InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GDNF

Summary

InnateDB Protein

IDBP-473606.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GDNF

Protein Name

glial cell derived neurotrophic factor

Synonyms

ATF1; ATF2; HFB1-GDNF; HSCR3;

Species

Homo sapiens

Ensembl Protein

ENSP00000425928

InnateDB Gene

IDBG-17169 (GDNF)

Protein Structure

UniProt Annotation

Function

Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake. {ECO:0000269PubMed:8493557}.

Subcellular Localization

Secreted {ECO:0000269PubMed:9811930}.

Disease Associations

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

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. {ECO:0000269PubMed:22081608, ECO:0000269PubMed:7867768}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0008083	growth factor activity
GO:0042803	protein homodimerization activity

Biological Process

GO:0001656	metanephros development
GO:0001658	branching involved in ureteric bud morphogenesis
GO:0001755	neural crest cell migration
GO:0007165	signal transduction
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0008344	adult locomotory behavior
GO:0021784	postganglionic parasympathetic nervous system development
GO:0030432	peristalsis
GO:0031175	neuron projection development
GO:0032770	positive regulation of monooxygenase activity
GO:0033603	positive regulation of dopamine secretion
GO:0043066	negative regulation of apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048255	mRNA stabilization
GO:0048484	enteric nervous system development
GO:0048485	sympathetic nervous system development
GO:0051584	regulation of dopamine uptake involved in synaptic transmission
GO:0060688	regulation of morphogenesis of a branching structure
GO:0072107	positive regulation of ureteric bud formation
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand