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

GDF5 Gene

protein-coding   GIFtS: 67
GCID: GC20M034021

Growth Differentiation Factor 5

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 brachydactyly, and brachydactyly type c, and among its related super-pathways are Rac1 Pathway and Ras Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GDF5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43026

  • GDF5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GDF5 Protein Expression
    REFSEQ proteins: NP_000548.1  
    ENSEMBL proteins: 
     ENSP00000363489   ENSP00000363492  
    Reactome Protein details: P43026
    Human Recombinant Protein Products for GDF5: 
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    Cloud-Clone Corp. Proteins for GDF5 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    GDF5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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: Articular chondrocyte-like cells from Cartilage, Engineered articular cartilage from (see all).

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 8 alleles(MGI details for Gdf5):
     growth/size  limbs/digits/tail  mortality/aging  reproductive system  skeleton 

    GDF5 for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidGDF5 3' UTR sequence
    Inhib. RNA
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    (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 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
    3Rho Family GTPases
    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

    5/54 Downloadable PowerPoint Slides of QIAGEN 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

    3        Reactome Pathways for GDF5
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation


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


    GDF5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GDF5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for GDF5 (P430262, 3 ENSP000003634894) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMPR1AP368942, 3MINT-7264663 MINT-7264650 MINT-7264675 I2D: score=3 
    BMPR1BO002382, 3, ENSP000002645684MINT-7264524 MINT-7264542 MINT-7264497 MINT-7264510 MINT-7264457 MINT-7264483 MINT-7264470 I2D: score=3 STRING: ENSP00000264568
    BMPR2Q138732, 3, ENSP000003637084MINT-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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007179transforming growth factor beta receptor signaling pathway TAS7961761
    GO:0007267cell-cell signaling TAS8589725
    GO:0030198extracellular matrix organization TAS--
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0032332positive regulation of chondrocyte differentiation IEA--

    GDF5 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

    GDF5 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about GDF5

    (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 GDF5 gene: 
    NM_000557.2  

    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

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    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.406043  DT.95146541  DT.100016580 

    24/36 AceView cDNA sequences (see all 36):

    NM_000557 AI143816 BU626252 BU625224 BM684858 BM931289 AI127492 BU541856 
    BF688622 BG750811 BG753359 CF132743 AI538937 BQ448157 BI913469 BI084690 
    BQ073584 BG750046 U13660 BG753200 BX283226 BU168206 BQ641867 CD513413 

    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™, 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

    GDF5 expression in normal human tissues (normalized intensities)      GDF5 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 18 entries
             Articular Cartilage Cells Zeugopod Articular Cartilage
             Meckel's Cartilage
             Human Annulus Fibrosus Cells (HAFC)   
     
     Limb (Muscoskeletal System)    fully expand to see all 12 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             Autopod
             limb/hindlimb/hind-paw   
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Epiphyseal End
             Human fetal bone marrow-derived mesenchymal stromal cells
             Human Vertebral Mesenchymal Stem Cells (HVMSC)   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Choroid Plexus Progenitor Cells Choroid Plexus
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
     
     Fibroblast
             Human Lymphatic Fibroblasts (HLF)   

    See GDF5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GDF5

    SOURCE GeneReport for Unigene cluster: Hs.1573

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

        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for GDF5 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdf51 , 5 growth differentiation factor 51, 5 90.98(n)1
    92.53(a)1
      2 (77.26 cM)5
    145631  NM_008109.21  NP_032135.21 
     1559410235 
    chicken
    (Gallus gallus)
    Aves GDF51 growth differentiation factor 5 67.27(n)
    70.56(a)
      374249  NM_204338.1  NP_989669.1 
    lizard
    (Anolis carolinensis)
    Reptilia GDF56
    Uncharacterized protein
    70(a)
    1 ↔ 1
    4(134110479-134114429)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003342101 growth/differentiation factor 5-like 65.7(n)
    65.26(a)
      100334210  XM_002662541.1  XP_002662587.1 


    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)
    About This Section
    Paralogs for GDF5 gene
    BMP52  GDF32  BMP8B2  GDF62  BMP42  GDF72  GDF22  BMP22  
    BMP102  BMP32  BMP72  GDF102  GDF12  BMP8A2  BMP62  
    12 SIMAP similar genes for GDF5 using alignment to 13 protein entries:     GDF5_HUMAN (see all proteins):
    BMP3    NODAL    GDF6    DKFZp686A06204    TGFB3    BMP6
    gdf7    GDF7    INHA    BMP2    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) 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

    10/158 SNPs in GDF5 are shown (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
    ----------
    VAR_0467434
    Brachydactyly A2 (BDA2)4--see VAR_0467432 R Q mis40--------
    VAR_0549094
    Symphalangism proximal syndrome (SYM1)4--see VAR_0549092 L R mis40--------
    VAR_0265454
    Symphalangism proximal syndrome (SYM1)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--------
    VAR_0174084
    Du Pan syndrome (DPS)4--see VAR_0174082 L P mis40--------
    VAR_0549114
    Du Pan syndrome (DPS)4--see VAR_0549112 P T 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601146   
    OMIM disorders: 201250  113100  200700  228900  112600  185800  610017  612400  
    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 syndrome (SYM1) [MIM:185800]: Characterized by the hereditary absence of the
    proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes
    towards the radial side. 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. Conducive 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

  • 20/39 diseases for GDF5 (see all 39):    About MalaCards
    brachydactyly    brachydactyly type c    brachydactyly type a2    fibular hypoplasia and complex brachydactyly
    fibular hypoplasia    periostitis    acromesomelic dysplasia, grebe type    acromesomelic dysplasia, hunter-thompson type
    multiple synostoses syndrome 2    angel shaped phalangoepiphyseal dysplasia    acromesomelic dysplasia    cushing's symphalangism
    brachydactyly type a1    root resorption    ankylosis    lumbar disc degeneration
    chondrodysplasia    spondylolisthesis    synostosis    clubfoot

    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


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 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)
    About This Section

    PubMed articles for GDF5 gene, integrated from 9 sources (see all 190):
    (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. (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. (1997)
    3. 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. (2008)
    4. 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. (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. (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. (2008)
    7. GDF5 is a second locus for multiple-synostosis syndrome. (PubMed id 16532400)1, 2, 9 Dawson K.... Krakow D. (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....MA1ller T.D. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8200 HGNC: 4220 AceView: GDF5 Ensembl:ENSG00000125965 euGenes: HUgn8200
    ECgene: GDF5 Kegg: 8200 H-InvDB: GDF5

    (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 GDF5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GDF5 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDF5
    Wikipedia http://en.wikipedia.org/wiki/GDF5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GDF5 gene:
    Search GeneIP for patents involving GDF5

    GeneCards and IP:
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