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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 Cell Line-Derived Neurotrophic Factor 3
  • 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 Innate Immune System. 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

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G037833 1.6 FANTOM5 Ensembl ENCODE 36.1 +2.2 2181 8.0 SIN3A FEZF1 GLI4 ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 FOS ZNF263 GDNF C5orf42 OFD1P17 GC05M037817
GH05G037737 1.5 Ensembl ENCODE dbSUPER 10.9 +100.0 100023 4.6 PKNOX1 SIN3A FEZF1 FOS JUNB TSHZ1 ZNF623 TBX21 MYNN NBN C5orf42 GDNF-AS1 GDNF WDR70 GC05M037700 RNU6-484P
GH05G037769 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +67.8 67774 4.2 SIN3A MAX CEBPG ZNF644 RAD21 YY1 RARA POLR2A HNF4G FOS GDNF GDNF-AS1 GC05M037700 RNU6-484P
GH05G037792 0.8 ENCODE dbSUPER 11.1 +46.7 46712 1.0 CTCF JUND CEBPG FOS GDNF GDNF-AS1 RNU6-484P GC05M037700
GH05G037874 0.7 ENCODE 11.5 -35.7 -35720 1.6 CTCF JUNB ZIC2 ATF2 JUND ATF3 EED FOS FOXP2 MAFK GDNF-AS1 GDNF LINC02117
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000314541 -314 801 SIN3A GLI4 ZNF2 ZNF48 ZNF121 GLIS2 ZNF263 SP3 MXD4 REST
ENSR00000314543 586 201 SUZ12 ZNF524 CBX2 RBBP5 EZH2
ENSR00000314542 1986 201 CTCF MXI1 CBX3 SUZ12 MAX RAD21 EGR1 ZNF143 SMC3 ZSCAN29

Genomic Location for GDNF Gene

Chromosome:
5
Start:
37,812,677 bp from pter
End:
37,839,686 bp from pter
Size:
27,010 bases
Orientation:
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:
    P39905-GDNF_HUMAN
    Recommended name:
    Glial cell line-derived neurotrophic factor
    Protein Accession:
    P39905
    Secondary Accessions:
    • B7WPK7
    • O95448
    • O95449
    • O95986
    • Q6FH33
    • Q96L44
    • Q9UD32
    • Q9UD33
    • Q9UMV2
    • Q9UP67
    • Q9UP97

    Protein attributes for GDNF Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GDNF Gene

Post-translational modifications for GDNF Gene

  • Glycosylation at isoforms=2, 3, 4, 5126 and isoforms=2, 3, 4, 5162
  • 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

P39905

UniProtKB/Swiss-Prot:

GDNF_HUMAN :
  • Belongs to the TGF-beta family. GDNF subfamily.
Family:
  • 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:

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 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

CRISPR Products

Transcription Factor Targets for GDNF Gene

Selected GeneGlobe predicted Target genes for GDNF

Inhibitory RNA Products

Flow Cytometry Products

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

Secreted.

Subcellular locations from

COMPARTMENTS
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

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

Activates:

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

(44) 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 3836
Paroxetine Approved, Investigational Pharma Inhibition, Inhibitor 228
cyclic amp Experimental Pharma 0
AV411 Investigational Pharma Target 0
Dopamine Agents Pharma 3836

(34) 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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
GDNF
ECgene alternative splicing isoforms for
GDNF

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, PaxDb, and MOPED for GDNF Gene



Protein tissue co-expression partners for GDNF Gene

NURSA nuclear receptor signaling pathways regulating expression of GDNF Gene:

GDNF

SOURCE GeneReport for Unigene cluster for GDNF Gene:

Hs.248114

mRNA Expression by UniProt/SwissProt for GDNF Gene:

P39905-GDNF_HUMAN
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(4.7)
  • 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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • outer ear
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • rectum
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia GDNF 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia GDNF 34 35
  • 91.63 (n)
dog
(Canis familiaris)
Mammalia GDNF 34 35
  • 90.21 (n)
mouse
(Mus musculus)
Mammalia Gdnf 34 16 35
  • 90 (n)
rat
(Rattus norvegicus)
Mammalia Gdnf 34
  • 88.78 (n)
oppossum
(Monodelphis domestica)
Mammalia GDNF 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GDNF 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves GDNF 34 35
  • 79.78 (n)
lizard
(Anolis carolinensis)
Reptilia GDNF 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdnf 34
  • 65.71 (n)
zebrafish
(Danio rerio)
Actinopterygii gdnfa 34 35
  • 57.42 (n)
gdnf 34
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

ENSEMBL:
Gene Tree for GDNF (if available)
TreeFam:
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
rs104893891 other, Hirschsprung disease 3 (HSCR3) [MIM:613711] 37,815,827(-) CTGAG(A/T)CAACG reference, missense
rs121918536 other, Hirschsprung disease 3 (HSCR3) [MIM:613711] 37,815,654(-) TGTAT(C/G)TGACT reference, missense
rs36119840 Pathogenic, Pheochromocytoma (PCC) [MIM:171300], Congenital central hypoventilation syndrome (CCHS) [MIM:209880], Hirschsprung disease 3 (HSCR3) [MIM:613711] 37,816,010(+) CTGCC(A/G)ATTCC reference, missense
rs76466003 other, Hirschsprung disease 3 (HSCR3) [MIM:613711] 37,815,839(-) CTTGC(A/G)ATGCA reference, missense
rs777451569 Uncertain significance, Hirschsprung disease 3 (HSCR3) [MIM:613711] 37,834,736(+) CAGCG(A/G)GAAGG intron-variant, reference, missense, utr-variant-5-prime

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)

Relevant External Links for GDNF Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hirschsprung disease 3
  • hirschsprung disease type 3
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
pheochromocytoma
  • pheochromocytoma, modifier of
gdnf-related hirschsprung disease
medullary sponge kidney
  • cacchi ricci disease
- elite association - COSMIC cancer census association via MalaCards
Search GDNF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDNF_HUMAN
  • 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=Disease susceptibility is associated with variations 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.

Relevant External Links for GDNF

Genetic Association Database (GAD)
GDNF
Human Genome Epidemiology (HuGE) Navigator
GDNF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDNF
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 22 64
  2. 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 22 46 64
  3. Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia. (PMID: 17897812) Williams H.J. … O'Donovan M.C. (Schizophr. Res. 2007) 3 22 46 64
  4. Glial cell line-derived neurotrophic factor (GDNF) gene and schizophrenia: polymorphism screening and association analysis. (PMID: 11600185) Lee K. … Nanko S. (Psychiatry Res 2001) 3 22 46 64
  5. Multiple astrocyte transcripts encode nigral trophic factors in rat and human. (PMID: 7867768) Schaar D.G. … Black I.B. (Exp. Neurol. 1994) 3 4 22 64

Products for GDNF Gene

Sources for GDNF Gene

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