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

GDF6 Gene

protein-coding   GIFtS: 55
GCID: GC08M097223

Growth Differentiation Factor 6

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Growth Differentiation Factor 61 2     KFSL2
Growth/Differentiation Factor 162 3     LCA172
GDF-62 3     SCDO42
KFS12 5     SGM12
MCOP42 5     Growth/Differentiation Factor 62
MCOPCB62 5     Klip-Feil Malformation2
BMP132     Klippel-Feil Malformation2
CDMP22     Klippel-Feil Syndrome2
KFM2     GDF163
KFS2     

External Ids:    HGNC: 42211   Entrez Gene: 3922552   Ensembl: ENSG000001564667   OMIM: 6011475   UniProtKB: Q6KF103   

Export aliases for GDF6 gene to outside databases

Previous GC identifers: GC00U990463 GC08M092360


(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 GDF6 Gene:
This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted
signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial
skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development,
and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. (provided by RefSeq,
Jul 2008)

GeneCards Summary for GDF6 Gene: 
GDF6 (growth differentiation factor 6) is a protein-coding gene. Diseases associated with GDF6 include klippel-feil syndrome, and tethered spinal cord syndrome, and among its related super-pathways are Rac1 Pathway and Ras Pathway. GO annotations related to this gene include cytokine activity and protein homodimerization activity. An important paralog of this gene is GDF5.

UniProtKB/Swiss-Prot: GDF6_HUMAN, Q6KF10
Function: Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key
role in establishing boundaries between skeletal elements during development (By similarity)

Gene Wiki entry for GDF6 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_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GDF6 gene promoter:
         Nkx3-1   USF1   NF-1/L   ISGF-3   GATA-1   GATA-6   HSF2   COMP1   USF-1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGDF6 promoter sequence
   Search SABiosciences Chromatin IP Primers for GDF6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GDF6


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

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

GDF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDF6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M097223:  view genomic region     (about GC identifiers)

Start:
97,154,558 bp from pter      End:
97,173,020 bp from pter
Size:
18,463 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: GDF6_HUMAN, Q6KF10 (See protein sequence)
Recommended Name: Growth/differentiation factor 6 precursor  
Size: 455 amino acids; 50662 Da
Subunit: Homodimer; disulfide-linked (By similarity)
Subcellular location: Secreted (Probable)
Secondary accessions: Q6PI58

Explore the universe of human proteins at neXtProt for GDF6: NX_Q6KF10

Explore proteomics data for GDF6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6KF10

  • GDF6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GDF6 Protein Expression
    REFSEQ proteins: NP_001001557.1  
    ENSEMBL proteins: 
     ENSP00000287020  

    Human Recombinant Protein Products for GDF6: 
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    Novus Biologicals GDF6 Proteins
    Novus Biologicals GDF6 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GDF6 

    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--

    GDF6 for ontologies           About GeneDecksing



    GDF6 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for GDF6


    (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 Q6KF10

    ProtoNet protein and cluster: Q6KF10

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


    UniProtKB/Swiss-Prot: GDF6_HUMAN, Q6KF10
    Similarity: Belongs to the TGF-beta family


    GDF6 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: GDF6_HUMAN, Q6KF10
    Function: Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key
    role in establishing boundaries between skeletal elements during development (By similarity)

         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:0008083growth factor activity IEA--
    GO:0042803protein homodimerization activity IEA--
         
    GDF6 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gdf6):
     craniofacial  growth/size  hearing/vestibular/ear  limbs/digits/tail  mortality/aging 
     nervous system  skeleton  vision/eye 

    GDF6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GDF6: Gdf6tm1Kng Gdf6tm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GDF6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GDF6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GDF6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GDF6 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidGDF6 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF6


    (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 GDF6 About   (see all 15)                                                                                              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 GDF6 (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 GDF6 
        TGF-beta Signaling Pathway


    2         Kegg Pathways  (Kegg details for GDF6):
        TGF-beta signaling pathway
    Hippo signaling pathway


    GDF6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GDF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for GDF6 (Q6KF103 ENSP000002870204) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD1Q157973, ENSP000003057694I2D: score=1 STRING: ENSP00000305769
    BMPR1BO002383, ENSP000002645684I2D: score=2 STRING: ENSP00000264568
    BMPR2Q138733, ENSP000003637084I2D: score=2 STRING: ENSP00000363708
    BMPR1AP368943I2D: score=2 
    SMAD5Q997173I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylation IDA16049014
    GO:0030509BMP signaling pathway IDA16049014
    GO:0032924activin receptor signaling pathway IDA16049014
    GO:0040007growth IEA--
    GO:0045666positive regulation of neuron differentiation IEA--

    GDF6 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GDF6

    Search CenterWatch for drugs/clinical trials and news about GDF6

    (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 GDF6 gene: 
    NM_001001557.2  

    Unigene Cluster for GDF6:

    Growth differentiation factor 6
    Hs.492277  [show with all ESTs]
    Unigene Representative Sequence: AJ537424
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000287020(uc003yhp.3)
    miRNA
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    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-200a hsa-miR-128 hsa-miR-578 hsa-miR-4325 hsa-miR-29a*
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GDF6

    Additional mRNA sequence: 

    AJ537424.1 BC043222.2 BC127947.1 BC127948.1 

    2 DOTS entries:

    DT.102822567  DT.120636581 

    1 AceView cDNA sequence:

    BV188723 

    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

    GDF6 expression in normal human tissues (normalized intensities)      GDF6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATTCATCC
    GDF6 Expression
    About this image


    GDF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Articular Cartilage Cells Zeugopod Articular Cartilage
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Interzone Cells Autopod Synovial Joint
             Autopod
             limb/hindlimb/hind-paw   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See GDF6 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.492277
        SABiosciences Expression via Pathway-Focused PCR Arrays including GDF6: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF6

    (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 GDF6 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdf61 , 5 growth differentiation factor 61, 5 86.4(n)1
    88.47(a)1
      4 (4.35 cM)5
    2423161  NM_013526.11  NP_038554.11 
     98443725 
    lizard
    (Anolis carolinensis)
    Reptilia GDF66
    --
    --
    59(a)
    45(a)
    1 ↔ 1
    possible ortholog
    4(19826432-19850791)
    1(155514040-155526322)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.5772 Xenopus laevis growth and differentiation factor 6 more 80.75(n)    AF155125.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gdf6b2 growth differentiation factor 6b 74.11(n)   30180  NM_130987.1 


    ENSEMBL Gene Tree for GDF6 (if available)
    TreeFam Gene Tree for GDF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GDF6 gene
    GDF52  BMP52  GDF32  BMP8B2  BMP42  GDF72  GDF22  BMP22  
    BMP102  BMP32  BMP72  GDF102  GDF12  BMP8A2  BMP62  
    4 SIMAP similar genes for GDF6 using alignment to 5 protein entries:     GDF6_HUMAN (see all proteins):
    GDF5    GDF7    gdf7    BMPY

    GDF6 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

    10/382 SNPs in GDF6 are shown (see all 382)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630264
    Microphthalmia, isolated, 4 (MCOP4)4--see VAR_0630262 D G mis40--------
    VAR_0630284
    Microphthalmia, isolated, 4 (MCOP4)4--see VAR_0630282 P H mis40--------
    VAR_0630274
    Microphthalmia, isolated, 4 (MCOP4)4--see VAR_0630272 Q L mis40--------
    VAR_0469034
    Microphthalmia, isolated, 4 (MCOP4)4--see VAR_0469032 A E mis40--------
    VAR_0469044
    Klippel-Feil syndrome 1 (KFS1)4--see VAR_0469042 L P mis40--------
    rs1219093531,2,4
    CKlippel-Feil syndrome 1 (KFS1)4 pathogenic192362450(-) CACCAA/GATTGA 2 K R mis10--------
    rs1405790141,2,4
    CMicrophthalmia, isolated, 4 (MCOP4)4 --92378127(+) AAGACT/CGGAAA 2 /Q /R mis11Minor allele frequency- C:0.00NA 4552
    rs1219093541,2,4
    C,FKlippel-Feil syndrome 1 (KFS1)4 pathogenic192378358(-) CAAGGG/TCATGC 2 G V mis11Minor allele frequency- T:0.00NA 3992
    rs637512201,2
    Cpathogenic192362855(-) GAACCC/TGTTCG 2 P L mis10--------
    rs1219093521,2
    Cpathogenic192362975(-) GCGCGA/CGCGGG 2 E A mis10--------

    HapMap Linkage Disequilibrium report for GDF6 (97154558 - 97173020 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GDF6: --

    Human Gene Mutation Database (HGMD): GDF6
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601147   
    OMIM disorders: 118100  613094  613703  
    UniProtKB/Swiss-Prot: GDF6_HUMAN, Q6KF10
  • Klippel-Feil syndrome 1 (KFS1) [MIM:118100]: A skeletal disorder characterized by congenital fusion of
    cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of
    fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.
    Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome
    (KFS). Paracentric inv(8)(q22;2q23.3)
  • Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]: A disorder of eye formation, ranging from small size of
    a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea
    and lens, scaring of the retina and choroid, and other abnormalities may also be present. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20 diseases for GDF6:    About MalaCards
    klippel-feil syndrome    tethered spinal cord syndrome    microphthalmia with coloboma 6, digenic    microphthalmia, isolated 4
    klippel-feil syndrome 1, autosomal dominant    microphthalmia with coloboma 6    meningocele    coloboma
    sertoli cell-only syndrome    microphthalmia    klinefelter's syndrome    choroiditis
    azoospermia    cleft lip    cataract    cervicitis
    adenocarcinoma    pancreatitis    breast cancer    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for GDF6:
    Klippel-Feil syndrome     Microphthalmia     Coloboma     Klinefelter's syndrome

    GDF6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GDF6
    Human Genome Epidemiology (HuGE) Navigator: GDF6 (5 documents)

    Export disorders for GDF6 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 GDF6 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with GDF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. (PubMed id 19129173)1, 2, 9 Asai-Coakwell M....Lehmann O.J. (2009)
    2. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. (PubMed id 18716610)1, 4, 9 Chiquet B.T....Hecht J.T. (2008)
    3. Mutational screening of CHX10, GDF6, OTX2, RAX and SO X2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum ca ses. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (2010)
    4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (2010)
    5. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4 Zhang X....Zhang Q. (2009)
    6. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (PubMed id 18425797)1, 2 Tassabehji M....Clarke R.A. (2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily. (PubMed id 10022976)1, 3 Davidson A.J....Crosier P.S. (1999)
    9. Contribution of growth differentiation factor 6-depend ent cell survival to early-onset retinal dystrophies. (PubMed id 23307924)1 Asai-Coakwell M....Lehmann O.J. (2013)
    10. High temperature requirement factor A1 (HTRA1) gene re gulates angiogenesis through transforming growth factor-b family member growth d ifferentiation factor 6. (PubMed id 22049084)1 Zhang L....Zhang K. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 392255 HGNC: 4221 AceView: GDF6.1 Ensembl:ENSG00000156466 euGenes: HUgn392255
    ECgene: GDF6 Kegg: 392255 H-InvDB: GDF6

    (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 GDF6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GDF6 gene:
    Search GeneIP for patents involving GDF6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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