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GDF2 Gene

protein-coding   GIFtS: 56
GCID: GC10M048413

Growth Differentiation Factor 2

  See GDF2-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 21 2     GDF-22 3
BMP92 3 5     HHT52 5
Bone Morphogenetic Protein 92 3     Growth/Differentiation Factor 22
BMP-92 3     

External Ids:    HGNC: 42171   Entrez Gene: 26582   Ensembl: ENSG000001288027   OMIM: 6051205   UniProtKB: Q9UK053   

Export aliases for GDF2 gene to outside databases

Previous GC identifers: GC10P047523 GC10P047653 GC10M048349 GC10M047807 GC10M048033 GC10M043166


(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 GDF2 Gene:
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta
superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved
to produce a mature protein containing seven conserved cysteine residues. The members of this family are
regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest
that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system
neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. (provided by RefSeq,
Jan 2014)

GeneCards Summary for GDF2 Gene:
GDF2 (growth differentiation factor 2) is a protein-coding gene. Diseases associated with GDF2 include telangiectasia, hereditary hemorrhagic, type 5, and hereditary hemorrhagic telangiectasia. GO annotations related to this gene include growth factor activity and cytokine activity. An important paralog of this gene is GDF5.

UniProtKB/Swiss-Prot: GDF2_HUMAN, Q9UK05
Function: Potent circulating inhibitor of angiogenesis. Could be involved in bone formation. Signals through the
type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta
coreceptor endoglin/ENG

Gene Wiki entry for GDF2 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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GDF2 gene promoter:
         GR-beta   Lmo2   HNF-4alpha1   Ik-2   POU2F1   HOXA5   POU2F1a   POU2F1b   POU2F1c   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGDF2 promoter sequence
   Search Chromatin IP Primers for GDF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GDF2


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

Entrez Gene cytogenetic band: 10q11.22   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.22

GDF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GDF2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M048413:  view genomic region     (about GC identifiers)

Start:
48,413,092 bp from pter      End:
48,416,853 bp from pter
Size:
3,762 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GDF2_HUMAN, Q9UK05 (See protein sequence)
Recommended Name: Growth/differentiation factor 2 precursor  
Size: 429 amino acids; 47320 Da
Subunit: Homodimer; disulfide-linked. Interacts with ENG
2 PDB 3D structures from and Proteopedia for GDF2:
1ZKZ (3D)        4FAO (3D)    
Secondary accessions: Q5VSQ9 Q9Y571

Explore the universe of human proteins at neXtProt for GDF2: NX_Q9UK05

Explore proteomics data for GDF2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn71, Asn136
  • Modification sites at PhosphoSitePlus

  • See GDF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057288.1  
    ENSEMBL proteins: 
     ENSP00000249598  

    GDF2 Human Recombinant Protein Products:

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    Novus Biologicals GDF2 Proteins
    Novus Biologicals GDF2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GDF2

     
    Search eBioscience for Proteins for GDF2 

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GDF2
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    Search eBioscience for ELISAs for GDF2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    5 InterPro protein domains:
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR002405 Inhibin_asu
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry Q9UK05

    ProtoNet protein and cluster: Q9UK05

    4 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature
    IPB002405 Inhibin alpha chain signature


    UniProtKB/Swiss-Prot: GDF2_HUMAN, Q9UK05
    Similarity: Belongs to the TGF-beta family


    Find genes that share domains with GDF2           About GenesLikeMe


    (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,
    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: GDF2_HUMAN, Q9UK05
    Function: Potent circulating inhibitor of angiogenesis. Could be involved in bone formation. Signals through the
    type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta
    coreceptor endoglin/ENG

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005515protein binding IPI17068149
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with GDF2           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gdf2):
     cardiovascular system  skeleton  vision/eye 

    Find genes that share phenotypes with GDF2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Gdf2tm1Sjl for GDF2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GDF2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GDF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GDF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GDF2

    miRNA
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    Block miRNA regulation of human, mouse, rat GDF2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GDF2
    SwitchGear 3'UTR luciferase reporter plasmidGDF2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GDF2
    Predesigned siRNA for gene silencing in human, mouse, rat GDF2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: GDF2 (NM_016204)
    Sino Biological Human cDNA Clone for GDF2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDF2

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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10343) for GDF2 


    (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
    GDF2_HUMAN, Q9UK05: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with GDF2           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 GDF2 About   (see all 13)  
    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

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GDF2 (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer

    1 BioSystems Pathway for GDF2
        ALK1 signaling events



        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDF2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Common Cytokines in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GDF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for GDF2 (ENSP000002495984) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR2AENSP000002414164STRING: ENSP00000241416
    ACVR2BENSP000003403614STRING: ENSP00000340361
    BMPR2ENSP000003637084STRING: ENSP00000363708
    SMAD9ENSP000003691544STRING: ENSP00000369154
    LTBP1ENSP000003464674STRING: ENSP00000346467
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification TAS--
    GO:0001525angiogenesis IMP--
    GO:0001569patterning of blood vessels IDA--
    GO:0001570vasculogenesis IEA--
    GO:0001649osteoblast differentiation IEA--

    Find genes that share ontologies with GDF2           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 GDF2

    1 Novoseek inferred chemical compound relationship for GDF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 0 5 12598908 (3), 15851468 (1)



    Find genes that share compounds with GDF2           About GenesLikeMe



    (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 GDF2 gene: 
    NM_016204.2  

    Unigene Cluster for GDF2:

    Growth differentiation factor 2
    Hs.279463  [show with all ESTs]
    Unigene Representative Sequence: NM_016204
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000249598(uc001jfa.1)
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GDF2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GDF2 (NM_016204)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GDF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDF2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GDF2
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      QuantiFast Probe-based Assays in human, mouse, rat GDF2
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10343) for GDF2 

    Additional mRNA sequence: 

    AF156891.1 AF188285.1 AK314956.1 BC069643.1 BC074921.2 

    1 DOTS entry:

    DT.91741484 

    6 AceView cDNA sequences:

    AF156891 BC069643 BC074921 BX494908 NM_016204 AF188285 

    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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    GDF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCCAATT
    GDF2 Expression
    About this image

    GDF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.279463
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDF2: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Common Cytokines in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Stem Cells in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GDF2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDF2

    (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 GDF2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdf21 , 5 growth differentiation factor 21, 5 82.09(n)1
    80.37(a)1
      14 (20.80 cM)5
    121651  NM_019506.41  NP_062379.31 
     339410395 
    chicken
    (Gallus gallus)
    Aves GDF21 growth differentiation factor 2 63.94(n)
    61.78(a)
      396412  NM_205432.1  NP_990763.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gdf21 growth differentiation factor 2 53.7(n)
    47.13(a)
      100485289  XM_002940646.2  XP_002940692.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gdf21 growth differentiation factor 2 54.93(n)
    46.57(a)
      563287  NM_001171586.1  NP_001165057.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gbb6
    glass bottom boat
    24(a)
    1 → many
    2R(19739106-19740772)
    worm
    (Caenorhabditis elegans)
    Secernentea dbl-16
    Protein DBL-1 (dbl-1) mRNA, complete cds
    26(a)
    1 → many
    V(6758135-6760409) WBGene00000936


    ENSEMBL Gene Tree for GDF2 (if available)
    TreeFam Gene Tree for GDF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GDF2 gene
    GDF52  BMP52  GDF32  BMP8B2  GDF62  BMP42  GDF72  BMP22  
    BMP102  BMP72  GDF12  BMP8A2  BMP62  
    1 SIMAP similar gene for GDF2 using alignment to 1 protein entry:     GDF2_HUMAN:
    BMP10

    Find genes that share paralogs with GDF2           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 GDF2 (see all 189)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0706894
    Telangiectasia, hereditary hemorrhagic, 5 (HHT5)4--see VAR_0706892 R L mis40--------
    VAR_0706914
    Telangiectasia, hereditary hemorrhagic, 5 (HHT5)4--see VAR_0706912 R W mis40--------
    VAR_0706904
    Telangiectasia, hereditary hemorrhagic, 5 (HHT5)4--see VAR_0706902 P L mis40--------
    rs94217991,2
    C,F,A,H--48412830(+) AGCATT/GTGGCC 1 -- int116Minor allele frequency- G:0.40NS EA NA WA CSA 788
    rs1925540971,2
    --48412942(+) CACTCC/TTGGGC 1 -- int10--------
    rs727920431,2
    C--48413125(+) AACTGG/AGTTGT 1 -- ut311Minor allele frequency- A:0.50NA 2
    rs343791001,2
    C,F--48413181(+) CCCTCT/GACTCC 1 -- ut315Minor allele frequency- G:0.24NA WA 244
    rs1841925491,2
    C--48413257(+) TGCCCA/GCCTGT 1 -- ut310--------
    rs37402971,2
    C,F,H--48413273(+) TCTGGC/TTCACT 1 -- ut3117Minor allele frequency- T:0.14EA NA NS 3316
    rs611066751,2
    C,F--48413362(+) CCAGGC/ATTTCC 1 -- ut311Minor allele frequency- A:0.07WA 118

    HapMap Linkage Disequilibrium report for GDF2 (48413092 - 48416853 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GDF2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436102CNV Deletion17901297
    esv2736163CNV Deletion23290073
    nsv831861CNV Loss17160897
    nsv528799CNV Loss19592680
    nsv895342CNV Loss21882294
    nsv895344CNV Loss21882294
    dgv696n71CNV Gain21882294
    nsv895343CNV Gain21882294
    nsv467059CNV Gain19166990
    nsv8636CNV Gain+Loss18304495

    Human Gene Mutation Database (HGMD): GDF2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GDF2
    DNA2.0 Custom Variant and Variant Library Synthesis for GDF2

    (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.)
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    OMIM gene information: 605120   
    OMIM disorders: 615506  
    UniProtKB/Swiss-Prot: GDF2_HUMAN, Q9UK05
  • Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]: A multisystemic vascular dysplasia leading
    to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease
    is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes
    arteriovenous malformations of the lung, liver, and brain. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 3 diseases for GDF2:    
    About MalaCards
    telangiectasia, hereditary hemorrhagic, type 5    hereditary hemorrhagic telangiectasia    hepatopulmonary syndrome

    1 disease from the University of Copenhagen DISEASES database for GDF2:
    Hereditary hemorrhagic telangiectasia

    Find genes that share disorders with GDF2           About GenesLikeMe

    Genetic Association Database (GAD): GDF2
    Human Genome Epidemiology (HuGE) Navigator: GDF2 (6 documents)

    Export disorders for GDF2 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)
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    PubMed articles for GDF2 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with GDF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of BMP-9 and functional interactions with pro- region and receptors. (PubMed id 15851468)1, 2, 9 Brown M.A.... Choe S. (J. Biol. Chem. 2005)
    2. Bone morphogenetic protein-9 is a circulating vascular quiescence factor. (PubMed id 18309101)1, 2, 9 David L.... Bailly S. (Circ. Res. 2008)
    3. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. (PubMed id 23972370)1, 2 Wooderchak-Donahue W.L....Bayrak-Toydemir P. (Am. J. Hum. Genet. 2013)
    4. Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex. (PubMed id 22718755)1, 2 Townson S.A....Grinberg A.V. (J. Biol. Chem. 2012)
    5. Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth. (PubMed id 21737454)1, 2 Castonguay R.... Grinberg A.V. (J. Biol. Chem. 2011)
    6. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)
    7. 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)
    8. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    9. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    10. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2658 HGNC: 4217 AceView: GDF2 Ensembl:ENSG00000128802 euGenes: HUgn2658
    ECgene: GDF2 H-InvDB: GDF2

    (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)
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    NameDescription
    PharmGKB entry for GDF2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/GDF2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GDF2 gene:
    Search GeneIP for patents involving GDF2

    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, LSBio, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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