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

GDNF Gene

protein-coding   GIFtS: 67
GCID: GC05M037812

Glial Cell Derived Neurotrophic Factor

Microbiology & Infectious Diseases Congress
  See related diseases
at  

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n340431      

Export aliases for GDNF gene to outside databases

Previous GC identifers: GC05M037999 GC05M038881 GC05M037815 GC05M037861 GC05M037851 GC05M037765


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for 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, and is affiliated with the lncRNA class. Diseases associated with GDNF include intestinal obstruction, and hirschsprung disease type 3, and among its related super-pathways are Development EGFR signaling pathway and Axon guidance. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GDNF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P39905

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

    GDNF Protein Expression
    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
    Human Recombinant Protein Products for GDNF: 
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    Sino Biological Cell Lysate for GDNF 
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    Cloud-Clone Corp. Proteins for GDNF 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA9811930

    GDNF for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GDNF


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


    GDNF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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: Basal Plate Cells in Mesencephalic Basal Plate, Metanephric Mesenchyme Cells in Metanephric Mesenchyme (see all 3).

    It affects the following cells: Embryonic Dopaminergic Neurons in Substantia Nigra pars Compacta, Embryonic Dopaminergic Neurons in Ventral Tegmental Area (see all 5).

    GDNF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Dopaminergic-like neurons from Brain, Motoneuron-like cells from Spinal Cord (see all).

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS10829012
    GO:0008083growth factor activity NAS--
    GO:0042803protein homodimerization activity IDA8493557
         
    GDNF for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Gdnf):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hematopoietic system  immune system  mortality/aging  muscle 
     nervous system  renal/urinary system  reproductive system 

    GDNF for phenotypes           About GeneDecksing

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

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

    10/386 SABiosciences Target genes for GDNF (see all 386):
    A4GALT AATK ACRBP ACY3 ADAM17 ADAT3 ADRB1 ALOX15 ALPPL2 AMACR

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for 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
    2Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    3NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.62
    NCAM1 interactions0.62
    4PEDF Induced Signaling
    PEDF Induced Signaling0.73
    5G-protein signaling H-RAS regulation pathway
    G-protein signaling H-RAS regulation pathway1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for GDNF
        Development GDNF family signaling
    G-protein signaling H-RAS regulation pathway

    2 Downloadable PowerPoint Slides of QIAGEN 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

    4        Reactome Pathways for GDNF
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance



    GDNF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GDNF

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

    5/34 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): 5/30 biological process terms (GO ID links to tree view) (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--

    GDNF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GDNF for compounds           About GeneDecksing

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

    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--

    10/75 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)

    Search CenterWatch for drugs/clinical trials and news about GDNF

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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:

    AF053748 BC069119 NM_000514 AJ001900 AY052832 AJ001898 AJ001897 NM_199234 
    BC069369 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GDNF expression in normal human tissues (normalized intensities)      GDNF embryonic expression: see
    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 
     5/26 selected tissues (see all 26) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum   
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
             mK4
             Renal progenitor cells (Metanephric Mesenchyme-like cells) ( Stepwise renal lineage...
             renal vesicle e12.5   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Node Cells Atrioventricular Node
             heart muscle ; myocytes   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
             skeletal muscle ; myocytes   

    See GDNF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GDNF

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GDNF gene from 4/10 species (see all 10)    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 78.94(n)
    77.27(a)
      395569  XM_425018.3  XP_425018.3 
    lizard
    (Anolis carolinensis)
    Reptilia GDNF6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343241.1(752895-778070)
    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)
    About This Section
    Paralogs for GDNF gene
    PSPN2  ARTN2  NRTN2  
    1 SIMAP similar gene for GDNF using alignment to 1 protein entry:     GDNF_HUMAN:
    NRTN

    GDNF for paralogs           About GeneDecksing



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

    10/530 SNPs in GDNF are shown (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
    VAR_0094944
    ----see VAR_0094942 P S mis40--------
    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

    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/122 diseases for GDNF (see all 122):    About MalaCards
    intestinal obstruction    hirschsprung disease type 3    spinal cord disease    pheochromocytoma, modifier of
    neuroma    medullary sponge kidney    hirschsprung's disease    familial medullary thyroid carcinoma
    sacrococcygeal teratoma    meningitis and encephalitis    gdnf-related hirschsprung disease    multiple endocrine neoplasia type 2a
    spinal cord ischemia    pyloric stenosis    hypertrophic pyloric stenosis    cerebral artery occlusion
    chronic inflammatory demyelinating polyneuropathy    brain ischemia    renal agenesis    dry eye syndrome

    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

    GDNF for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 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)
    About This Section

    PubMed articles for GDNF gene, integrated from 9 sources (see all 996):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2668 HGNC: 4232 AceView: GDNF Ensembl:ENSG00000168621 euGenes: HUgn2668
    ECgene: GDNF H-InvDB: GDNF

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/sites/GeneTests/lab/gene/GDNF

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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