Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SMAD5 Gene

protein-coding   GIFtS: 62
GCID: GC05P135496

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)
About This Section

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 GC05P130657


(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 SMAD5 Gene:
The protein encoded by this gene is involved in the TGF-beta signaling pathway that results in an inhibition of
the proliferation of hematopoietic progenitor cells. The encoded protein is activated by BMP type 1 receptor
kinase. Three transcript variants encoding the same protein have been found for this gene. (provided by RefSeq,
Oct 2011)

GeneCards Summary for SMAD5 Gene: 
SMAD5 (SMAD family member 5) is a protein-coding gene. Diseases associated with SMAD5 include fibrodysplasia ossificans progressiva, and type 1 diabetes mellitus, and among its related super-pathways are BMP signalling and regulation and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SMAD5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC05P135496:  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 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: 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
Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when
complexed with SMAD4
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:

  • UniProtKB: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase
  • UniProtKB: Ubiquitin-mediated proteolysis by SMAD-specific E3 ubiquitin ligase SMURF1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99717

  • SMAD5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMAD5 Protein Expression
    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
    Human Recombinant Protein Products for SMAD5: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SMAD5
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SMAD5
    GenScript Custom Purified and Recombinant Proteins Services for SMAD5
    Novus Biologicals SMAD5 Proteins
    Novus Biologicals SMAD5 Lysates
    Sino Biological Recombinant Protein for SMAD5
    Sino Biological Cell Lysate for SMAD5 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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



    SMAD5 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SMAD5
    Cell Signaling Technology (CST) Antibodies for SMAD5 
    OriGene Antibodies for SMAD5
    OriGene Custom Antibody Services for SMAD5
    GenScript Custom Superior Antibodies Services for SMAD5
    Novus Biologicals SMAD5 Antibodies
    Abcam antibodies for SMAD5
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for SMAD5
    LSBio Antibodies in human, mouse, rat for SMAD5 

    Assay Products for SMAD5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMAD5
    R&D Systems ELISAs for SMAD5
    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)
    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 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,
    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: 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): 5/7 molecular function terms (GO ID links to tree view) (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:
         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Smad5):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hematopoietic system  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  normal  reproductive system  skeleton  tumorigenesis 

    SMAD5 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMAD5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    miRTarBase miRNAs that target SMAD5:
    hsa-mir-155 (MIRT000973)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMAD5
    8/99 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMAD5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMAD5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMAD5
    Sirion Biotech Customized adenovirus for overexpression of SMAD5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SMAD5 (see all 22)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of SMAD5 
                         Customized lentivirus expression plasmids for stable overexpression of SMAD5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMAD5
    Search LifeMap BioReagents cell lines for SMAD5
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD5


    (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 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 Transduction0.55
    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 SMAD5
        Th17 Differentiation
    TGF-beta Signaling Pathways


    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
    ALK1 signaling events
    ALK2 signaling events

    1 Sino Biological Pathway for SMAD5 
        TGF-beta Signaling Pathway

    2        Reactome Pathways for SMAD5
        Signal Transduction
    Signaling by BMP


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


    SMAD5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMAD5

    5/56 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): 5/22 biological process terms (GO ID links to tree view) (see all 22):    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-dependent IEA--

    SMAD5 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

    SMAD5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SMAD5

    (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 SMAD5 gene (3 alternative transcripts): 
    NM_001001419.1  NM_001001420.1  NM_005903.5  

    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMAD5
    8/99 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMAD5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMAD5
    Clone
    Products:
         
    OriGene clones in human, mouse for SMAD5 (see all 22)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD5
    Sirion Biotech Customized lentivirus for stable overexpression of SMAD5 
                         Customized lentivirus expression plasmids for stable overexpression of SMAD5 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SMAD5
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAD5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMAD5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMAD5
      QIAGEN 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 

    24/255 AceView cDNA sequences (see all 255):

    AU280816 N67512 NM_005903 AL699748 AI225025 BX495511 AW299361 AA908615 
    BM989713 BC009682 AA373977 BK001394 BX500443 AI720362 BI858593 CB111652 
    CA448057 AI439752 AI683980 AA872136 BM457010 BQ008600 BQ016193 AA765547 

    GeneLoc Exon Structure

    5/7 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™, 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

    SMAD5 expression in normal human tissues (normalized intensities)      SMAD5 embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Ectoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Intraembryonic Ectoderm Cells Ectoderm
     
     Smooth Muscle (Muscoskeletal System)
             Mural Cells Splanchnic Mesoderm
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See SMAD5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMAD5

    SOURCE GeneReport for Unigene cluster: Hs.167700

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

        SABiosciences Expression via Pathway-Focused 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
    Products:
    OriGene qPCR primer pairs and template standards for SMAD5
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAD5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMAD5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMAD5
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMAD5 gene from 5/13 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_001164041.11  NP_001157513.11 
     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
    Uncharacterized protein
    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)
    possible ortholog
    2L(3146056-3159643)


    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)
    About This Section
    Paralogs for SMAD5 gene
    SMAD32  SMAD22  SMAD12  SMAD62  SMAD92  SMAD42  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) 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

    10/958 SNPs in SMAD5 are shown (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

    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 603110    OMIM disorders: --

    19 diseases for SMAD5:    About MalaCards
    fibrodysplasia ossificans progressiva    type 1 diabetes mellitus    hemochromatosis    multiple endocrine neoplasia
    type 1 diabetes    colorectal cancer    diabetes mellitus    kaposi's sarcoma
    schizophrenia    hypertension    endotheliitis    hepatocellular carcinoma
    ovarian cancer    sarcoma    lung cancer    leukemia
    prostate cancer    prostatitis    neuronitis

    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)
    About This Section

    PubMed articles for SMAD5 gene, integrated from 9 sources (see all 143):
    (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. (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. (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. (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. (2004)
    5. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PubMed id 19211612)1, 4, 9 Shintani M....Matsuoka R. (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. (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. (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. (2009)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4090 HGNC: 6771 AceView: SMAD5 Ensembl:ENSG00000113658 euGenes: HUgn4090
    ECgene: SMAD5 Kegg: 4090 H-InvDB: SMAD5

    (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 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
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for SMAD5 (Smad5)   Browse Cell Culture Products  
     ELISAs for SMAD5 (Smad5)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for SMAD5   OriGene RNAi products in human, mouse, rat for SMAD5  
     OriGene qPCR primer pairs and template standards for SMAD5   OriGene Protein Over-expression Lysate for SMAD5  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SMAD5  
     OriGene qSTAR qPCR primer pairs in human, mouse for SMAD5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SMAD5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SMAD5   OriGene Custom Protein Services for SMAD5  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMAD5
     QIAGEN SeqTarget long-range PCR primers for resequencing SMAD5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMAD5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMAD5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMAD5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMAD5
     GenScript Custom Purified and Recombinant Proteins Services for SMAD5 GenScript cDNA clones with any tag delivered in your preferred vector for SMAD5
     GenScript Custom Assay Services for SMAD5 GenScript Custom Superior Antibodies Services for SMAD5
     GenScript Custom overexpressing Cell Line Services for SMAD5 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for SMAD5 

     Regulatory tfbs in SMAD5 promoter
     Search Chromatin IP Primers for SMAD5
     RT2 qPCR Primer Assay in human, mouse, rat SMAD5
     GNC Network for SMAD5
     SABiosciences PCR Arrays including human, mouse, rat SMAD5
     Search Tocris compounds for SMAD5
     Proteins and Antibodies for SMAD5
     Cell Lysates for SMAD5
     cDNA Clones for SMAD5
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SMAD5 antibodies
     SMAD5 proteins
     SMAD5 lysates
     Antibodies for SMAD5
     See all of Abcam's Antibodies, Kits and Proteins for SMAD5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for SMAD5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD5
     Browse SwitchGear 3'UTR luciferase reporter plasmids for SMAD5
     SwitchGear Promoter luciferase reporter plasmids for SMAD5
     ThermoFisher Antibody for SMAD5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD5
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SMAD5
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMAD5
    Customized:
     lentivirus for stable overexpression of SMAD5
     lentivirus expression plasmids for stable overexpression of SMAD5
     adenovirus for overexpression of SMAD5
     LSBio Antibodies in human, mouse, rat for SMAD5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SMAD5 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4