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

SMAD5 Gene

protein-coding   GIFtS: 64
GCID: GC05P135496

SMAD family member 5

(Previous names: MAD, mothers against decapentaplegic homolog 5 (Drosophila),...)
(Previous symbol: MADH5)
 Explore 17 diseases affiliated with
SMAD5 via our new
 Human Malady Compendium 
Biological research products
for SMAD5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
JV5-11 2 3     SMAD, Mothers Against DPP Homolog 52
Dwfc1     Smad53
MAD, Mothers Against Decapentaplegic Homolog 5 (Drosophila)1     HSmad51
SMAD, Mothers Against DPP Homolog 5 (Drosophila)1     MAD Homolog 53
DWFC2     Mothers Against DPP Homolog 53
MAD, Mothers Against Decapentaplegic Homolog 52     SMAD 53
Mothers Against Decapentaplegic Homolog 52     

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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99717

  • SMAD5 Protein expression data from MOPED and PaxDb:    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: 
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    Uscn Proteins for SMAD5

    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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SMAD5 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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:
         Mouse knock-outs for SMAD5: Smad5tm1Zuk Smad5tm1.1Huy Smad5tm1Cxd
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SMAD5 

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    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, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
    Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling1.00
    ALK2 signaling events0.31
    Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/80.38
    2Signaling by BMP
    Signaling by BMP1.00
    BMP receptor signaling0.31
    3TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling1.00
    4Id Signaling Pathway
    Id Signaling Pathway1.00
    5TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    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
    ALK2 signaling events
    ALK1 signaling events
    BMP receptor signaling

    4        Reactome Pathways for SMAD5
        Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/8
    Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
    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): 5/21 biological process terms (GO ID links to tree view) (see all 21):    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, 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 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)


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    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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    Additional cDNA 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.101984264  DT.120890442  DT.95159329 
    DT.95356476  DT.95159331  DT.99951248  DT.95308208 

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

    BQ012232 BG108000 CA435861 NM_005903 BI858593 BM562760 AI240110 BF056623 
    NM_001001420 AA236175 BX495511 AF009678 AA373977 AU280816 AA826510 AL699748 
    AI439752 BE328506 BP870499 AA872136 AI683980 BM457010 AA765547 BK001394 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTCAATTCT
    SMAD5 Expression
    About this image

    SMAD5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordPreganglionic ColumnPreganglionic Motor NeuronsMotor Neurons
    Extraembryonic MesodermExtraembryonic MesodermExtraembryonic Mural CellsExtraembryonic Tissues
    Lateral Plate MesodermSplanchnic MesodermMural CellsPericytes, Smooth Muscle
    BrainCerebral CortexBrain
    KidneyMetanephrosKidney
    LiverLiver BudLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMAD5 gene from 6/20 species (see all 20)    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
    --
    95(a)
    1 ↔ 1
    GL343223.1(1603556-1614876)
    zebrafish
    (Danio rerio)
    Actinopterygii madh52 MAD homolog 5 (Drosophila) 77.77(n)   30641  AF127920.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mad6
    Mothers against dpp
    63(a)
    1 → many
    2L(3146056-3159643)
    worm
    (Caenorhabditis elegans)
    Secernentea sma-26
    sma-36
    Dwarfin sma-3
    55(a)
    47(a)
    many ↔ many
    many ↔ many
    III(8749691-8756988)
    III(6860909-6863915)


    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
    SMAD22  SMAD32  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, UniProtKB, 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

    10/819 NCBI SNPs in SMAD5 are shown (see all 819    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1138355081,2
    --130656021(+) TTAGGG/ATGTCA 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs748917341,2
    --130656439(+) GGGCAC/GTCCCA 3 -- us2k10--------
    rs745179041,2
    --130656613(+) AGATTT/CGTATT 3 -- us2k12Minor allele frequency- C:0.10CSA WA 120
    rs791708831,2
    --130657563(+) CGAAGC/TTGTCC 3 -- int12Minor allele frequency- T:0.09CSA WA 120
    rs1113267941,2
    C--130658512(+) GTGAAG/TTAGTT 3 -- int11Minor allele frequency- T:0.00WA 2
    rs757730801,2
    --130659567(+) ATTATG/CATTTG 3 -- int11Minor allele frequency- C:0.01WA 118
    rs43806521,2
    H--130659607(+) GAACGG/TAGGCA 3 -- int14Minor allele frequency- T:0.00NS EA 404
    rs1136990031,2
    --130660689(+) ACTAAG/ATGGGA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs779421701,2
    F--130660910(+) TTCAGT/CGACGC 3 -- int11Minor allele frequency- C:0.03NA 120
    rs2010500851,2
    C--130661685(+) GCTGGG/TGCTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for SMAD5 (135468534 - 135524435 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SMAD5
         2 CNVs: 59235 3577

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SMAD5 for disorders           About GeneDecksing

    OMIM gene information: 603110    OMIM disorders: --

    17 diseases for SMAD5:    About MalaCards
    fibrodysplasia ossificans progressiva    type 1 diabetes mellitus    multiple endocrine neoplasia    diabetes mellitus
    hemochromatosis    colorectal cancer    nephropathy    hematopoiesis
    hepatocellular carcinoma    ovarian cancer    lung cancer    hypertension
    leukemia    schizophrenia    carcinoma    prostatitis
    neuronitis

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

    4 Novoseek 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)

    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 137):
    (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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. 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)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. TGF-beta signaling by Smad proteins. (PubMed id 10708949)1, 2 Miyazono K. (2000)
    9. The Smad pathway. (PubMed id 10708948)1, 2 Wrana J.L. and Attisano L. (2000)
    10. Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells. (PubMed id 10647776)1, 2 Verschueren K. and Huylebroeck D. (1999)

    (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



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