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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 3
  • 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 secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, 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. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]

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 RET signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is NRTN.

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

Additional gene information for GDNF Gene

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

Genomics for GDNF Gene

GeneHancer (GH) Regulatory Elements for GDNF Gene

Promoters and enhancers for GDNF Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J037833 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 686.2 +2.2 2180 8 FEZF1 GLI4 ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 FOS SP3 REST GDNF NUP155 GC05M037817 GDNF-AS1
GH05J037737 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 +100.0 100022 4.6 PKNOX1 SMAD1 FEZF1 IRF4 ZNF213 ATF7 FOS RUNX3 JUNB TSHZ1 CPLANE1 GDNF-AS1 GDNF WDR70 GC05M037700 RNU6-484P
GH05J037769 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +67.8 67774 4.2 FOXA2 MAX CEBPG ZNF644 RAD21 RARA YY1 EGR1 POLR2A HNF4G GDNF GDNF-AS1 RNU6-484P GC05M037700
GH05J037874 Enhancer 0.6 ENCODE 11.5 -35.7 -35720 1.6 CTCF JUNB BATF ZIC2 ATF2 JUND EED FOS ATF7 IKZF2 GDNF-AS1 GDNF LINC02117
GH05J037888 Enhancer 0.6 ENCODE 11.3 -49.9 -49910 2.5 FOXA2 RXRA CEBPB USF2 MAX GABPA FOXA1 YY1 SP1 JUND GDNF GDNF-AS1 LINC02117
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDNF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDNF gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for GDNF Gene

Genomic Locations for GDNF Gene
27,010 bases
Minus strand
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

Post-translational modifications for GDNF Gene

  • Glycosylation at isoforms=2, 3, 4, 5162 and Asn126
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GDNF

No data available for DME Specific Peptides for GDNF Gene

Domains & Families for GDNF Gene

Gene Families for GDNF Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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.
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

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:

Phenotypes From GWAS Catalog for GDNF Gene

Gene Ontology (GO) - Molecular Function for GDNF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 signaling receptor binding TAS 10829012
GO:0005515 protein binding IPI 25416956
GO:0008083 growth factor activity IEA --
GO:0042803 protein homodimerization activity IDA 8493557
genes like me logo Genes that share ontologies with GDNF: view
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

miRNA for GDNF Gene

miRTarBase miRNAs that target GDNF

Transcription Factor Targets for GDNF Gene

Selected GeneGlobe predicted Target genes for GDNF

Clone Products

  • Addgene plasmids for GDNF

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for GDNF Gene

Localization for GDNF Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDNF Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDNF gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GDNF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with GDNF: view

Pathways & Interactions for GDNF Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with GDNF: view

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:0001658 branching involved in ureteric bud morphogenesis ISS --
GO:0001755 neural crest cell migration IDA 15242795
genes like me logo Genes that share ontologies with GDNF: view

Drugs & Compounds for GDNF Gene

(45) 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 4008
Chondroitin sulfate Approved, Investigational Nutra Target 0
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 236
cyclic amp Experimental Pharma 0
Dopamine Agents Pharma 4008

(33) 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

(8) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDNF Gene

Glial cell derived neurotrophic factor:
Representative Sequences:

Clone Products

  • Addgene plasmids for GDNF

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for GDNF Gene

Protein tissue co-expression partners for GDNF Gene

NURSA nuclear receptor signaling pathways regulating expression of GDNF Gene:


SOURCE GeneReport for Unigene cluster for GDNF Gene:


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.

Evidence on tissue expression from TISSUES for GDNF Gene

  • Nervous system(4.8)
  • Kidney(4.4)
  • Muscle(2.8)
  • Eye(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDNF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • outer ear
  • diaphragm
  • esophagus
  • heart
  • lung
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
  • rectum
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with GDNF: view

Orthologs for GDNF Gene

This gene was present in the common ancestor of chordates.

Orthologs for GDNF Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GDNF 34 33
  • 100 (n)
(Bos Taurus)
Mammalia GDNF 34 33
  • 91.63 (n)
(Canis familiaris)
Mammalia GDNF 34 33
  • 90.21 (n)
(Mus musculus)
Mammalia Gdnf 16 34 33
  • 90 (n)
(Rattus norvegicus)
Mammalia Gdnf 33
  • 88.78 (n)
(Monodelphis domestica)
Mammalia GDNF 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia GDNF 34
  • 72 (a)
(Gallus gallus)
Aves GDNF 34 33
  • 79.78 (n)
(Anolis carolinensis)
Reptilia GDNF 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdnf 33
  • 65.71 (n)
(Danio rerio)
Actinopterygii gdnfa 34 33
  • 57.42 (n)
gdnf 33
Species where no ortholog for GDNF was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for GDNF: view image

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 Variation AA Info Type
rs1021780779 uncertain-significance, Hirschsprung Disease, Dominant 37,813,592(-) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1022672425 uncertain-significance, Hirschsprung Disease, Dominant 37,814,117(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs104893891 risk-factor, Hirschsprung disease 3, Hirschsprung disease 3 (HSCR3) [MIM:613711] 37,815,827(-) T/A coding_sequence_variant, missense_variant
rs11111 likely-benign, Hirschsprung Disease, Dominant 37,814,000(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs115322727 likely-benign, Hirschsprung Disease, Dominant 37,813,866(-) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1593e212 CNV loss 25503493
dgv9728n54 CNV loss 21841781
esv26026 CNV loss 19812545
esv3604748 CNV gain 21293372
esv3604751 CNV loss 21293372
nsv597846 CNV gain 21841781
nsv597849 CNV gain 21841781
nsv597850 CNV gain 21841781

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)

Additional Variant Information for GDNF Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for GDNF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hirschsprung disease 3
  • hirschsprung disease, susceptibility to, 3
central hypoventilation syndrome, congenital
  • cchs
  • pheochromocytoma, susceptibility to
intestinal obstruction
spinal cord injury
  • spinal cord injuries
- elite association - COSMIC cancer census association via MalaCards
Search GDNF in MalaCards View complete list of genes associated with diseases


  • 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=Disease susceptibility is associated with variations 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. {ECO:0000269 PubMed:9497256}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:9215674}. Note=The gene represented in this entry may act as a disease modifier.

Additional Disease Information for GDNF

Genetic Association Database
Human Genome Epidemiology 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 LF … Collins F (Science (New York, N.Y.) 1993) 2 3 4 22 58
  2. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PMID: 18081024) Laurin N … Barr CL (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 44 58
  3. Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia. (PMID: 17897812) Williams HJ … O'Donovan MC (Schizophrenia research 2007) 3 22 44 58
  4. Glial cell line-derived neurotrophic factor (GDNF) gene and schizophrenia: polymorphism screening and association analysis. (PMID: 11600185) Lee K … Nanko S (Psychiatry research 2001) 3 22 44 58
  5. Multiple astrocyte transcripts encode nigral trophic factors in rat and human. (PMID: 7867768) Schaar DG … Black IB (Experimental neurology 1994) 3 4 22 58

Products for GDNF Gene

Sources for GDNF Gene

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