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GDF6 Gene

protein-coding   GIFtS: 54
GCID: GC08M097223

Growth Differentiation Factor 6

(Previous name: segmentation syndrome 1)
(Previous symbol: SGM1)
  See GDF6-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Growth Differentiation Factor 61 2     CDMP22
SGM11 2     KFM2
Growth/Differentiation Factor 162 3     KFS2
BMP132 3     KFSL2
GDF-62 3     SCDO42
KFS12 5     Growth/Differentiation Factor 62
LCA172 5     Klip-Feil Malformation2
MCOP42 5     Klippel-Feil Malformation2
MCOPCB62 5     Klippel-Feil Syndrome2
Segmentation Syndrome 11     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for 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 leber congenital amaurosis 17, and segmentation syndrome 1. GO annotations related to this gene include growth factor activity and protein homodimerization activity. An important paralog of this gene is GDF5.

UniProtKB/Swiss-Prot: GDF6_HUMAN, Q6KF10
Function: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation.
Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional
information in the retina and controls the formation of the retinotectal map. 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. May signal through the growth factor receptors subunits BMPR1A, BMPR1B,
BMPR2 and ACVR2A

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   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 Chromatin IP Primers for GDF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Glycosylation2 at Asn114

  • See GDF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001001557.1  
    ENSEMBL proteins: 
     ENSP00000287020  

    GDF6 Human Recombinant Protein Products:

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    antibodies-online proteins for GDF6 (10 products) 

     
    antibodies-online peptides for GDF6

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

    Graphical View of Domain Structure for InterPro Entry 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


    Find genes that share domains with GDF6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GDF6_HUMAN, Q6KF10
    Function: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation.
    Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional
    information in the retina and controls the formation of the retinotectal map. 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. May signal through the growth factor receptors subunits BMPR1A, BMPR1B,
    BMPR2 and ACVR2A

         Summary: 

    During embryonic development, GDF6 as signaling molecule affects the following cells:
    Bone: Presumptive Suture Cells (Rostral Sutures)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0008083growth factor activity IEA--
    GO:0042803protein homodimerization activity IEA--
         
    Find genes that share ontologies with GDF6           About GenesLikeMe


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

    Find genes that share phenotypes with GDF6           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for GDF6

    miRNA
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    Block miRNA regulation of human, mouse, rat GDF6 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidGDF6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GDF6
    Predesigned siRNA for gene silencing in human, mouse, rat GDF6

    Gene Editing
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    Sino Biological Human cDNA Clone for GDF6
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GDF6_HUMAN, Q6KF10: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane2
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with GDF6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for 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
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51


    Find genes that share SuperPaths with GDF6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        Search GeneGlobe Interaction Network for GDF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for GDF6 (Q6KF103 ENSP000002870204) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ISS--
    GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylation IDA16049014
    GO:0030509BMP signaling pathway IDA16049014
    GO:0032924activin receptor signaling pathway IDA16049014
    GO:0040007growth IEA--

    Find genes that share ontologies with GDF6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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 plasmidGDF6 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GDF6
      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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GDF6 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Articular Cartilage Cells Autopod Articular Cartilage
             Tracheal Cartilage
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Presumptive Suture Cells Rostral Sutures
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Interzone Cells Autopod Synovial Joint
             Autopod
     
     Eye (Sensory Organs)
             Retina
    GDF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDF6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492277
        Pathway & Disease-focused RT2 Profiler 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 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GDF6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdf61 , 5 growth differentiation factor 61, 5 85.66(n)1
    87.36(a)1
      4 (4.35 cM)5
    2423161  NM_013526.11  NP_038554.11 
     98443725 
    lizard
    (Anolis carolinensis)
    Reptilia GDF66
    growth differentiation factor 6
    61(a)
    1 ↔ 1
    4(19826432-19850791)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.5772 Xenopus laevis growth and differentiation factor 6 (GDF6) mRNA, complete cds less 80.75(n)    AF155125.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gdf6b2 growth differentiation factor 6b 74.11(n)   30180  NM_130987.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dpp6
    decapentaplegic
    18(a)
    1 → many
    2L(2428372-2459823)


    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)
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    Paralogs for GDF6 gene
    GDF52  BMP52  GDF32  BMP8B2  BMP42  GDF72  GDF22  BMP22  
    BMP102  BMP72  GDF12  BMP8A2  BMP62  
    5 SIMAP similar genes for GDF6 using alignment to 5 protein entries:     GDF6_HUMAN (see all proteins):
    BMP2    GDF5    GDF7    gdf7    BMPY

    Find genes that share paralogs with GDF6           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GDF6 (see all 385)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219093531,2,,4
    CKlippel-Feil syndrome 1, autosomal dominant (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, autosomal dominant (KFS1)4 pathogenic192378358(-) CAAGGG/TCATGC 2 G V mis11Minor allele frequency- T:0.00NA 3992
    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, autosomal dominant (KFS1)4--see VAR_0469042 L P mis40--------
    VAR_0651514
    Leber congenital amaurosis 17 (LCA17)4--see VAR_0651512 A T mis40--------
    VAR_0702554
    Leber congenital amaurosis 17 (LCA17)4--see VAR_0702552 E D mis40--------

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GDF6
    DNA2.0 Custom Variant and Variant Library Synthesis for GDF6

    (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

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    OMIM gene information: 601147   
    OMIM disorders: 118100  613094  613703  615360  
    UniProtKB/Swiss-Prot: GDF6_HUMAN, Q6KF10
  • Klippel-Feil syndrome 1, autosomal dominant (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
  • Leber congenital amaurosis 17 (LCA17) [MIM:615360]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for GDF6:    
    About MalaCards
    leber congenital amaurosis 17    segmentation syndrome 1    microphthalmia with coloboma 6, digenic    klippel-feil syndrome
    klippel-feil syndrome 1, autosomal dominant    microphthalmia, isolated 4    coloboma    matthew-wood syndrome
    leber congenital amaurosis

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

    Find genes that share disorders with GDF6           About GenesLikeMe

    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

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    PubMed articles for GDF6 gene, integrated from 10 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. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. (PubMed id 18425797)1, 2, 3 Tassabehji M.... Clarke R.A. (Hum. Mutat. 2008)
    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. (Eur. J. Hum. Genet. 2009)
    3. Incomplete penetrance and phenotypic variability characterize Gdf6- attributable oculo-skeletal phenotypes. (PubMed id 19129173)1, 2, 9 Asai-Coakwell M....Lehmann O.J. (Hum. Mol. Genet. 2009)
    4. Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. (PubMed id 23307924)1, 2 Asai-Coakwell M....Lehmann O.J. (Hum. Mol. Genet. 2013)
    5. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (PubMed id 20494911)1, 4 Gonzalez-Rodriguez J....Zenteno J.C. (Br J Ophthalmol 2010)
    6. 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. (Hum. Genet. 2010)
    7. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PubMed id 20057906)1, 4 Zhang X....Zhang Q. (Mol. Vis. 2009)
    8. 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. (Genome Res. 2004)
    9. 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. (Genome Res. 1999)
    10. High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-I^ family member growth differentiation factor 6. (PubMed id 22049084)1 Zhang L....Zhang K. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 392255 HGNC: 4221 AceView: GDF6.1 Ensembl:ENSG00000156466 euGenes: HUgn392255
    ECgene: GDF6 Kegg: 392255 H-InvDB: GDF6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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