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GDNF Gene

protein-coding   GIFtS: 67
GCID: GC05M037812

Glial Cell Derived Neurotrophic Factor

  See GDNF-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
Glial Cell Derived Neurotrophic Factor1 2     ATF12
Astrocyte-Derived Trophic Factor1 2 3     ATF22
ATF2 3     HFB1-GDNF2
HSCR32 5     Glial Cell Line-Derived Neurotrophic Factor2
Glial Cell Line Derived Neurotrophic Factor1     hGDNF3
Glial Derived Neurotrophic Factor1     

External Ids:    HGNC: 42321   Entrez Gene: 26682   Ensembl: ENSG000001686217   OMIM: 6008375   UniProtKB: P399053   

Export aliases for GDNF gene to outside databases

Previous GC identifers: GC05M037999 GC05M038881 GC05M037815 GC05M037861 GC05M037851 GC05M037765


(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 GDNF Gene:
This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein was shown to
promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of
motor neurons induced by axotomy. The encoded protein is processed to a mature secreted form that exists as a
homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection)
protooncogene. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations
in this gene may be associated with Hirschsprung disease. (provided by RefSeq, Jun 2010)

GeneCards Summary for GDNF Gene:
GDNF (glial cell derived neurotrophic factor) is a protein-coding gene. Diseases associated with GDNF include spinal cord injury, and hirschsprung disease type 3. GO annotations related to this gene include growth factor activity and protein homodimerization activity. An important paralog of this gene is PSPN.

UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905
Function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and
increases their high-affinity dopamine uptake

Gene Wiki entry for GDNF (Glial cell line-derived neurotrophic factor) 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_000005.9  NC_018916.2  NT_006576.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GDNF gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GDNF promoter sequence
   Search Chromatin IP Primers for GDNF

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


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

Entrez Gene cytogenetic band: 5p13.1-p12   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.1-p12

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M037812:  view genomic region     (about GC identifiers)

Start:
37,812,779 bp from pter      End:
37,839,788 bp from pter
Size:
27,010 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: GDNF_HUMAN, P39905 (See protein sequence)
Recommended Name: Glial cell line-derived neurotrophic factor precursor  
Size: 211 amino acids; 23720 Da
Subunit: Homodimer; disulfide-linked
2 PDB 3D structures from and Proteopedia for GDNF:
2V5E (3D)        3FUB (3D)    
Secondary accessions: B7WPK7 O95448 O95449 O95986 Q6FH33 Q96L44 Q9UD32 Q9UD33 Q9UMV2 Q9UP67
Q9UP97
Alternative splicing: 5 isoforms:  P39905-1   P39905-2   P39905-3   P39905-4   P39905-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GDNF: NX_P39905

Explore proteomics data for GDNF at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn126, Asn162
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (5 alternative transcripts): 
    NP_000505.1  NP_001177397.1  NP_001177398.1  NP_954701.1  NP_001265027.1  

    ENSEMBL proteins: 
     ENSP00000317145   ENSP00000371248   ENSP00000409007   ENSP00000425928   ENSP00000424592  
     ENSP00000423557   ENSP00000339703  
    Reactome Protein details: P39905

    GDNF Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant GDNF Protein
    R&D Systems Recombinant & Natural Proteins for GDNF
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for GDNF
    OriGene Protein Over-expression Lysate for GDNF
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GDNF
    GenScript Purified and Recombinant Proteins for GDNF
    Novus Biologicals GDNF Proteins
    Novus Biologicals GDNF Lysates
    Sino Biological Recombinant Protein for GDNF
    Sino Biological Cell Lysate for GDNF
    ProSpec Recombinant Protein for GDNF
    Cloud-Clone Corp. Proteins for GDNF

     
    eBioscience Proteins for GDNF:  
                        Human Glial Cell Derived Neurotrophic Factor (GDNF) Recombinant Protein 5 ug

    GDNF Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GDNF
    R&D Systems Antibodies for GDNF
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for GDNF
    Novus Biologicals GDNF Antibodies
    Abcam antibodies for GDNF
    Cloud-Clone Corp. Antibodies for GDNF
    ThermoFisher Antibodies for GDNF
    LSBio Antibodies in human, mouse, rat for GDNF

    GDNF Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GDNF
    R&D Systems ELISAs for GDNF         (see all)
    GenScript Custom Assay Services for GDNF
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GDNF
    Cloud-Clone Corp. CLIAs for GDNF
    Search eBioscience for ELISAs for GDNF 


    (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

    2 InterPro protein domains:
     IPR016649 GDNF
     IPR001839 TGF-b_C

    Graphical View of Domain Structure for InterPro Entry P39905

    ProtoNet protein and cluster: P39905

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


    UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905
    Similarity: Belongs to the TGF-beta family. GDNF subfamily


    Find genes that share domains with GDNF           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: GDNF_HUMAN, P39905
    Function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and
    increases their high-affinity dopamine uptake
    Induction: By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and FGF2

         Genatlas biochemistry entry for GDNF:
    glial cell line derived neurotrophic factor (TGFB superfamily),promotic survival and differentiation of
    subpopulations of central and peripheral neurons including several groups that are altered in many
    neurodegenerative disorders,expressed in developing gut,kidney,mesenchyma,and central nervous system

         Summary: 
    During embryonic development, GDNF as signaling molecule is secreted from the following cells:
          selected tissues (see all 3)      
    Kidney: Metanephric Mesenchyme Cells (Metanephric Mesenchyme)
    Testis: Sertoli cells (Seminiferous Tubules)

    It affects the following cells:
          selected tissues (see all 4)
    Brain: Fetal Dopaminergic Neurons (Ventral Tegmental Area), Fetal Dopaminergic Neurons (Substantia Nigra pars Compacta)       to see all 2 cells
    Kidney: Ureteric Bud Cells (Ureteric Bud)

    GDNF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
          selected tissues (see all 7)      fully expand
    Neurons: Motor neuron-like cells, Motor neuron-like and interneuron-like cells (Mm)      fully expand to see all 9 cells
    Spinal Cord: Motor neuron-like cells, Motor neuron progenitors      fully expand to see all 9 cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS10829012
    GO:0008083growth factor activity IEA--
    GO:0042803protein homodimerization activity IDA8493557
         
    Find genes that share ontologies with GDNF           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gdnf):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  immune system  mortality/aging  muscle 
     nervous system  renal/urinary system  reproductive system 

    Find genes that share phenotypes with GDNF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GDNF: Gdnftm2Bbd Gdnftm1Lmgd

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

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

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for GDNF (see all 381):
    A4GALT,  AATK,  ACRBP,  ACY3,  ADAM17,  ADAT3,  ADRB1,  ALOX15,  ALPPL2,  AMACR

    miRNA
    Products:
        
    miRTarBase miRNAs that target GDNF:
    hsa-mir-128-3p (MIRT022032), hsa-mir-148b-3p (MIRT019438), hsa-mir-7-5p (MIRT025911)

    Block miRNA regulation of human, mouse, rat GDNF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GDNF (see all 105):
    hsa-miR-411* hsa-miR-548j hsa-miR-3607-3p hsa-miR-4254 hsa-miR-146a hsa-miR-1224-3p hsa-miR-218-1* hsa-miR-1260b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GDNF
    Predesigned siRNA for gene silencing in human, mouse, rat GDNF

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

    Clone
    Products:
         
    OriGene clones in human, mouse for GDNF (see all 22)
    OriGene ORF clones in mouse, rat for GDNF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GDNF (NM_199231)
    Sino Biological Human cDNA Clone for GDNF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GDNF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDNF
    Addgene plasmids for GDNF 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GDNF
    Browse ESI BIO Cell Lines and PureStem Progenitors for GDNF 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GDNF


    (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
    GDNF_HUMAN, P39905: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    nucleus2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA9811930

    Find genes that share ontologies with GDNF           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 GDNF About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Development EGFR signaling pathway
    Development GDNF family signaling0.45
    GDNF-Family Ligands and Receptor Interactions0.41
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3NCAM signaling for neurite out-growth
    NCAM1 interactions0.59
    NCAM signaling for neurite out-growth0.59
    4PEDF Induced Signaling
    PEDF Induced Signaling0.73
    5TGF-beta Signaling Pathway (sino)
    TGF-beta Signaling Pathway


    Find genes that share SuperPaths with GDNF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GDNF
        GDNF-Family Ligands and Receptor Interactions
    PEDF Induced Signaling

    2 GeneGo (Thomson Reuters) Pathways for GDNF
        G-protein signaling H-RAS regulation pathway
    Development GDNF family signaling

    2 BioSystems Pathways for GDNF
        Spinal Cord Injury
    Signaling events regulated by Ret tyrosine kinase

    1 Sino Biological Pathway for GDNF
        TGF-beta Signaling Pathway

    1 Reactome Pathway for GDNF
        NCAM1 interactions


        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDNF: 
              Neurogenesis in human mouse rat
              Growth Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GDNF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GDNF (P399053 ENSP000003171454) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFRA2O004513, ENSP000003066544I2D: score=2 STRING: ENSP00000306654
    GFRA1P561593, ENSP000003937254I2D: score=3 STRING: ENSP00000393725
    NCAM1P135913, ENSP000003184724I2D: score=1 STRING: ENSP00000318472
    RETP079493, ENSP000003479424I2D: score=1 STRING: ENSP00000347942
    ARTNENSP000003919984STRING: ENSP00000391998
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development ISS--
    GO:0001657ureteric bud development ----
    GO:0001658branching involved in ureteric bud morphogenesis ISS--
    GO:0001755neural crest cell migration IDA15242795
    GO:0001759organ induction IEA--

    Find genes that share ontologies with GDNF           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 GDNF

    1 HMDB Compound for GDNF    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Selected Novoseek inferred chemical compound relationships for GDNF gene (see all 75)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 74.9 229 10448070 (2), 11002419 (2), 18343820 (2), 17210798 (2) (see all 99)
    rasagiline 70.2 22 14687604 (3), 17055733 (1), 18077571 (1), 19673610 (1) (see all 8)
    dopamine 69.4 249 10642847 (6), 9681441 (5), 7830766 (4), 17895431 (4) (see all 96)
    6-hydroxydopamine 66.8 23 7568047 (2), 9449424 (1), 11069582 (1), 14597321 (1) (see all 18)
    ammonium trichloro(dioxoethylene-o,o')tellurate 62.9 1 12595497 (1)
    mptp 59.1 29 7830766 (3), 17141511 (3), 8637574 (1), 17439984 (1) (see all 13)
    propargylamine 57.7 2 18077571 (1), 16148027 (1)
    as 101 47.3 5 16169589 (2), 12595497 (1), 17314138 (1)
    1 methyl 4 phenylpyridinium 46.4 13 8522992 (5), 17109014 (2), 19647008 (1), 10465695 (1)
    phosphatidylinositol 45 34 11377858 (3), 9798915 (3), 15289335 (2), 18071753 (2) (see all 20)



    Find genes that share compounds with GDNF           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 GDNF gene (6 alternative transcripts): 
    NM_000514.3  NM_001190468.1  NM_001190469.1  NM_199231.2  NM_199234.1  NM_001278098.1  

    Unigene Cluster for GDNF:

    Glial cell derived neurotrophic factor
    Hs.248114  [show with all ESTs]
    Unigene Representative Sequence: NM_001190468
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000326524(uc011cpg.2 uc011cpi.2) ENST00000381826 ENST00000427982
    ENST00000515058 ENST00000510177 ENST00000502572 ENST00000344622(uc011cpd.2 uc011cpe.2 uc011cpf.2 uc011cph.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat GDNF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GDNF (see all 105):
    hsa-miR-411* hsa-miR-548j hsa-miR-3607-3p hsa-miR-4254 hsa-miR-146a hsa-miR-1224-3p hsa-miR-218-1* hsa-miR-1260b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GDNF
    Clone
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    OriGene clones in human, mouse for GDNF (see all 22)
    OriGene ORF clones in mouse, rat for GDNF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GDNF (NM_199231)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GDNF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GDNF
    Addgene plasmids for GDNF 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GDNF
    OriGene qSTAR qPCR primer pairs in human, mouse for GDNF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GDNF
      QuantiTect SYBR Green Assays in human, mouse, rat GDNF
      QuantiFast Probe-based Assays in human, mouse, rat GDNF

    Additional mRNA sequence: 

    AF053748.1 AJ001897.1 AJ001898.1 AJ001899.1 AJ001900.1 AY052832.1 BC008580.1 BC069119.1 
    BC069369.1 BC128108.1 BC128109.1 CR541923.1 DQ235474.1 

    5 DOTS entries:

    DT.92022248  DT.319760  DT.426387  DT.95360768  DT.433113 

    12 AceView cDNA sequences:

    BC069369 NM_000514 NM_199234 AJ001900 AF053748 BC069119 AY052832 AJ001897 
    AJ001898 CR541923 NM_199231 AJ001899 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GDNF    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b
    SP1:        -     -                           
    SP2:              -                           
    SP3:                          -               


    ECgene alternative splicing isoforms for GDNF

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


    GDNF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
             mK4
             Renal progenitor cells (Metanephric Mesenchyme-like cells)
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebellum
             Encapsulated choroid plexus cells (NTCELL)
             Astrocyte-like cells
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Sertoli cells Seminiferous Tubules
             Long-time differentiated EBs
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Odontoblasts Dentin
             Dentin
     
     Epithelial Cells
             Adult Corneal Superbasal Epithelial Cells Corneal Epithelium
    GDNF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GDNF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248114

    UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905
    Tissue specificity: In the brain, predominantly expressed in the striatum with highest levels in the caudate and
    lowest in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney.
    Highest expression of isoform 3 is found in pancreatic islets. Isoform 5 is expressed at very low levels in
    putamen, nucleus accumbens, prefrontal cortex, amygdala, hypothalamus and intestine. Isoform 3 is up-regulated in
    the middle temporal gyrus of Alzheimer disease patients while isoform 2 shows no change

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GDNF: 
              Neurogenesis in human mouse rat
              Growth Factors in human mouse rat
              WNT Signaling Targets in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              Apoptosis 384HT in human mouse rat

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    (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 chordates.

    Orthologs for GDNF gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gdnf1 , 5 glial cell line derived neurotrophic factor1, 5 90(n)1
    92.73(a)1
      15 (3.80 cM)5
    145731  NM_010275.21  NP_034405.11 
     78110115 
    chicken
    (Gallus gallus)
    Aves GDNF1 glial cell derived neurotrophic factor 79.78(n)
    78.2(a)
      395569  XM_425018.4  XP_425018.4 
    lizard
    (Anolis carolinensis)
    Reptilia GDNF6
    glial cell derived neurotrophic factor
    61(a)
    1 ↔ 1
    GL343241.1(752895-778070)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gdnf1 glial cell derived neurotrophic factor 65.71(n)
    65.07(a)
      100498061  XM_002938186.2  XP_002938232.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gdnf2 glial cell derived neurotrophic factor 72.79(n)   79379  AF329853.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GDNF gene
    PSPN2  ARTN2  NRTN2  
    1 SIMAP similar gene for GDNF using alignment to 1 protein entry:     GDNF_HUMAN:
    NRTN

    Find genes that share paralogs with GDNF           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 GDNF (see all 530)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0181524
    Hirschsprung disease 3 (HSCR3)4--see VAR_0181522 I M mis40--------
    VAR_0094974
    Hirschsprung disease 3 (HSCR3)4--see VAR_0094972 T S mis40--------
    rs361198401,2,,4
    C,F,Hpathogenic137760467(+) CTGCCG/AATTCC 10 /R /W mis18Minor allele frequency- A:0.00NA NS EU 6623
    rs1219185361,2
    Cother137760111(-) TGTATC/GTGACT 10 I M mis10--------
    rs1048938911,2
    Cother137760284(-) CTGAGA/TCAACG 10 T S mis10--------
    rs764660031,2,,4
    C,Fother137760296(-) CTTGCG/AATGCA 10 /N /D mis11Minor allele frequency- A:0.00NA 4550
    rs1927439241,2
    --37756642(+) TGACTC/TAGTTT 5 -- ds50010--------
    rs1853986891,2
    --37756754(+) AGTGTC/TTATAT 5 -- ds50010--------
    rs1144666561,2
    C,F--37756788(+) TTAGCG/ATTTCT 5 -- ds50011Minor allele frequency- A:0.01NA 120
    rs778298731,2
    C,F--37756810(+) TCACTA/GCATAT 5 -- ds50011Minor allele frequency- G:0.11WA 118

    HapMap Linkage Disequilibrium report for GDNF (37812779 - 37839788 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GDNF:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv26026CNV Loss19812545

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600837   
    OMIM disorders: 209880  171300  613711  
    UniProtKB/Swiss-Prot: GDNF_HUMAN, P39905
  • Hirschsprung disease 3 (HSCR3) [MIM:613711]: A disorder of neural crest development characterized by
    absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital
    intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting,
    abdominal distention and failure to pass stool, to chronic constipation in the older child. Note=The disease may
    be caused by mutations affecting the gene represented in this entry
  • Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal
    control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A
    deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal
    responses to hypercapnia and hypoxemia. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for GDNF (see all 30):    
    About MalaCards
    spinal cord injury    hirschsprung disease type 3    gdnf-related hirschsprung disease    pheochromocytoma, modifier of
    intestinal obstruction    central hypoventilation syndrome    medullary sponge kidney    dry eye syndrome
    neuroma    hirschsprung's disease    sacrococcygeal teratoma    pyloric stenosis
    multiple endocrine neoplasia type 2a    hypertrophic pyloric stenosis    hereditary paraganglioma-pheochromocytoma syndromes    cerebral artery occlusion
    familial medullary thyroid carcinoma    central hypoventilation syndrome, congenital, with or without hirschsprung disease    spinal cord disease    brain ischemia

    7 diseases from the University of Copenhagen DISEASES database for GDNF:
    Parkinson's disease     Hirschsprung's disease     Renal agenesis     Amyotrophic lateral sclerosis
    Toxic encephalopathy     Cerebrovascular accident     Familial medullary thyroid carcinoma

    Find genes that share disorders with GDNF           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GDNF gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 86.1 49 9098026 (5), 9473110 (2), 10859088 (2), 10962905 (2) (see all 31)
    parkinson disease 81.2 215 16644101 (4), 9613719 (4), 16794346 (4), 16876872 (4) (see all 99)
    multiple endocrine neoplasia 77.2 7 10448070 (1), 9284737 (1), 9299438 (1), 9681515 (1) (see all 5)
    men 2a 72.7 22 9299438 (3), 10448070 (2), 9620546 (2), 9681515 (2) (see all 9)
    neurodegenerative diseases 68.9 32 10321971 (2), 19059641 (2), 15023458 (1), 18154038 (1) (see all 18)
    thyroid carcinoma, familial medullary 66.1 1 14715928 (1)
    neurodegeneration 58.1 27 17895431 (2), 15474365 (2), 12235826 (1), 10686085 (1) (see all 21)
    amyotrophic lateral sclerosis 57.4 25 12635522 (2), 10202982 (2), 8929992 (1), 11582516 (1) (see all 15)
    thyroid carcinoma medullary 54.8 1 15753368 (1)
    renal agenesis 54.7 2 20357966 (1), 18252215 (1)

    GeneTests: GDNF
    GeneReviews: GDNF
    Genetic Association Database (GAD): GDNF
    Human Genome Epidemiology (HuGE) Navigator: GDNF (21 documents)

    Export disorders for GDNF 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 GDNF gene, integrated from 10 sources (see all 997):
    (articles sorted by number of sources associating them with GDNF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons. (PubMed id 8493557)1, 2, 3, 9 Lin L.-F.H.... Collins F. (Science 1993)
    2. Multiple astrocyte transcripts encode nigral trophic factors in rat and human. (PubMed id 7867768)1, 2, 9 Schaar D.G.... Black I.B. (Exp. Neurol. 1994)
    3. Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia. (PubMed id 17897812)1, 4, 9 Williams H.J....O'Donovan M.C. (Schizophr. Res. 2007)
    4. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. (PubMed id 19282698)1, 4, 9 Pini Prato A....Jasonni V. (Medicine (Baltimore) 2009)
    5. Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease. (PubMed id 18970938)1, 4, 9 Fernandez R.M....Borrego S. (J. Pediatr. Surg. 2008)
    6. An investigation of the neurotrophic factor genes GDNF, NGF, and NT3 in susceptibility to ADHD. (PubMed id 17192954)1, 4, 9 Syed Z....Kent L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    7. 3' UTR (AGG)n repeat of glial cell line-derived neurotrophic factor (GDNF) gene polymorphism in schizophrenia. (PubMed id 15003293)1, 4, 9 Michelato A....Gennarelli M. (Neurosci. Lett. 2004)
    8. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. (PubMed id 8896569)1, 2, 9 Salomon R....Lyonnet S. (Nat. Genet. 1996)
    9. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. (PubMed id 8896568)1, 2, 9 Angrist M.... Chakravarti A. (Nat. Genet. 1996)
    10. Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn. (PubMed id 19184120)1, 4, 9 Zhang Z....Goodyer P. (Pediatr. Nephrol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2668 HGNC: 4232 AceView: GDNF Ensembl:ENSG00000168621 euGenes: HUgn2668
    ECgene: GDNF H-InvDB: GDNF

    (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 GDNF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GDNF Genetics and Cytogenetics in Oncology and Haematology
    R&D Systems' cytokine mini-reviews: GDNFhttp://www.rndsystems.com/molecule_detail.aspx?m=1510
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GDNF[genesymbol]

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

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



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