Entity Details

Primary name GDNF
Entity type gene
Source Source Link

Details

PrimaryID2668
RefseqGeneNG_011675
SymbolGDNF
Nameglial cell derived neurotrophic factor
Chromosome5
Location5p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGDNF_HUMAN

GO terms

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GOName
GO:0000165 MAPK cascade
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001755 neural crest cell migration
GO:0001759 organ induction
GO:0001941 postsynaptic membrane organization
GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0007422 peripheral nervous system development
GO:0008083 growth factor activity
GO:0008284 positive regulation of cell population proliferation
GO:0008344 adult locomotory behavior
GO:0010468 regulation of gene expression
GO:0021516 dorsal spinal cord development
GO:0021784 postganglionic parasympathetic fiber development
GO:0030116 glial cell-derived neurotrophic factor receptor binding
GO:0030432 peristalsis
GO:0030971 receptor tyrosine kinase binding
GO:0031175 neuron projection development
GO:0032770 positive regulation of monooxygenase activity
GO:0033603 positive regulation of dopamine secretion
GO:0042803 protein homodimerization activity
GO:0043066 negative regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0045597 positive regulation of cell differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048255 mRNA stabilization
GO:0048484 enteric nervous system development
GO:0048485 sympathetic nervous system development
GO:0048568 embryonic organ development
GO:0051584 regulation of dopamine uptake involved in synaptic transmission
GO:0060676 ureteric bud formation
GO:0060688 regulation of morphogenesis of a branching structure
GO:0071679 commissural neuron axon guidance
GO:0072107 positive regulation of ureteric bud formation
GO:0072108 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:1902379 chemoattractant activity involved in axon guidance
GO:2000736 regulation of stem cell differentiation
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
GO:2001260 regulation of semaphorin-plexin signaling pathway

Diseases

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Disease IDSourceNameDescription
209880 OMIMCongenital central hypoventilation syndrome (CCHS)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. The disease is caused by variants affecting the gene represented in this entry.
171300 OMIMPheochromocytoma (PCC)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. The gene represented in this entry may act as a disease modifier.
613711 OMIMHirschsprung disease 3 (HSCR3)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.