAD9


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

Entrez Gene cytogenetic band: 13q12-q14   Ensembl cytogenetic band:  13q13.3   HGNC cytogenetic band: 13q12-q14

SMAD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMAD9 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M037418:  view genomic region     (about GC identifiers)

Start:
37,418,968 bp from pter      End:
37,494,902 bp from pter
Size:
75,935 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198 (See protein sequence)
Recommended Name: Mothers against decapentaplegic homolog 9  
Size: 467 amino acids; 52493 Da
Subunit: Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=In the cytoplasm in the absence of
ligand. Migration to the nucleus when complexed with SMAD4 (By similarity)
Secondary accessions: A2A2Y6 O14989 Q5TBA1
Alternative splicing: 2 isoforms:  O15198-1   O15198-2   

Explore the universe of human proteins at neXtProt for SMAD9: NX_O15198

Explore proteomics data for SMAD9 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15198

  • SMAD9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMAD9 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001120689.1  NP_005896.1  

    ENSEMBL proteins: 
     ENSP00000382216   ENSP00000239885   ENSP00000369154  
    Reactome Protein details: O15198
    Human Recombinant Protein Products for SMAD9: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular TAS9256479
    GO:0005634nucleus TAS19018011
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm ----

    SMAD9 for ontologies           About GeneDecksing



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

    5/6 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 O15198

    ProtoNet protein and cluster: O15198

    1 Blocks protein domain: IPB001132 Dwarfin protein

    UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198
    Similarity: Belongs to the dwarfin/SMAD family
    Similarity: Contains 1 MH1 (MAD homology 1) domain
    Similarity: Contains 1 MH2 (MAD homology 2) domain


    SMAD9 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMAD9_HUMAN, O15198
    Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9
    is a receptor-regulated SMAD (R-SMAD)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0030618transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS19018011
    GO:0046872metal ion binding IEA--
         
    SMAD9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMAD9:
     Increased S DNA content, incre 

         12 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Smad9):
     cardiovascular system  craniofacial  embryogenesis  growth/size  immune system 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 
     respiratory system  tumorigenesis 

    SMAD9 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMAD9: Smad9tm1Jfm Smad9tm2.1Rob Smad9tm1.1Mwst

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMAD9 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SMAD9 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    2Signaling by GPCR
    Signal Transduction0.55
    3Th17 Differentiation
    Th17 Differentiation0.47
    4TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    5TGF-beta signaling pathway
    TGF-beta signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for SMAD9
        Th17 Differentiation
    TGF-beta Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for SMAD9
        TGF-beta/Smad Signaling

    4 BioSystems Pathways for SMAD9
        TGF Beta Signaling Pathway
    BMP receptor signaling
    ALK1 signaling events
    ALK2 signaling events


    2        Reactome Pathways for SMAD9
        Signal Transduction
    Signaling by BMP


    1         Kegg Pathway  (Kegg details for SMAD9):
        TGF-beta signaling pathway


    SMAD9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMAD9

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

    5/190 Interacting proteins for SMAD9 (O151982, 3 ENSP000003691544) via UniProtKB, MINT, STRING, and/or I2D (see all 190)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMO4P619682, 3, ENSP000003595734MINT-61932 MINT-62061 I2D: score=4 STRING: ENSP00000359573
    SNRNP70P086212, 3, ENSP000002214484MINT-62151 MINT-61940 I2D: score=4 STRING: ENSP00000221448
    ZEB2O603152, 3, ENSP000003025014MINT-61938 MINT-62073 I2D: score=4 STRING: ENSP00000302501
    CSH1P012432, 3, ENSP000003332684MINT-62064 I2D: score=2 STRING: ENSP00000333268
    CSH2P012432, 3, ENSP000003766234MINT-62064 I2D: score=2 STRING: ENSP00000376623
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0001666response to hypoxia IEA--
    GO:0001880Mullerian duct regression IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----

    SMAD9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMAD9 gene (2 alternative transcripts): 
    NM_001127217.2  NM_005905.5  

    Unigene Cluster for SMAD9:

    SMAD family member 9
    Hs.123119  [show with all ESTs]
    Unigene Representative Sequence: NM_001127217
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399275 ENST00000350148(uc010tep.2) ENST00000483941 ENST00000379826(uc001uvw.3 uc001uvx.3)

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    Additional mRNA sequence: 

    AK095147.1 AK311686.1 AK314920.1 BC011559.1 BC067766.1 BC104760.1 BC104762.1 BC143240.1 
    BC143256.1 D83760.1 D83761.1 

    3 DOTS entries:

    DT.205683  DT.100740782  DT.95368602 

    24/77 AceView cDNA sequences (see all 77):

    CA776471 BU688850 BC011559 BG388323 CA776703 NM_005905 AI619431 D83760 
    BE252922 W95374 CA502976 AU117590 D83761 BX117187 AI142572 Z40593 
    BM461648 BE439820 BM747886 AI090812 AI682538 BU684555 BM802662 AI652112 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SMAD9    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                          -                           
    SP2:                                                      


    ECgene alternative splicing isoforms for SMAD9

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMAD9 expression in normal human tissues (normalized intensities)      SMAD9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTGTGGCC
    SMAD9 Expression
    About this image


    SMAD9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Ectoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Intraembryonic Ectoderm Cells Ectoderm
     
     Epidermis (Integumentary System)
             Surface Ectoderm Cells Surface Ectoderm
     
     Surface Ectoderm (Integumentary System)
             Surface Ectoderm Cells Surface Ectoderm
     
     Spinal Cord (Nervous System)
             Preganglionic Motor Neurons Preganglionic Column

    See SMAD9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMAD9

    SOURCE GeneReport for Unigene cluster: Hs.123119

    UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198
    Tissue specificity: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small
    intestine. Also expressed in fetal brain, lung and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including SMAD9: 
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              Transcription Factors in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMAD9 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smad91 , 5 MAD homolog 9 (Drosophila)5
    SMAD family member 91
    86.98(n)1
    96.74(a)1
      3 (25.62 cM)5
    559941  NM_019483.41  NP_062356.31 
     547555825 
    chicken
    (Gallus gallus)
    Aves SMAD91 SMAD family member 9 81.08(n)
    90.58(a)
      395543  NM_001024826.1  NP_001019997.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMAD96
    SMAD family member 9
    86(a)
    1 ↔ 1
    3(181419818-181458832)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC690162 hypothetical protein MGC69016 79.15(n)    BC057741.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smad91 MAD homolog 9 (Drosophila) 74.96(n)
    83.26(a)
      445564  NM_001004014.1  NP_001004014.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mad6
    Mothers against dpp
    63(a)
    possible ortholog
    2L(3146056-3159643)
    worm
    (Caenorhabditis elegans)
    Secernentea sma-21 Protein SMA-2 56.7(n)
    59.8(a)
      176229  NM_066530.3  NP_498931.2 


    ENSEMBL Gene Tree for SMAD9 (if available)
    TreeFam Gene Tree for SMAD9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMAD9 gene
    SMAD32  SMAD22  SMAD12  SMAD62  SMAD52  SMAD42  SMAD72  
    7 SIMAP similar genes for SMAD9 using alignment to 1 protein entry:     SMAD9_HUMAN:
    SMAD1    SMAD5    DKFZp781O1323    MADH5    DKFZp586M0622    SMAD3
    SMAD2

    SMAD9 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1721 SNPs in SMAD9 are shown (see all 1721)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0668714
    Primary pulmonary hypertension (PPH1)4--see VAR_0668712 K E mis40--------
    rs1118055131,2
    C,F--18363421(+) CTTTCT/CAATAG 2 -- ds50012Minor allele frequency- C:0.03NA 122
    rs1914277411,2
    --18363469(+) AAGTGC/TTCATT 2 -- ds50010--------
    rs1162068341,2
    F--18363498(+) TATCAC/TGTATT 2 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1812527551,2
    --18363644(+) GAATTC/TAACAT 2 -- ds50010--------
    rs1853605211,2
    --18363798(+) ACAGTA/GTAAGT 2 -- ut310--------
    rs1900240521,2
    --18363818(+) ATGGAA/TAACCG 2 -- ut310--------
    rs1117171621,2
    C--18363823(+) TAACCT/GAAGCC 2 -- ut312Minor allele frequency- G:0.33NA CSA 3
    rs2010779651,2
    --18363839(+) ATAAT-/AGAA  
            
    AGCAT
    2 -- ut310--------
    rs128676211,2
    C--18363999(+) TATATA/TTTGCT 2 -- ut312Minor allele frequency- T:0.25NA 4

    HapMap Linkage Disequilibrium report for SMAD9 (37418968 - 37494902 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMAD9:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv268171CNV Insertion20981092
    nsv1006CNV Insertion18451855
    nsv64081CNV Loss16902084
    nsv522336CNV Gain19592680


    Human Gene Mutation Database (HGMD): SMAD9
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMAD9
    DNA2.0 Custom Variant and Variant Library Synthesis for SMAD9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603295   
    OMIM disorders: 178600  
    UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198
  • Primary pulmonary hypertension (PPH1) [MIM:178600]: A rare disorder characterized by plexiform lesions of
    proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial
    pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a
    mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare, cases secondary to known
    etiologies are more common and include those associated with the appetite-suppressant drugs. Note=The disease may
    be caused by mutations affecting the gene represented in this entry

  • 9 diseases for SMAD9:    About MalaCards
    smad9-related heritable pulmonary arterial hypertension    primary pulmonary hypertension    fibrodysplasia ossificans progressiva    hypertension
    hypoxia    lung cancer    endotheliitis    prostate cancer
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for SMAD9:
    Fibrodysplasia ossificans progressiva

    SMAD9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMAD9
    Human Genome Epidemiology (HuGE) Navigator: SMAD9 (2 documents)

    Export disorders for SMAD9 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)
    About This Section

    PubMed articles for SMAD9 gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with SMAD9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel member of the human Mad gene family (MADH6). (PubMed id 9205116)1, 2, 3 Watanabe T.K.... Takahashi E. (1997)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. TGF-beta signaling by Smad proteins. (PubMed id 10708949)1, 2 Miyazono K. (2000)
    5. The Smad pathway. (PubMed id 10708948)1, 2 Wrana J.L. and Attisano L. (2000)
    6. Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells. (PubMed id 10647776)1, 2 Verschueren K. and Huylebroeck D. (1999)
    7. TGF-beta signal transduction. (PubMed id 9759503)1, 2 Massague J. (1998)
    8. Smad8B, a Smad8 splice variant lacking the SSXS site that inhibits Smad8-mediated signalling. (PubMed id 10583507)1, 9 Nishita M....Shibuya H. (1999)
    9. Activated NF-kB in bone marrow mesenchymal stem cells from systemic lupus erythematosus patients inhibits osteogenic differentiation t hrough downregulating Smad signaling. (PubMed id 22897816)1 Tang Y....Sun L. (2013)
    10. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 4093 HGNC: 6774 AceView: SMAD9 Ensembl:ENSG00000120693 euGenes: HUgn4093
    ECgene: SMAD9 Kegg: 4093 H-InvDB: SMAD9

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMAD9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMAD9 gene:
    Search GeneIP for patents involving SMAD9

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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