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SMAD5 Gene

protein-coding   GIFtS: 62
GCID: GC05P135470

SMAD Family Member 5

(Previous names: MAD, mothers against decapentaplegic homolog 5 (Drosophila),...)
(Previous symbol: MADH5)
  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)
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Aliases
SMAD Family Member 51 2 3     Mothers Against Decapentaplegic, Drosophila, Homolog Of, 52
MADH51 2 3 5     SMA- And MAD-Related Protein 52
JV5-12 3     SMAD, Mothers Against DPP Homolog 52
MAD, Mothers Against Decapentaplegic Homolog 5 (Drosophila)1     Smad53
SMAD, Mothers Against DPP Homolog 5 (Drosophila)1     hSmad53
DWFC2     MAD Homolog 53
MAD, Mothers Against Decapentaplegic Homolog 52     Mothers Against DPP Homolog 53
Mothers Against Decapentaplegic Homolog 52     SMAD 53

External Ids:    HGNC: 67711   Entrez Gene: 40902   Ensembl: ENSG000001136587   OMIM: 6031105   UniProtKB: Q997173   

Export aliases for SMAD5 gene to outside databases

Previous GC identifers: GC05P135545 GC05P135496 GC05P130657


(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 SMAD5 Gene:
The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results
in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone
morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Feb 2014)

GeneCards Summary for SMAD5 Gene:
SMAD5 (SMAD family member 5) is a protein-coding gene. Diseases associated with SMAD5 include fibrodysplasia ossificans progressiva, and hemochromatosis. GO annotations related to this gene include receptor signaling protein activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SMAD3.

UniProtKB/Swiss-Prot: SMAD5_HUMAN, Q99717
Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5
is a receptor-regulated SMAD (R-SMAD)

Gene Wiki entry for SMAD5 (Mothers against decapentaplegic homolog 5) 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_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMAD5 gene promoter:
         AML1a   FOXD3   Nkx6-1   Ik-2   FOXO4   FOXJ2 (long isoform)   IRF-7A   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMAD5 promoter sequence
   Search Chromatin IP Primers for SMAD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMAD5


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31

SMAD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMAD5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P135470:  view genomic region     (about GC identifiers)

Start:
135,468,534 bp from pter      End:
135,524,435 bp from pter
Size:
55,902 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SMAD5_HUMAN, Q99717 (See protein sequence)
Recommended Name: Mothers against decapentaplegic homolog 5  
Size: 465 amino acids; 52258 Da
Subunit: May form trimers with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit and SMURF1. Interacts with
SUV39H1 and SUV39H2. Interacts (via MH2 domain) with LEMD3. Interacts with WWP1
Secondary accessions: O14688 Q15798 Q9UQA1

Explore the universe of human proteins at neXtProt for SMAD5: NX_Q99717

Explore proteomics data for SMAD5 at MOPED

Post-translational modifications: 

  • Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase1
  • Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF11
  • Ubiquitination2 at Lys418
  • Modification sites at PhosphoSitePlus

  • See SMAD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001001419.1  NP_001001420.1  NP_005894.3  

    ENSEMBL proteins: 
     ENSP00000425749   ENSP00000424279   ENSP00000426696   ENSP00000427330   ENSP00000422954  
     ENSP00000427474   ENSP00000427650   ENSP00000441954   ENSP00000446474  
    Reactome Protein details: Q99717

    SMAD5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SMAD5
    OriGene Custom MassSpec
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    Novus Biologicals SMAD5 Proteins
    Novus Biologicals SMAD5 Lysates
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for SMAD5
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SMAD5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMAD5
    R&D Systems Antibodies for SMAD5
    Cell Signaling Technology (CST) Antibodies for SMAD5 
    OriGene Antibodies for SMAD5
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    Novus Biologicals SMAD5 Antibodies
    Abcam antibodies for SMAD5 (O15198, Q99717)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for SMAD5
    LSBio Antibodies in human, mouse, rat for SMAD5

    SMAD5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SMAD5
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 Q99717

    ProtoNet protein and cluster: Q99717

    1 Blocks protein domain: IPB001132 Dwarfin protein

    UniProtKB/Swiss-Prot: SMAD5_HUMAN, Q99717
    Similarity: Belongs to the dwarfin/SMAD family
    Similarity: Contains 1 MH1 (MAD homology 1) domain
    Similarity: Contains 1 MH2 (MAD homology 2) domain


    SMAD5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMAD5_HUMAN, Q99717
    Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD5
    is a receptor-regulated SMAD (R-SMAD)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005057receptor signaling protein activity NAS8673135
    GO:0005515protein binding IPI15647271
    GO:0030618transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity TAS19018011
         
    SMAD5 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Smad5) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  hematopoietic system  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  normal  reproductive system  skeleton 

    SMAD5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMAD5: Smad5tm1Zuk Smad5tm1.1Huy Smad5tm1Cxd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMAD5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMAD5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMAD5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMAD5

    miRNA
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    miRTarBase miRNAs that target SMAD5:
    hsa-mir-16-5p (MIRT031637), hsa-mir-124-3p (MIRT002600), hsa-mir-130a-3p (MIRT007143), hsa-mir-155-5p (MIRT000973), kshv-mir-k12-11-3p (MIRT006637), hsa-mir-186-5p (MIRT021198)

    Block miRNA regulation of human, mouse, rat SMAD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMAD5 (see all 99):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-106a hsa-miR-15a hsa-miR-128 hsa-miR-374a hsa-miR-519a hsa-miR-93
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMAD5
    Predesigned siRNA for gene silencing in human, mouse, rat SMAD5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMAD5

    Clone
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    OriGene clones in human, mouse for SMAD5 (see all 20)
    OriGene ORF clones in mouse, rat for SMAD5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SMAD5 (NM_005903)
    Sino Biological Human cDNA Clone for SMAD5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD5

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD5


    (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
    SMAD5_HUMAN, Q99717: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when
    complexed with SMAD4
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2
    plasma membrane2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS9759503
    GO:0005634nucleus TAS19018011
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm ----

    SMAD5 for ontologies           About GeneDecksing


    (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 SMAD5 About   (see all 11)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for SMAD5
        Th17 Differentiation
    TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMAD5 (see all 8)
        BMP Pathway
    Cardiomyocyte Differentiation through BMP Receptors
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    JAK-STAT Pathway

    1 Cell Signaling Technology (CST) Pathway for SMAD5
        TGF-beta/Smad Signaling

    5 BioSystems Pathways for SMAD5
        TGF Beta Signaling Pathway
    Id Signaling Pathway
    BMP receptor signaling
    ALK2 signaling events
    ALK1 signaling events

    1 Sino Biological Pathway for SMAD5
        TGF-beta Signaling Pathway

    1 Reactome Pathway for SMAD5
        Signaling by BMP


    1 Kegg Pathway  (Kegg details for SMAD5):
        TGF-beta signaling pathway


    SMAD5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMAD5 (see all 7): 
              Osteogenesis 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
              Transcription Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SMAD5

    Selected Interacting proteins for SMAD5 (Q997172, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD4Q134852, 3MINT-61951 I2D: score=5 
    SMURF2Q9HAU42, 3MINT-61787 I2D: score=5 
    WWP1Q9H0M02, 3MINT-61842 I2D: score=4 
    BCAT1P546872, 3MINT-61838 I2D: score=3 
    CHMP3Q9Y3E72, 3MINT-61837 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification ----
    GO:0001657ureteric bud development IEA--
    GO:0001880Mullerian duct regression IEA--
    GO:0002051osteoblast fate commitment IEA--
    GO:0006351transcription, DNA-templated IEA--

    SMAD5 for ontologies           About GeneDecksing



    (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 SMAD5

    2 Novoseek inferred chemical compound relationships for SMAD5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 41.1 2 11106403 (1), 11889196 (1)
    serine 35.6 5 9442019 (2), 11106403 (1), 11889196 (1), 12893270 (1)



    SMAD5 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMAD5 gene (3 alternative transcripts): 
    NM_001001419.2  NM_001001420.2  NM_005903.6  

    Unigene Cluster for SMAD5:

    SMAD family member 5
    Hs.167700  [show with all ESTs]
    Unigene Representative Sequence: NM_001001419
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514641 ENST00000507118 ENST00000511116 ENST00000514777 ENST00000509962
    ENST00000509297 ENST00000515005 ENST00000506223 ENST00000507245 ENST00000507637
    ENST00000513418 ENST00000545279(uc003lbj.1 uc003lbk.1) ENST00000545620(uc003lbl.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat SMAD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMAD5 (see all 99):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-106a hsa-miR-15a hsa-miR-128 hsa-miR-374a hsa-miR-519a hsa-miR-93
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    Inhib. RNA
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SMAD5 (NM_005903)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD5
    Primer
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    OriGene qPCR primer pairs and template standards for SMAD5
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAD5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMAD5
      QuantiTect SYBR Green Assays in human, mouse, rat SMAD5
      QuantiFast Probe-based Assays in human, mouse, rat SMAD5

    Additional mRNA sequence: 

    AF009678.1 AF009745.1 AF010601.1 AF071106.1 AF071107.1 AF071108.1 AF071109.1 AF071110.1 
    AK311231.1 AK313397.1 BC009682.2 CR457424.1 CR749366.1 CR749473.1 U59913.1 U73825.1 

    12 DOTS entries:

    DT.95159330  DT.215717  DT.113870  DT.95268961  DT.99932610  DT.120890442  DT.101984264  DT.95159329 
    DT.95356476  DT.95159331  DT.99951248  DT.95308208 

    Selected AceView cDNA sequences (see all 255):

    AA373977 BQ008600 AA826510 AU280816 AI783782 BE328506 BQ016193 AF010601 
    AW276576 BF056623 NM_001001420 CA448057 AA236175 BM562760 BX495511 AI225025 
    AI871686 AI240110 AI720362 AI554963 BM976814 AL709170 BQ012232 BG108000 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SMAD5 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
    SP1:                                                                                      -                     
    SP2:                                                                                                            
    SP3:                          -     -     -     -     -     -     -     -     -           -                     
    SP4:                                -                                                                           
    SP5:                          -                                                                                 


    ECgene alternative splicing isoforms for SMAD5

    (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)
    About This Section

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    SMAD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCAATTCT
    SMAD5 Expression
    About this image


    SMAD5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Neurons
             Preganglionic Motor Neurons Preganglionic Column
     
     Spinal Cord (Nervous System)
             Preganglionic Motor Neurons Preganglionic Column
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Primitive Streak (Early Embryo)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
    SMAD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMAD5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.167700

    UniProtKB/Swiss-Prot: SMAD5_HUMAN, Q99717
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMAD5 (see all 7): 
              Osteogenesis 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
              Transcription Factors in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SMAD5
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAD5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMAD5
    QuantiTect SYBR Green Assays in human, mouse, rat SMAD5
    QuantiFast Probe-based Assays in human, mouse, rat SMAD5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD5

    (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 SMAD5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smad51 , 5 MAD homolog 5 (Drosophila)5
    SMAD family member 51
    91.68(n)1
    98.92(a)1
      13 (30.12 cM)5
    171291  NM_008541.31  NP_032567.11 
     567030105 
    chicken
    (Gallus gallus)
    Aves SMAD51 SMAD family member 5 85.52(n)
    96.77(a)
      395679  NM_001014968.1  NP_001014968.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMAD56
    SMAD family member 5
    90(a)
    1 ↔ 1
    GL343223.1(1603442-1633447)
    zebrafish
    (Danio rerio)
    Actinopterygii madh52 MAD homolog 5 (Drosophila) 77.77(n)   30641  AF127920.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mad6
    Mothers against dpp
    64(a)
    many ↔ many
    2L(3146056-3159643)
    worm
    (Caenorhabditis elegans)
    Secernentea sma-26
    Protein SMA-2 (sma-2) mRNA, complete cds
    56(a)
    1 → many
    III(8749771-8757069) WBGene00004856


    ENSEMBL Gene Tree for SMAD5 (if available)
    TreeFam Gene Tree for SMAD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMAD5 gene
    SMAD32  SMAD22  SMAD12  SMAD62  SMAD42  SMAD92  SMAD72  
    9 SIMAP similar genes for SMAD5 using alignment to 7 protein entries:     SMAD5_HUMAN (see all proteins):
    DKFZp781O1323    MADH5    SMAD1    SMAD9    DKFZp586M0622    DKFZp686J10186
    SMAD3    SMAD4    SMAD2

    SMAD5 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), 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 SMAD5 (see all 958)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422518981,2
    --130663296(+) TGTGTA/GTGTGT 3 -- int10--------
    rs1419554481,2
    C--130669697(+) TTTTT-/CTTCCT 3 -- int10--------
    rs1394749871,2
    C--130672412(+) TTGTT-/TCTTTT 3 -- int10--------
    rs171698801,2
    C,F--130672415(+) TTGTTC/TTTTTT 3 -- int1 trp34Minor allele frequency- T:0.39NA 122
    rs680906641,2
    C--130672415(-) AAAAA-/A/GAACAA 3 -- int11NA 2
    rs2017764991,2
    --130672415(+) TGTTC-/TTTTTT 3 -- int10--------
    rs612364671,2
    C--130672416(+) TGTTTT/CTTTTT 3 -- int11Minor allele frequency- C:0.00NA 2
    rs1428960861,2
    C--130675335(+) CCAGT-/GGTTTT 3 -- int10--------
    rs1127092811,2
    C--130683058(+) TCTCAA/-AAAAA 3 -- int11Minor allele frequency- -:0.00CSA 2
    rs1391781201,2
    C--130692541(+) TTTAG-/TTGTT 
            
    TTGTT
    3 -- int10--------

    HapMap Linkage Disequilibrium report for SMAD5 (135468534 - 135524435 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SMAD5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv882932CNV Loss21882294
    nsv508381CNV Loss20534489
    nsv819700CNV Loss19587683
    dgv1853e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMAD5
    DNA2.0 Custom Variant and Variant Library Synthesis for SMAD5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603110    OMIM disorders: --

    Selected diseases for SMAD5 (see all 23):    
    About MalaCards
    fibrodysplasia ossificans progressiva    hemochromatosis    multiple endocrine neoplasia    type 1 diabetes mellitus
    type 1 diabetes    diabetic nephropathy    kaposi's sarcoma    diabetes mellitus
    colorectal cancer    sarcoma    hypertension    schizophrenia
    systemic lupus erythematosus    lupus erythematosus    ovarian cancer    hepatocellular carcinoma
    prostate cancer    endotheliitis    prostatitis    lung cancer

    1 disease from the University of Copenhagen DISEASES database for SMAD5:
    Fibrodysplasia ossificans progressiva

    SMAD5 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for SMAD5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 0 2 9264367 (1), 15061132 (1)
    colorectal cancer 0 2 9264367 (1), 12209988 (1)
    tumors 0 1 9264367 (1)
    cancer 0 2 9264367 (1), 12209988 (1)

    Genetic Association Database (GAD): SMAD5
    Human Genome Epidemiology (HuGE) Navigator: SMAD5 (6 documents)

    Export disorders for SMAD5 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 SMAD5 gene, integrated from 10 sources (see all 156):
    (articles sorted by number of sources associating them with SMAD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mad-related genes in the human. (PubMed id 8673135)1, 2, 3 Riggins G.J.... Vogelstein B.V. (Nat. Genet. 1996)
    2. Smad5 and DPC4 are key molecules in mediating BMP-2-induced osteoblastic differentiation of the pluripotent mesenchymal precursor cell line C2C12. (PubMed id 9442019)1, 2, 9 Nishimura R.... Yoneda T. (J. Biol. Chem. 1998)
    3. Smad5, a tumor suppressor candidate at 5q31.1, is hemizygously lost and not mutated in the retained allele in human leukemia cell line HL60. (PubMed id 9264367)1, 2, 9 Zavadil J.... Michalova K. (Leukemia 1997)
    4. Suv39h histone methyltransferases interact with Smads and cooperate in BMP-induced repression. (PubMed id 15107829)1, 2, 9 Frontelo P....Lechleider R.J. (Oncogene 2004)
    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. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PubMed id 17847004)1, 4, 9 Milet J....Mosser J. (Am. J. Hum. Genet. 2007)
    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. Investigation of DNA polymorphisms in SMAD genes for genetic predisposition to diabetic nephropathy in patients with type 1 diabetes mellitus. (PubMed id 19247629)1, 4 McKnight A.J....Maxwell A.P. (Diabetologia 2009)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    10. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. (PubMed id 15647271)1, 2 Pan D.... Luo K. (J. Biol. Chem. 2005)

    (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: 4090 HGNC: 6771 AceView: SMAD5 Ensembl:ENSG00000113658 euGenes: HUgn4090
    ECgene: SMAD5 Kegg: 4090 H-InvDB: SMAD5

    (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 SMAD5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMAD5 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 SMAD5 gene:
    Search GeneIP for patents involving SMAD5

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



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