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SMAD9 Gene

protein-coding   GIFtS: 66
GCID: GC13M037418

SMAD Family Member 9

(Previous names: MAD, mothers against decapentaplegic homolog 9 (Drosophila),...)
(Previous symbols: MADH6, MADH9)
  See SMAD9-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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
PPH22 5     Madh63
MAD, Mothers Against Decapentaplegic Homolog 9 (Drosophila)1     Smad93
SMAD, Mothers Against DPP Homolog 9 (Drosophila)1     Mothers Against DPP Homolog 93
SMAD82     SMAD 93
SMAD8A2     

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

Export aliases for SMAD9 gene to outside databases

Previous GC identifers: GC13M035221 GC13M036320 GC13M018230


(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 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 pulmonary hypertension, primary, 2. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   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 Chromatin IP Primers for SMAD9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase1
  • Ubiquitination2 at Lys159, Lys420
  • Modification sites at PhosphoSitePlus

  • See SMAD9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000382216   ENSP00000239885   ENSP00000369154  
    Reactome Protein details: O15198

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    Browse Proteins at Cloud-Clone Corp.

     
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    (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 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


    Find genes that share domains with SMAD9           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: 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:    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--
         
    Find genes that share ontologies with SMAD9           About GenesLikeMe


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

         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Smad9) (see all 16):
     behavior/neurological  cardiovascular system  craniofacial  embryogenesis  growth/size/body 
     immune system  limbs/digits/tail  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with SMAD9           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMAD9
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    miRNA
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    miRTarBase miRNAs that target SMAD9:
    hsa-mir-106b-5p (MIRT020446)

    Block miRNA regulation of human, mouse, rat SMAD9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMAD9 (see all 24):
    hsa-miR-498 hsa-miR-495 hsa-miR-520f hsa-miR-892b hsa-miR-128 hsa-miR-512-3p hsa-miR-144 hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmidSMAD9 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat SMAD9

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    Sino Biological Human cDNA Clone for SMAD9
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD9


    (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
    SMAD9_HUMAN, O15198: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion2
    plasma membrane2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (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 ----

    Find genes that share ontologies with SMAD9           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 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 Transduction0.58
    3Th17 Differentiation
    Th17 Differentiation0.47
    4TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    5TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling


    Find genes that share SuperPaths with SMAD9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMAD9 (see all 6)
        BMP Pathway
    Cardiomyocyte Differentiation through BMP Receptors
    Molecular Mechanisms of Cancer
    JAK-STAT Pathway
    TGF-Beta Pathway

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

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


    1 Reactome Pathway for SMAD9
        Signaling by BMP


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMAD9: 
              Stem Cell Signaling in human mouse rat
              Transcription Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SMAD9

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

    Selected Interacting proteins for SMAD9 (O151981, 2, 3 ENSP000003691544) via UniProtKB, MINT, STRING, and/or I2D (see all 215)
    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): Selected biological process terms (see all 16):    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-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----

    Find genes that share ontologies with SMAD9           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 SMAD9



    (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 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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    Selected qRT-PCR Assays for microRNAs that regulate SMAD9 (see all 24):
    hsa-miR-498 hsa-miR-495 hsa-miR-520f hsa-miR-892b hsa-miR-128 hsa-miR-512-3p hsa-miR-144 hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmidSMAD9 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat SMAD9

    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 

    Selected AceView cDNA sequences (see all 77):

    CA776471 CA502976 AI619431 BU688850 NM_005905 CA776703 AU117590 BX117187 
    BG388323 D83760 BC011559 W95374 D83761 BE252922 AI142572 BC067766 
    BM739654 BM738576 BM739626 CD677698 BM564512 Z40593 AA659920 BE618924 

    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™, 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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    SMAD9 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Neurons
             Preganglionic Motor Neurons Preganglionic Column
     
     Spinal Cord (Nervous System)
             Preganglionic Motor Neurons Preganglionic Column
     
     NULL (Uncategorized)
             Endoderm progenitor-like cells
    SMAD9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMAD9 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMAD9: 
              Stem Cell Signaling in human mouse rat
              Transcription Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD9

    (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 SMAD9 gene from Selected species (see all 14)    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_019483.51  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)
    many ↔ many
    2L(3146056-3159643)
    worm
    (Caenorhabditis elegans)
    Secernentea sma-21 sma-2 56.72(n)
    59.7(a)
      176229  NM_066530.4  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)
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    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

    Find genes that share paralogs with SMAD9           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 SMAD9 (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
    Pulmonary hypertension, primary, 2 (PPH2)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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603295   
    OMIM disorders: 615342  
    UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198
  • Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]: 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 pulmonary hypertension 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

  • 4 diseases for SMAD9:    
    About MalaCards
    smad9-related heritable pulmonary arterial hypertension    pulmonary hypertension, primary, 2    heritable pulmonary arterial hypertension    acinar cell carcinoma

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

    Find genes that share disorders with SMAD9           About GenesLikeMe

    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)
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    PubMed articles for SMAD9 gene, integrated from 10 sources (see all 37):
    (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. (Genomics 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. (Mol. Med. 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. (Genome Res. 2004)
    4. TGF-beta signaling by Smad proteins. (PubMed id 10708949)1, 2 Miyazono K. (Cytokine Growth Factor Rev. 2000)
    5. The Smad pathway. (PubMed id 10708948)1, 2 Wrana J.L. and Attisano L. (Cytokine Growth Factor Rev. 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. (Cytokine Growth Factor Rev. 1999)
    7. TGF-beta signal transduction. (PubMed id 9759503)1, 2 Massague J. (Annu. Rev. Biochem. 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. (amp 1999)
    9. Activated NF-I_B in bone marrow mesenchymal stem cells from systemic lupus erythematosus patients inhibits osteogenic differentiation through downregulating Smad signaling. (PubMed id 22897816)1 Tang Y....Sun L. (Stem Cells Dev. 2013)
    10. Impaired glycolytic metabolism causes chondrocyte hypertrophy-like changes via promotion of phospho-Smad1/5/8 translocation into nucleus. (PubMed id 23384547)1 Nishida T....Takigawa M. (Osteoarthr. Cartil. 2013)

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

    (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)
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    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.)
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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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