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

GDF5 Gene

protein-coding   GIFtS: 65
GCID: GC20M034021

growth differentiation factor 5
 Explore 39 diseases affiliated with
GDF5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GDF5    

Aliases
for GDF5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Growth Differentiation Factor 51 2     LAP42
CDMP11 2 3 5     Cartilage-Derived Morphogenetic Protein-12
BMP141 2     Growth/Differentiation Factor 52
CDMP-12 3     Radotermin3
GDF-52 3     Radotermin3
OS52 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


Summaries
for GDF5 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  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

Proteins
for GDF5 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43026

    • GDF5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000548.1  
    ENSEMBL proteins: 
     ENSP00000363489   ENSP00000363492  
    Reactome Protein details: P43026
    Human Recombinant Protein Products: 
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    Novus Biologicals GDF5 Proteins
    Novus Biologicals GDF5 Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for GDF5
    Uscn Proteins for GDF5

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--


    GDF5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for GDF5

    Protein Domains /
    Families
    for GDF5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GDF5 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for GDF5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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: Engineered articular cartilage, Chondrocyte-like cells (see all 10).

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GDF5
    7 QIAGEN miScript miRNA 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 plasmid: GDF5 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: GDF5
    OriGene siRNA: GDF5
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell line associated with GDF5: PureStem E15, Meso-prx/latp Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF5

    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 ----
    GO:0008083growth factor activity IEA--


    GDF5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GDF5:
     High actin ratio cells 

    Animal Models:
         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


    Pathways & Interactions
    for GDF5 gene

    (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 - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic Pathways in Synovial Fibroblasts
    8/14 pathways (see all 14)
    		Apoptotic Pathways in Synovial Fibroblasts1.00
    		ERK5 Signaling0.61
    		p53 Mediated Apoptosis0.84
    		eIF2 Pathway0.60
    		Mitochondrial Apoptosis0.73
    		Rac1 Pathway0.58
    		Telomerase Components in Cell Signaling0.72
    		Nuclear Receptor Activation by Vitamin-A0.57
    2GPCR Pathway
    		GPCR Pathway1.00
    		Estrogen Pathway0.55
    		Ras Pathway0.62
    		Pancreatic Adenocarcinoma0.55
    		Breast Cancer Regulation by Stathmin10.58
    		Paxillin Interactions0.53
    		NFAT in Immune Response0.58
    3Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    4TGF-Beta Pathway
    		TGF-Beta Pathway1.00
    		JAK-STAT Pathway0.57
    		MAPK Family Pathway0.60
    		JNK Pathway0.50
    5Nanog in Mammalian ESC Pluripotency
    		Nanog in Mammalian ESC Pluripotency1.00
    		14-3-3 Induced Intracellular Signaling0.59
    		GSK3 Signaling0.61
    		eNOS Signaling0.48

    Pathway sources
    See GeneCards unified pathways
    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

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


    2         Kegg Pathways  (Kegg details for GDF5):
        Cytokine-cytokine receptor interaction
    TGF-beta 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)

    5/11 Interacting proteins for GDF5 (P430262, 3 ENSP000003634894) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMPR1AP368942, 3, ENSP000002247644MINT-7264663 MINT-7264650 MINT-7264675 I2D: score=3 STRING: ENSP00000224764
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007179transforming growth factor beta receptor signaling pathway TAS7961761
    GO:0007267cell-cell signaling TAS8589725
    GO:0030326embryonic limb morphogenesis IEA--
    GO:0032332positive regulation of chondrocyte differentiation IEA--
    GO:0035136forelimb morphogenesis IEA--


    GDF5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GDF5 gene

    (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

    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 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 

    Transcripts
    for GDF5 gene

    (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, 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 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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    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 plasmid: GDF5 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 BM684858 BM931289 AI127492 BU625224 AI143816 BU626252 BQ448157 
    BU541856 CF132743 BF689009 BI913469 BM050865 BG753200 BG750046 BG750811 
    CD513413 BF688622 BC032495 BU168206 BQ641867 BQ073584 AI538937 BG753359 

    GeneLoc Exon Structure


    Expression
    for GDF5 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCGTGGAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GDF5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/18 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 18) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageAutopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageStylopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageZeugopod Articular CartilageArticular Cartilage CellsCartilage
    LimbAutopod Synovial JointCentral Intermediate Lamina CellsCartilage
    LimbAutopod Synovial JointInterzone CellsCartilage
    LimbStylopod Synovial JointCentral Intermediate Lamina CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)

    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
    Assay Products:     
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    Orthologs
    for GDF5 gene

    (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 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 70(a)
    		 1 ↔ 1
    		 4(134111939-134114429)
    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
    for GDF5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GDF5 gene
    GDF32  BMP52  GDF62  BMP8B2  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



    Genomic Variants
    for GDF5 gene

    (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

    10/174 NCBI SNPs in GDF5 are shown (see all 174)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289363971,2
    		Cpathogenic32557304(-) AGTACA/GTGCTC 2 M V mis1 ese32Minor allele frequency- G:0.00NA 4
    rs743153871,2
    		Cpathogenic32560489(-) TCGCTA/GCAGTC 3 Y C nc-transcript-variantmis10--------
    rs289366831,2
    		Cpathogenic32560612(-) CCACCT/CGGAGC 3 /P /L mis1 ese32Minor allele frequency- C:0.00NA 4
    rs743153891,2
    		Cpathogenic32560761(-) AGTATA/GAGGAC 3 K E nc-transcript-variantmis10--------
    rs1882526411,2
    		C,--30798662(+) CATTTA/GAATCT 2 -- int1 ut310--------
    rs790512061,2
    		C,F,--30798714(+) CTCTCC/TTCTTC 2 -- ut31 int11Minor allele frequency- T:0.03WA 118
    rs61209421,2
    		C--30798832(+) GCTTAG/AGAGAG 2 -- int1 ut31 ese32Minor allele frequency- A:0.00NA 4
    rs1148329481,2
    		C,F,--30798989(+) CTCAGC/ACAGGG 2 -- int1 ut311Minor allele frequency- A:0.09WA 118
    rs1130491621,2
    		F--30799106(+) TTCCTG/CACCCC 2 -- ut31 int12Minor allele frequency- C:0.50CSA 4
    rs60604171,2
    		C,H--30800247(+) TAGCCG/AACCAA 2 -- int1 nc-transcript-variant6Minor allele frequency- A:0.00NS EA NA 406

    HapMap Linkage Disequilibrium report for GDF5 (34021145 - 34042568 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GDF5: --
    Human Gene Mutation Database (HGMD): GDF5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GDF5
    DNA2.0 Custom Variant and Variant Library Synthesis for GDF5

    Disorders / Diseases
    for GDF5 gene

    (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
    GDF5 for disorders           About GeneDecksing

    OMIM gene information: 601146   
    OMIM disorders: 201250  113100  200700  228900  112600  185800  610017  612400  
    UniProtKB/Swiss-Prot: GDF5_HUMAN, P43026
  • Defects in GDF5 are the cause of acromesomelic chondrodysplasia Grebe type (AMDG) [MIM:200700]. 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 an autosomal recessive
    form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet
  • Defects in GDF5 are the cause of acromesomelic chondrodysplasia Hunter-Thompson type (AMDH) [MIM:201250]. AMDH
    • is 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
  • Defects in GDF5 are the cause of brachydactyly type C (BDC) [MIM:113100]. BDC is an autosomal dominant
    • disorder characterized by an abnormal shortness of the fingers and toes. Note=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)
  • Defects in GDF5 are the cause of Du Pan syndrome (DPS) [MIM:228900]; also known as fibular hypoplasia and
    • complex brachydactyly. Du Pan syndrome is a 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
  • Defects in GDF5 are a cause of symphalangism proximal syndrome (SYM1) [MIM:185800]. SYM1 is 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
  • Defects in GDF5 are the cause of multiple synostoses syndrome type 2 (SYNS2) [MIM:610017]. Multiple synostoses
    • syndrome is an autosomal dominant condition characterized by progressive joint fusions of the fingers, wrists, ankles
    and cervical spine, characteristic facies and progressive conductive deafness
  • Defects in GDF5 are a cause of brachydactyly type A2 (BDA2) [MIM:112600]. Brachydactylies (BDs) are a group of
    • inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or
    the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including three
    subgroups (A1 to A3) that usually manifest as autosomal dominant traits
  • Genetic variations in GDF5 are associated with susceptibility to osteoarthritis type 5 (OS5) [MIM:612400].
    • Osteoarthritis is 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
  • Defects in GDF5 may be a cause of brachydactyly type A1 (BDA1) [MIM:112500]. Brachydactylies (BDs) are a group
    • of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges
    and/or the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including
    three subgroups (A1 to A3) that usually manifest as autosomal dominant traits

    20/39 diseases for GDF5 (see all 39):    About MalaCards
    acromesomelic dysplasia, hunter-thompson type    acromesomelic dysplasia    brachydactyly type c    brachydactyly
    brachydactyly type a2    chondrodysplasia    fibular hypoplasia and complex brachydactyly    fibular hypoplasia
    brachydactyly type a1    vertical talus    synostoses syndrome    cushing's symphalangism
    multiple synostoses syndrome 2    root resorption    short stature    pleomorphic adenoma
    ankylosis    synostosis    periostitis    clubfoot

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

    10/12 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: GDF5 (21 documents)

    Export disorders for GDF5 gene to outside databases

    Publications
    for GDF5 gene

    (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 181):
    (articles sorted by number of sources associating them with GDF5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. (PubMed id 17384641)1, 2, 9 Miyamoto Y.... Ikegawa S. (2007)
    4. GDF5 is a second locus for multiple-synostosis syndrome. (PubMed id 16532400)1, 2, 9 Dawson K.... Krakow D. (2006)
    5. 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)
    6. 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)
    7. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. (PubMed id 18629880)1, 2, 9 Douzgou S....Dallapiccola B. (2008)
    8. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (PubMed id 16127465)1, 2, 9 Seemann P.... Mundlos S. (2005)
    9. Brachydactyly type A2 associated with a defect in proGDF5 processing. (PubMed id 18203755)1, 2, 9 Ploger F....Mundlos S. (2008)
    10. Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development. (PubMed id 7961761)1, 2, 9 Chang S.... Moos M. (1994)

    External Searches for GDF5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing GDF5 gene

    (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

    Other Databases showing GDF5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GDF5 gene

    (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

    Intellectual Property
    for GDF5 gene

    (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

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