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Aliases for GDNF Gene

Aliases for GDNF Gene

  • Glial Cell Derived Neurotrophic Factor 2 3 5
  • Astrocyte-Derived Trophic Factor 2 3 4
  • ATF 3 4
  • Glial Cell Line Derived Neurotrophic Factor 2
  • Glial Derived Neurotrophic Factor 2
  • HFB1-GDNF 3
  • HSCR3 3
  • HGDNF 4
  • ATF1 3
  • ATF2 3

External Ids for GDNF Gene

Previous GeneCards Identifiers for GDNF Gene

  • GC05M037999
  • GC05M038881
  • GC05M037815
  • GC05M037861
  • GC05M037851
  • GC05M037765

Summaries for GDNF Gene

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 Hirschsprung Disease 3 and Central Hypoventilation Syndrome, Congenital. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and PEDF Induced Signaling. GO annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is PSPN.

UniProtKB/Swiss-Prot for GDNF Gene

  • Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.

Gene Wiki entry for GDNF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDNF Gene

Genomics for GDNF Gene

Regulatory Elements for GDNF Gene

Enhancers for GDNF Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GDNF on UCSC Golden Path with GeneCards custom track

Promoters for GDNF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GDNF on UCSC Golden Path with GeneCards custom track

Genomic Location for GDNF Gene

37,812,677 bp from pter
37,839,686 bp from pter
27,010 bases
Minus strand

Genomic View for GDNF Gene

Genes around GDNF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDNF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDNF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDNF Gene

Proteins for GDNF Gene

  • Protein details for GDNF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glial cell line-derived neurotrophic factor
    Protein Accession:
    Secondary Accessions:
    • B7WPK7
    • O95448
    • O95449
    • O95986
    • Q6FH33
    • Q96L44
    • Q9UD32
    • Q9UD33
    • Q9UMV2
    • Q9UP67
    • Q9UP97

    Protein attributes for GDNF Gene

    211 amino acids
    Molecular mass:
    23720 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Three dimensional structures from OCA and Proteopedia for GDNF Gene

    Alternative splice isoforms for GDNF Gene


neXtProt entry for GDNF Gene

Proteomics data for GDNF Gene at MOPED

Post-translational modifications for GDNF Gene

  • Glycosylation at Asn 126 and Asn 162
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for GDNF Gene

Domains & Families for GDNF Gene

Gene Families for GDNF Gene

Suggested Antigen Peptide Sequences for GDNF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TGF-beta family. GDNF subfamily.
  • Belongs to the TGF-beta family. GDNF subfamily.
genes like me logo Genes that share domains with GDNF: view

Function for GDNF Gene

Molecular function for GDNF Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
UniProtKB/Swiss-Prot Induction:
By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and FGF2.

LifeMap Function Summary for GDNF Gene

During embryonic development, GDNF as signaling molecule is secreted from the following cells
GDNF as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
genes like me logo Genes that share phenotypes with GDNF: view

Human Phenotype Ontology for GDNF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDNF Gene

MGI Knock Outs for GDNF:

Animal Model Products

Transcription Factor Targets for GDNF Gene

Selected GeneGlobe predicted Target genes for GDNF

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function and HOMER Transcription for GDNF Gene

Localization for GDNF Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDNF Gene


Subcellular locations from

Jensen Localization Image for GDNF Gene COMPARTMENTS Subcellular localization image for GDNF gene
Compartment Confidence
extracellular 5
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GDNF Gene

Pathways & Interactions for GDNF Gene

SuperPathways for GDNF Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 GDNF-Family Ligands and Receptor Interactions
3 Developmental Biology
4 Immune System
5 Signaling by GPCR
genes like me logo Genes that share pathways with GDNF: view

Pathways by source for GDNF Gene

SIGNOR curated interactions for GDNF Gene


Gene Ontology (GO) - Biological Process for GDNF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001656 metanephros development ISS --
GO:0001657 ureteric bud development IEA --
GO:0001759 organ induction IEA --
GO:0001941 postsynaptic membrane organization IEA --
genes like me logo Genes that share ontologies with GDNF: view

Drugs & Compounds for GDNF Gene

(41) Drugs for GDNF Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist 3636
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 221
cyclic amp Experimental Pharma 0
AV411 Investigational Pharma Target 0
Dopamine Agents Pharma 3636

(37) Additional Compounds for GDNF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GDNF: view

Transcripts for GDNF Gene

mRNA/cDNA for GDNF Gene

Unigene Clusters for GDNF Gene

Glial cell derived neurotrophic factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GDNF Gene

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

Relevant External Links for GDNF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GDNF Gene

mRNA expression in normal human tissues for GDNF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDNF Gene

This gene is overexpressed in Muscle - Skeletal (x9.5) and Colon - Sigmoid (x7.4).

Protein differential expression in normal tissues from HIPED for GDNF Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GDNF Gene

SOURCE GeneReport for Unigene cluster for GDNF Gene Hs.248114

mRNA Expression by UniProt/SwissProt for GDNF Gene

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.
genes like me logo Genes that share expression patterns with GDNF: view

Protein tissue co-expression partners for GDNF Gene

Orthologs for GDNF Gene

This gene was present in the common ancestor of chordates.

Orthologs for GDNF Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GDNF 35
  • 91.63 (n)
  • 94.31 (a)
  • 92 (a)
(Canis familiaris)
Mammalia GDNF 35
  • 90.21 (n)
  • 91 (a)
  • 89 (a)
(Mus musculus)
Mammalia Gdnf 35
  • 90 (n)
  • 92.73 (a)
Gdnf 16
Gdnf 36
  • 83 (a)
(Pan troglodytes)
Mammalia GDNF 35
  • 100 (n)
  • 100 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Gdnf 35
  • 88.78 (n)
  • 92.89 (a)
(Monodelphis domestica)
Mammalia GDNF 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia GDNF 36
  • 72 (a)
(Gallus gallus)
Aves GDNF 35
  • 79.78 (n)
  • 78.2 (a)
  • 71 (a)
(Anolis carolinensis)
Reptilia GDNF 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdnf 35
  • 65.71 (n)
  • 65.07 (a)
(Danio rerio)
Actinopterygii gdnf 35
gdnfa 35
  • 57.42 (n)
  • 54.11 (a)
gdnfa 36
  • 45 (a)
Species with no ortholog for GDNF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDNF Gene

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

Paralogs for GDNF Gene

Paralogs for GDNF Gene

(1) SIMAP similar genes for GDNF Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GDNF: view

Variants for GDNF Gene

Sequence variations from dbSNP and Humsavar for GDNF Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_009494 -
rs36119840 - 37,816,010(+) CTGCC(A/G)ATTCC reference, missense
rs76466003 - 37,815,839(-) CTTGC(A/G)ATGCA reference, missense
VAR_009497 Hirschsprung disease 3 (HSCR3)
VAR_018152 Hirschsprung disease 3 (HSCR3)

Structural Variations from Database of Genomic Variants (DGV) for GDNF Gene

Variant ID Type Subtype PubMed ID
esv26026 CNV Loss 19812545

Variation tolerance for GDNF Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDNF Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDNF Gene

Disorders for GDNF Gene

MalaCards: The human disease database

(39) MalaCards diseases for GDNF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hirschsprung disease 3
  • hirschsprung disease, susceptibility to, 3
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
  • pheochromocytoma, modifier of
gdnf-related hirschsprung disease
intestinal obstruction
- elite association - COSMIC cancer census association via MalaCards
Search GDNF in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:9497256}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10917288, ECO:0000269 PubMed:8896568, ECO:0000269 PubMed:8896569, ECO:0000269 PubMed:8968758}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for GDNF

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GDNF: view

No data available for Genatlas for GDNF Gene

Publications for GDNF Gene

  1. GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons. (PMID: 8493557) Lin L.-F.H. … Collins F. (Science 1993) 2 3 4 23 67
  2. Glial cell line-derived neurotrophic factor (GDNF) and its receptors in human ovaries from fetuses, girls, and women. (PMID: 19896648) Farhi J. … Abir R. (Fertil. Steril. 2010) 3 23
  3. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PMID: 18081024) Laurin N. … Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 23
  4. Expression patterns of the glial cell line-derived neurotrophic factor, neurturin, their cognate receptors GFRalpha-1, GFRalpha-2, and a common signal transduction element c-Ret in the human skin hair follicles. (PMID: 18222320) Adly M.A. … Paus R. (J. Am. Acad. Dermatol. 2008) 3 23
  5. Glial cell line-derived neurotrophic factor reverses ethanol-mediated increases in tyrosine hydroxylase immunoreactivity via altering the activity of heat shock protein 90. (PMID: 18343820) He D.Y. … Ron D. (J. Biol. Chem. 2008) 3 23

Products for GDNF Gene

Sources for GDNF Gene