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

GDF6 Gene

protein-coding   GIFtS: 54
GCID: GC08M097223

growth differentiation factor 6
 Explore 19 diseases affiliated with
GDF6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GDF6    

Aliases
for GDF6 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 61 2     KFS2
BMP131 2     KFSL2
Growth/Differentiation Factor 162 3     SCDO42
GDF-62 3     SGM12
KFS12 5     Growth/Differentiation Factor 62
MCOP42 5     Klip-Feil Malformation2
MCOPCB62 5     Klippel-Feil Malformation2
CDMP22     Klippel-Feil Syndrome2
KFM2     GDF163

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


Summaries
for GDF6 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 GDF6:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: GDF6 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

Proteins
for GDF6 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6KF10

    • GDF6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001001557.1  
    ENSEMBL proteins: 
     ENSP00000287020  

    Human Recombinant Protein Products: 
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    Novus Biologicals GDF6 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for GDF6

    Protein Domains /
    Families
    for GDF6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GDF6 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 Q6KF10

    ProtoNet protein and cluster: Q6KF10

    2 Blocks protein families:
    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


    Function
    for GDF6 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: 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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GDF6
    8/73 QIAGEN miScript miRNA Assays for microRNAs that regulate GDF6 (see all 73):
    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*
    SwitchGear 3'UTR luciferase reporter plasmid: GDF6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GDF6 (see all 7)
    OriGene shRNA RFP: GDF6
    OriGene siRNA: GDF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GDF6

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GDF6

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDF6 

    Cell Line
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    Search LifeMap BioReagents cell lines for GDF6

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF6

    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


    Animal Models:
         Mouse knock-outs for GDF6: Gdf6tm1Kng Gdf6tm1Lex
         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


    Pathways & Interactions
    for GDF6 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 - 5/13 super-pathways (see all 13) 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 GDF6 (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer


    1         Kegg Pathway  (Kegg details for GDF6):
        TGF-beta 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)

    5/9 Interacting proteins for GDF6 (Q6KF103 ENSP000002870204) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMPR1AP368943, ENSP000002247644I2D: score=2 STRING: ENSP00000224764
    SMAD1Q157973, ENSP000003057694I2D: score=1 STRING: ENSP00000305769
    BMPR1BO002383, ENSP000002645684I2D: score=2 STRING: ENSP00000264568
    BMPR2Q138733, ENSP000003637084I2D: score=2 STRING: ENSP00000363708
    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



    Drugs & Compounds
    for GDF6 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
    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 

    Transcripts
    for GDF6 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 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GDF6
    8/73 QIAGEN miScript miRNA Assays for microRNAs that regulate GDF6 (see all 73):
    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*
    SwitchGear 3'UTR luciferase reporter plasmid: GDF6 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GDF6 (see all 7)
    OriGene shRNA RFP: GDF6
    OriGene siRNA: GDF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GDF6
    Clone
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    Primer
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.102822567  DT.120636581 

    1 AceView cDNA sequence:

    BV188723 

    GeneLoc Exon Structure


    Expression
    for GDF6 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

    GDF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAATTCATCC

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

    GDF6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageAutopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageStylopod Articular CartilageArticular Cartilage CellsCartilage
    CartilageZeugopod Articular CartilageArticular Cartilage CellsCartilage
    LimbAutopod Synovial JointInterzone CellsCartilage
    LungTracheal CartilageChondrocytesLung
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    LimbAutopodLimb
    LungTracheal CartilageLung
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    Beating cell clusters (Spontaneous differen...)

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF6

    Orthologs
    for GDF6 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 GDF6 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    for GDF6 gene

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

    GDF6 for paralogs           About GeneDecksing



    Genomic Variants
    for GDF6 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

    10/283 NCBI SNPs in GDF6 are shown (see all 283)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219093531,2
    		C,pathogenic92362450(-) CACCAA/GATTGA 2 K R mis10--------
    rs637512201,2
    		Cpathogenic92362855(-) GAACCC/TGTTCG 2 P L mis10--------
    rs1219093521,2
    		Cpathogenic92362975(-) GCGCGA/CGCGGG 2 E A mis10--------
    rs1219093541,2
    		C,F,pathogenic92378358(-) CAAGGG/TCATGC 2 G V mis11Minor allele frequency- T:0.00NA 3992
    rs798897891,2
    		--92359835(+) AAATAA/GTCCAA 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs70030791,2
    		C,F,--92360135(+) AAAATG/ACGTTT 1 -- ut315Minor allele frequency- A:0.22NA WA CSA 126
    rs1140602931,2
    		C,F,--92360156(+) CATTCG/AATTGC 1 -- ut311Minor allele frequency- A:0.03WA 118
    rs360287121,2
    		C,F,H,--92360350(+) TCTGAT/CTAATG 1 -- ut3119Minor allele frequency- C:0.07NS EA NA WA 2316
    rs1125428181,2
    		C,--92360373(+) CAACTC/TGAATA 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs800852121,2
    		F,--92361261(+) TTCTAC/GTTCTT 1 -- ut312Minor allele frequency- G:0.01WA NA 238

    HapMap Linkage Disequilibrium report for GDF6 (97154558 - 97173020 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GDF6: --
    Human Gene Mutation Database (HGMD): GDF6

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    Disorders / Diseases
    for GDF6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GDF6 for disorders           About GeneDecksing

    OMIM gene information: 601147   
    OMIM disorders: 118100  613094  613703  
    UniProtKB/Swiss-Prot: GDF6_HUMAN, Q6KF10
  • Defects in GDF6 are the cause of Klippel-Feil syndrome type 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 well-known feature of KFS and may be of sensorineural, conductive,
    or mixed type
  • Note=A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS).
    • Paracentric inv(8)(q22;2q23.3)
  • Defects in GDF6 are the cause of microphthalmia isolated type 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, cataract and other
    abnormalities like cataract may also be present

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

    5 diseases from the University of Copenhagen DISEASES database for GDF6:
    Klippel-Feil syndrome     Microphthalmia     Coloboma     Klinefelter's syndrome
    Azoospermia
    Human Genome Epidemiology (HuGE) Navigator: GDF6 (5 documents)

    Export disorders for GDF6 gene to outside databases

    Publications
    for GDF6 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 GDF6 gene, integrated from 9 sources (see all 29):
    (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. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (PubMed id 18425797)1, 2 Tassabehji M....Clarke R.A. (2008)
    3. 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)
    4. 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)
    5. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. (PubMed id 18716610)1, 9 Chiquet B.T....Hecht J.T. (2008)
    6. 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)
    7. Divergent activities of osteogenic BMP2, and tenogeni c BMP12 and BMP13 independent of receptor binding affinities. (PubMed id 21702718)1 Berasi S.P....Jelinsky S.A. (2011)
    8. 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 Gonzalez-Rodriguez J....Zenteno J.C. (2010)
    9. Mutation of the bone morphogenetic protein GDF3 cause s ocular and skeletal anomalies. (PubMed id 19864492)2 Ye M....Lehmann O.J. (2010)
    10. BMP12 and BMP13 gene transfer induce ligamentogenic d ifferentiation in mesenchymal progenitor and anterior cruciate ligament cells. (PubMed id 20334610)1 Haddad-Weber M....Steinert A.F. (2010)

    External Searches for GDF6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing GDF6 gene

    (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

    Other Databases showing GDF6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GDF6 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 GDF6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for GDF6 gene

    (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

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