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GDF5 Gene

protein-coding   GIFtS: 68
GCID: GC20M034021

Growth Differentiation Factor 5

  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
Growth Differentiation Factor 51 2     BMP142
CDMP12 3 5     LAP42
Cartilage-Derived Morphogenetic Protein-11 2     Growth/Differentiation Factor 52
CDMP-12 3     radotermin2
BDA1C2 5     GDF-53
OS52 5     Radotermin3
SYM1B2 5     Cartilage-Derived Morphogenetic Protein 13
SYNS22 5     

External Ids:    HGNC: 42201   Entrez Gene: 82002   Ensembl: ENSG000001259657   OMIM: 6011465   UniProtKB: P430263   

Export aliases for GDF5 gene to outside databases

Previous GC identifers: GC20M033779 GC20M034689 GC20M034736 GC20M033484 GC20M030799


(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 GDF5 Gene:
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta
superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved
to produce a mature protein containing seven conserved cysteine residues. The members of this family are
regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are
associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe
type. These associations confirm that the gene product plays a role in skeletal development. (provided by RefSeq,
Jul 2008)

GeneCards Summary for GDF5 Gene:
GDF5 (growth differentiation factor 5) is a protein-coding gene. Diseases associated with GDF5 include symphalangism, proximal, 1b, and fibular hypoplasia and complex brachydactyly. GO annotations related to this gene include growth factor activity and cytokine activity. An important paralog of this gene is BMP5.

UniProtKB/Swiss-Prot: GDF5_HUMAN, P43026
Function: Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the
high-affinity receptor BMPR1B

Gene Wiki entry for GDF5 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_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the GDF5 gene promoter:
         AhR   HOXA9   HOXA9B   MyoD   Meis-1a   Arnt   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GDF5 promoter sequence
   Search Chromatin IP Primers for GDF5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GDF5


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

Entrez Gene cytogenetic band: 20q11.2   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.2

GDF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDF5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M034021:  view genomic region     (about GC identifiers)

Start:
34,021,145 bp from pter      End:
34,042,568 bp from pter
Size:
21,424 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GDF5_HUMAN, P43026 (See protein sequence)
Recommended Name: Growth/differentiation factor 5 precursor  
Size: 501 amino acids; 55411 Da
Subunit: Homodimer; disulfide-linked (By similarity). Interacts with serine proteases, HTRA1 and HTRA3 (By
similarity)
4 PDB 3D structures from and Proteopedia for GDF5:
1WAQ (3D)        2BHK (3D)        3EVS (3D)        3QB4 (3D)    
Secondary accessions: E1P5Q2 Q96SB1

Explore the universe of human proteins at neXtProt for GDF5: NX_P43026

Explore proteomics data for GDF5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn189
  • Modification sites at PhosphoSitePlus

  • See GDF5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000548.1  
    ENSEMBL proteins: 
     ENSP00000363489   ENSP00000363492  
    Reactome Protein details: P43026

    GDF5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for GDF5
    Cloud-Clone Corp. CLIAs for GDF5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry P43026

    ProtoNet protein and cluster: P43026

    3 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature


    UniProtKB/Swiss-Prot: GDF5_HUMAN, P43026
    Similarity: Belongs to the TGF-beta family


    GDF5 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: GDF5_HUMAN, P43026
    Function: Could be involved in bone and cartilage formation. Chondrogenic signaling is mediated by the
    high-affinity receptor BMPR1B

         Genatlas biochemistry entry for GDF5:
    cartilage derived morphogenetic protein 1,expressed throughout the cartilage core during embryonic long bone
    development,closely related to bone morphogenetic protein 5 to 7 (TGFB superfamily)

         Summary: 
    GDF5 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
                fully expand
    Bone: HyStem+TGFbeta3+GDF5-induced MEL2 cells, HyStem+TGFbeta3+GDF5-induced E15 cells      fully expand to see all 8 cells
    Cartilage: Articular chondrocyte-like cells, HyStem+TGFbeta3+GDF5-induced MEL2 cells      fully expand to see all 8 cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding ----
    GO:0005125cytokine activity IEA--
    GO:0005515protein binding IPI19229295
    GO:0008083growth factor activity IEA--
         
    GDF5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GDF5:
     High actin ratio cells 

         5 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Gdf5):
     growth/size/body  limbs/digits/tail  mortality/aging  reproductive system  skeleton 

    GDF5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GDF5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GDF5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GDF5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GDF5

    miRNA
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    miRTarBase miRNAs that target GDF5:
    hsa-mir-335-5p (MIRT017506)

    Block miRNA regulation of human, mouse, rat GDF5 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate GDF5:
    hsa-miR-3140-3p hsa-miR-4328 hsa-miR-212 hsa-miR-1825 hsa-miR-132 hsa-miR-7 hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidGDF5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GDF5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: GDF5 (NM_000557)
    Sino Biological Human cDNA Clone for GDF5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GDF5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDF5

    Cell Line
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    ESI BIO PureStem Progenitor for GDF5: 
    PureStem E15, Meso-prx/latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF5


    (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
    GDF5_HUMAN, P43026: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus2
    plasma membrane2
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--

    GDF5 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 GDF5 About   (see all 18)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GDF5 (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    1 Sino Biological Pathway for GDF5
        TGF-beta Signaling Pathway

    1 Reactome Pathway for GDF5
        Molecules associated with elastic fibres


    3 Kegg Pathways  (Kegg details for GDF5):
        Cytokine-cytokine receptor interaction
    TGF-beta signaling pathway
    Hippo signaling pathway


    GDF5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDF5 (see all 6): 
              Growth Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat
              Common Cytokines in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GDF5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for GDF5 (P430261, 2, 3 ENSP000003634894) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMPR1BO002381, 2, 3, ENSP000002645684EBI-8571476,EBI-7527193 MINT-7264524 MINT-7264542 MINT-7264497 MINT-7264510 MINT-7264457 MINT-7264483 MINT-7264470 I2D: score=3 STRING: ENSP00000264568
    BMPR1AP368941, 2, 3EBI-8571476,EBI-1029237 MINT-7264663 MINT-7264650 MINT-7264675 I2D: score=3 
    BMPR2Q138731, 2, 3, ENSP000003637084EBI-8571476,EBI-527196 MINT-7264614 MINT-7264626 MINT-7264638 MINT-7264601 I2D: score=4 STRING: ENSP00000363708
    CHRDL2Q6WN343, ENSP000002636714I2D: score=3 STRING: ENSP00000263671
    HTRA1Q927433, ENSP000003579804I2D: score=3 STRING: ENSP00000357980
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002062chondrocyte differentiation IEA--
    GO:0007178transmembrane receptor protein serine/threonine kinase signaling pathway ----
    GO:0007179transforming growth factor beta receptor signaling pathway TAS7961761
    GO:0007267cell-cell signaling TAS8589725
    GO:0030198extracellular matrix organization TAS--

    GDF5 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 GDF5

    4 Novoseek inferred chemical compound relationships for GDF5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycosaminoglycan 42.8 2 15530414 (1), 12027540 (1)
    cysteine 6.91 2 18979166 (1), 16606344 (1)
    threonine 2.88 2 9525338 (1), 8702914 (1)
    tyrosine 0 1 11060707 (1)



    GDF5 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,
    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 GDF5 gene: 
    NM_000557.3  

    Unigene Cluster for GDF5:

    Growth differentiation factor 5
    Hs.1573  [show with all ESTs]
    Unigene Representative Sequence: BC032495
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374369(uc010gfc.1 uc002xck.1) ENST00000374372
    miRNA
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    hsa-miR-3140-3p hsa-miR-4328 hsa-miR-212 hsa-miR-1825 hsa-miR-132 hsa-miR-7 hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidGDF5 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat GDF5
      QuantiFast Probe-based Assays in human, mouse, rat GDF5

    Additional mRNA sequence: 

    AB593125.1 BC032495.1 BC111566.1 BC111859.1 U13660.1 

    3 DOTS entries:

    DT.406043  DT.95146541  DT.100016580 

    Selected AceView cDNA sequences (see all 36):

    BU626252 BM931289 NM_000557 AI143816 BM684858 BU625224 AI127492 BU541856 
    BG750046 BC032495 BX283226 BF688622 AI538937 BQ448157 BQ073584 BI913469 
    BM050865 U13660 CF132743 BF689009 CD513413 BG750811 BU168206 BG753359 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GDF5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCGTGGAGT
    GDF5 Expression
    About this image


    GDF5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Epiphyseal End
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             Meckel's Cartilage
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 4D20.8, NCr-fac Progenitor
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
    GDF5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDF5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1573

    UniProtKB/Swiss-Prot: GDF5_HUMAN, P43026
    Tissue specificity: Predominantly expressed in long bones during embryonic development

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDF5 (see all 6): 
              Growth Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat
              Common Cytokines in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for GDF5
    OriGene qSTAR qPCR primer pairs in human, mouse for GDF5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GDF5
    QuantiTect SYBR Green Assays in human, mouse, rat GDF5
    QuantiFast Probe-based Assays in human, mouse, rat GDF5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF5

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for GDF5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdf51 , 5 growth differentiation factor 51, 5 90.17(n)1
    91.52(a)1
      2 (77.26 cM)5
    145631  NM_008109.21  NP_032135.21 
     1559410235 
    chicken
    (Gallus gallus)
    Aves GDF51 growth differentiation factor 5 66.53(n)
    69.9(a)
      374249  NM_204338.1  NP_989669.1 
    lizard
    (Anolis carolinensis)
    Reptilia GDF56
    growth differentiation factor 5
    70(a)
    1 ↔ 1
    4(134110479-134114429)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gdf51 growth differentiation factor 5 60.7(n)
    63.41(a)
      100189547  NM_001135117.1  NP_001128589.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gdf51 growth differentiation factor 5 65.79(n)
    65.53(a)
      100334210  XM_002662541.2  XP_002662587.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dpp6
    decapentaplegic
    18(a)
    1 → many
    2L(2428372-2459823)


    ENSEMBL Gene Tree for GDF5 (if available)
    TreeFam Gene Tree for GDF5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GDF5 gene
    BMP52  GDF32  BMP8B2  GDF62  BMP42  GDF72  GDF22  BMP22  
    BMP102  BMP72  GDF12  BMP8A2  BMP62  
    13 SIMAP similar genes for GDF5 using alignment to 13 protein entries:     GDF5_HUMAN (see all proteins):
    BMP4    BMP3    NODAL    GDF6    BMP2    DKFZp686A06204
    TGFB3    BMP6    gdf7    GDF7    INHA    BMP8A
    BMPY

    GDF5 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 GDF5 (see all 158)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363971,2,,4
    CBrachydactyly C (BDC)4 pathogenic134028461(-) AGTACA/GTGCTC 2 M V mis1 ese30--------
    VAR_0467434
    Brachydactyly A2 (BDA2)4--see VAR_0467432 R Q mis40--------
    VAR_0549094
    Symphalangism, proximal 1B (SYM1B)4--see VAR_0549092 L R mis40--------
    VAR_0265454
    Symphalangism, proximal 1B (SYM1B)4--see VAR_0265452 R L mis40--------
    VAR_0379804
    Du Pan syndrome (DPS)4--see VAR_0379802 S T mis40--------
    VAR_0644164
    Brachydactyly A1, C (BDA1C)4--see VAR_0644162 R C mis40--------
    VAR_0379814
    Du Pan syndrome (DPS)4--see VAR_0379812 H L mis40--------
    VAR_0379824
    Multiple synostoses syndrome 2 (SYNS2)4--see VAR_0379822 S N mis40--------
    VAR_0549104
    Du Pan syndrome (DPS)4--see VAR_0549102 R Q mis40--------
    rs289366831,2,4
    Du Pan syndrome (DPS)4--see VAR_0174082 mis40--------

    HapMap Linkage Disequilibrium report for GDF5 (34021145 - 34042568 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GDF5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833963CNV Gain17160897

    Human Gene Mutation Database (HGMD): GDF5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GDF5
    DNA2.0 Custom Variant and Variant Library Synthesis for GDF5

    (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.)
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    OMIM gene information: 601146   
    OMIM disorders: 201250  113100  200700  228900  112600  615298  610017  612400  615072  
    UniProtKB/Swiss-Prot: GDF5_HUMAN, P43026
  • Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700]: An autosomal recessive acromesomelic
    chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short
    stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal
    to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like
    fingers). AMDG is characterized by normal axial skeletons and missing or fused skeletal elements within the hands
    and feet. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Acromesomelic chondrodysplasia, Hunter-Thompson type (AMDH) [MIM:201250]: An autosomal recessive form of
    dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower
    limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal
    elements within the hands and feet. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Brachydactyly C (BDC) [MIM:113100]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the
    second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be
    essentially normal and project beyond the others. Note=The disease is caused by mutations affecting the gene
    represented in this entry. Some BDC patients with GDF5 mutations also manifest clinical features of ASPED
    angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a
    typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia,
    and delayed bone age. This suggests that BDC and ASPED are part of the same clinical spectrum (PubMed:22828468)
  • Du Pan syndrome (DPS) [MIM:228900]: Rare autosomal recessive condition characterized by absence of the
    fibulae and severe acromesomelic limb shortening with small, non-functional toes. Although milder, the phenotype
    resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Symphalangism, proximal 1B (SYM1B) [MIM:615298]: A disease characterized by the hereditary absence of the
    proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and
    metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the
    lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the
    stapes to the petrous part of the temporal bone. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]: A bone disease characterized by multiple progressive
    joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine
    joints. Additional features can include progressive conductive deafness and facial dysmorphism. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the
    second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected
    middle phalanx, the end of the second finger usually deviates radially. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Osteoarthritis 5 (OS5) [MIM:612400]: A degenerative disease of the joints characterized by degradation of
    the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include
    pain and joint stiffness often leading to significant disability and joint replacement. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Brachydactyly A1, C (BDA1C) [MIM:615072]: A form of brachydactyly type A1. Brachydactyly defines a group
    of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges
    and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary
    or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GDF5 (see all 46):    
    About MalaCards
    symphalangism, proximal, 1b    fibular hypoplasia and complex brachydactyly    brachydactyly type c    acromesomelic dysplasia, grebe type
    acromesomelic dysplasia, hunter-thompson type    multiple synostoses syndrome 2    fibular hypoplasia    brachydactyly, type a1, c
    angel shaped phalangoepiphyseal dysplasia    brachydactyly    osteoarthritis-5    brachydactyly type a2
    acromesomelic dysplasia    multiple synostoses syndrome    proximal symphalangism    periostitis
    brachydactyly type a1    spondylolisthesis    multiple synostosis syndrome 1    root resorption

    7 diseases from the University of Copenhagen DISEASES database for GDF5:
    Brachydactyly     Osteoarthritis     Syndactyly     Acromesomelic dysplasia
    Ankylosis     Parkinson's disease     Root resorption

    GDF5 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GDF5 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brachydactyly, type a2 94.1 6 16127465 (1), 16014698 (1), 19327734 (1), 18203755 (1)
    brachydactyly, type c 93.8 5 18283415 (2), 12357473 (1), 12567410 (1), 14735582 (1)
    grebe chondrodysplasia 88.7 1 12687891 (1)
    brachydactyly 63 3 17602228 (1), 16532400 (1)
    osteoarthritis 60.6 33 17384641 (3), 19029166 (3), 19565498 (2), 19054821 (2) (see all 18)
    limb malformation 59.7 1 18283415 (2), 19327734 (1)
    arthritis 36.1 1 18163510 (1)
    arthrodesis 28.2 1 17656374 (1)
    hypertrophy 18.9 7 18163510 (2), 14517992 (2)
    dysplasia 17 2 18947434 (2)

    Genetic Association Database (GAD): GDF5
    Human Genome Epidemiology (HuGE) Navigator: GDF5 (21 documents)

    Export disorders for GDF5 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 GDF5 gene, integrated from 10 sources (see all 195):
    (articles sorted by number of sources associating them with GDF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. (PubMed id 17384641)1, 2, 4, 9 Miyamoto Y.... Ikegawa S. (Nat. Genet. 2007)
    2. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. (PubMed id 9288098)1, 2, 3 Thomas J.T.... Luyten F.P. (Nat. Genet. 1997)
    3. Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study. (PubMed id 19029166)1, 4, 9 Vaes R.B....van Meurs J.B. (Ann. Rheum. Dis. 2009)
    4. Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. (PubMed id 18283415)1, 2, 9 Yang W.... Zhang X. (J. Hum. Genet. 2008)
    5. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. (PubMed id 17616513)1, 4, 9 Southam L....Loughlin J. (Hum. Mol. Genet. 2007)
    6. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. (PubMed id 19054821)1, 4, 9 Valdes A.M....Doherty M. (Ann. Rheum. Dis. 2009)
    7. GDF5 is a second locus for multiple-synostosis syndrome. (PubMed id 16532400)1, 2, 9 Dawson K.... Krakow D. (Am. J. Hum. Genet. 2006)
    8. Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity. (PubMed id 19229295)1, 2, 9 Kotzsch A.... Muller T.D. (EMBO J. 2009)
    9. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. (PubMed id 17676627)1, 4, 9 Tsezou A....Malizos K.N. (J. Orthop. Res. 2008)
    10. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (PubMed id 14735582)1, 2, 9 Schwabe G.C.... Mundlos S. (Am. J. Med. Genet. A 2004)

    (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: 8200 HGNC: 4220 AceView: GDF5 Ensembl:ENSG00000125965 euGenes: HUgn8200
    ECgene: GDF5 Kegg: 8200 H-InvDB: GDF5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GDF5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GDF5 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GDF5[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/GDF5

    (Patent information from GeneIP,
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    Patent Information for GDF5 gene:
    Search GeneIP for patents involving GDF5

    GeneCards and IP:
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