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 homo... See more...

Aliases for GDNF Gene

Aliases for GDNF Gene

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

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 Signaling by GPCR. 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 Summary 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 , Rfam classification and piRNA Summary for GDNF Gene

Genomics for GDNF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GDNF Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 286.1 +2.6 2595 8.1 ZNF600 MYC JUND ZNF223 ZNF10 ZSCAN16 ZIC2 ZBTB10 CTCF REST GDNF GDNF-AS1 NUP155 CPLANE1 lnc-GDNF-3 WDR70
GH05J037737 Enhancer 1.1 ENCODE dbSUPER 10.9 +100.4 100380 4.6 JUND ZNF10 NFIC BCL11A CEBPB BHLHE40 FEZF1 ZNF639 ZEB1 NR2C1 CPLANE1 GDNF-AS1 GDNF WDR70 piR-32810-097 HSALNG0041254
GH05J037874 Enhancer 0.8 Ensembl ENCODE 11.6 -35.4 -35362 1.6 JUND ZIC2 FOSL2 BATF MAFK ATF2 JUNB JUN CTCF ATF3 GDNF-AS1 GDNF HSALNG0041257 lnc-WDR70-6 EGFLAM
GH05J037888 Enhancer 0.8 Ensembl ENCODE 11.3 -49.6 -49552 2.5 YY1 FOXA2 RXRA ZBTB33 TCF7L2 USF2 GABPA JUND HNF4A FOXA1 GDNF GDNF-AS1 lnc-WDR70-6 HSALNG0041257 EGFLAM
GH05J037792 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.2 +47.1 47085 1.1 RAD21 JUND FOS CEBPB GDNF RF00017-4130 piR-37725-013 WDR70
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDNF

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

Genomic Locations for GDNF Gene

Latest Assembly
chr5:37,812,677-37,840,044
(GRCh38/hg38)
Size:
27,368 bases
Orientation:
Minus strand

Previous Assembly
chr5:37,812,779-37,840,143
(GRCh37/hg19 by Entrez Gene)
Size:
27,365 bases
Orientation:
Minus strand

chr5:37,812,779-37,839,788
(GRCh37/hg19 by Ensembl)
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 (PubMed:8493557, PubMed:8988018, PubMed:19478429). Interacts with RET (PubMed:21994944). Interacts (via propeptide) with SORL1 (via N-terminal ectodomain); this interaction affects GDNF-regulated, but not constitutive secretion (PubMed:15364913, PubMed:21994944, PubMed:23333276). Also interacts with SORL1 in complex with GFRA1; this interaction leads to GDNF endocytosis and lysosomal degradation (PubMed:23333276).

    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 Asn126 and Asn162
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GDNF Gene

Domains & Families for GDNF Gene

Gene Families for GDNF Gene

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

Protein Domains for GDNF Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature

Suggested Antigen Peptide Sequences for GDNF Gene

GenScript: Design optimal peptide antigens:
  • Astrocyte-derived trophic factor (GDNF_HUMAN)

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

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:0005102 signaling receptor binding TAS 10829012
GO:0005515 protein binding IPI 21994944
GO:0008083 growth factor activity IBA 21873635
GO:0030116 glial cell-derived neurotrophic factor receptor binding IEA --
GO:0030971 receptor tyrosine kinase binding IEA --
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:

miRNA for GDNF Gene

miRTarBase miRNAs that target GDNF

Transcription Factor Targets for GDNF Gene

Selected GeneGlobe predicted Target genes for GDNF

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDNF

Clone products for research

  • 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

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
golgi apparatus 5
plasma membrane 3
cytoskeleton 3
mitochondrion 3
nucleus 3
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 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:0005615 extracellular space IBA 21873635
GO:0005794 Golgi apparatus IDA 21994944
genes like me logo Genes that share ontologies with GDNF: view

Pathways & Interactions for GDNF Gene

PathCards logo

SuperPathways for GDNF Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
.41
.41
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with GDNF: view

Pathways by source for GDNF Gene

2 GeneGo (Thomson Reuters) pathways for GDNF Gene
  • Development GDNF family signaling
  • G-protein signaling_H-RAS regulation pathway
2 Qiagen pathways for GDNF Gene
  • GDNF-Family Ligands and Receptor Interactions
  • PEDF Induced Signaling

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

(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 4133
Chondroitin sulfate Approved, Investigational Nutra Target 0
Paroxetine Approved, Investigational Pharma 265
cyclic amp Experimental Pharma 0
Mitogens Pharma 2309

(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

6 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDNF

Clone products for research

  • 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
GDNF

Expression for GDNF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Muscle(3.1)
  • Heart(2.4)
  • Intestine(2.4)
  • Blood(2.4)
  • Skin(2.3)
  • Eye(2.3)
  • Adrenal gland(2.2)
  • Liver(2.1)

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
Regions:
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 29 30
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GDNF 29 30
  • 91.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GDNF 29 30
  • 90.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gdnf 29 16 30
  • 90 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gdnf 29
  • 88.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia GDNF 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GDNF 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GDNF 29 30
  • 79.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GDNF 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gdnf 29
  • 65.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii gdnfa 29 30
  • 57.42 (n)
OneToOne
gdnf 29
Species where no ortholog for GDNF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GDNF: view image
Alliance of Genome Resources:
Additional Orthologs for GDNF

Paralogs for GDNF Gene

Paralogs for GDNF Gene

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

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

Variants for GDNF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDNF Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
903707 Uncertain Significance: Hirschsprung disease 3 37,814,856(-) G/A
NM_000514.4(GDNF):c.*795C>T
THREE_PRIME_UTR
903708 Uncertain Significance: Hirschsprung disease 3 37,815,034(-) T/C
NM_000514.4(GDNF):c.*617A>G
THREE_PRIME_UTR
903709 Benign: Hirschsprung disease 3 37,815,201(-) G/A
NM_000514.4(GDNF):c.*450C>T
THREE_PRIME_UTR
904776 Likely Benign: Hirschsprung disease 3 37,813,869(-) C/T
NM_000514.4(GDNF):c.*1782G>A
THREE_PRIME_UTR
904777 Uncertain Significance: Hirschsprung disease 3 37,813,952(-) C/G
NM_000514.4(GDNF):c.*1699G>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GDNF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
GDNF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDNF
Leiden Open Variation Database (LOVD)
GDNF

SNP Genotyping and Copy Number Assays for research

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

Disorders for GDNF Gene

MalaCards: The human disease database

(84) MalaCards diseases for GDNF Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hirschsprung disease 3
  • hirschsprung disease, susceptibility to, 3
central hypoventilation syndrome, congenital
  • cchs
pheochromocytoma
  • pheochromocytoma, susceptibility to
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
intestinal obstruction
- 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
  • 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 variants 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 variants 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GDNF: view

No data available for Genatlas for GDNF Gene

Publications for GDNF Gene

  1. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. (PMID: 8896569) Salomon R … Lyonnet S (Nature genetics 1996) 3 4 22 72
  2. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. (PMID: 8896568) Angrist M … Chakravarti A (Nature genetics 1996) 3 4 22 72
  3. 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
  4. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. (PMID: 19282698) Prato AP … Jasonni V (Medicine 2009) 3 22 40
  5. Common variants of the glial cell-derived neurotrophic factor gene do not influence kidney size of the healthy newborn. (PMID: 19184120) Zhang Z … Goodyer P (Pediatric nephrology (Berlin, Germany) 2009) 3 22 40

Products for GDNF Gene

  • Addgene plasmids for GDNF

Sources for GDNF Gene