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GDNF glial cell derived neurotrophic factor [ Homo sapiens (human) ]

Gene ID: 2668, updated on 10-Oct-2020

Summary

Official Symbol
GDNFprovided by HGNC
Official Full Name
glial cell derived neurotrophic factorprovided by HGNC
Primary source
HGNC:HGNC:4232
See related
Ensembl:ENSG00000168621 MIM:600837
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATF; ATF1; ATF2; HSCR3; HFB1-GDNF
Summary
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]
Expression
Broad expression in placenta (RPKM 1.7), ovary (RPKM 1.5) and 18 other tissues See more
Orthologs

Genomic context

See GDNF in Genome Data Viewer
Location:
5p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (37812677..37840044, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (37812779..37839782, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 70 Neighboring gene RNA, U6 small nuclear 1190, pseudogene Neighboring gene RNA, U6 small nuclear 484, pseudogene Neighboring gene GDNF antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2117 Neighboring gene long intergenic non-protein coding RNA 2110

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemoattractant activity involved in axon guidance TAS
Traceable Author Statement
more info
PubMed 
glial cell-derived neurotrophic factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
receptor tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
adult locomotory behavior TAS
Traceable Author Statement
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
chemoattraction of axon IEA
Inferred from Electronic Annotation
more info
 
commissural neuron axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
dorsal spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic organ development ISS
Inferred from Sequence or Structural Similarity
more info
 
enteric nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA stabilization IDA
Inferred from Direct Assay
more info
PubMed 
mesenchymal to epithelial transition involved in metanephros morphogenesis IEA
Inferred from Electronic Annotation
more info
 
metanephros development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neural crest cell migration IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development TAS
Traceable Author Statement
more info
PubMed 
organ induction IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peristalsis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of branching involved in ureteric bud morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of branching involved in ureteric bud morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of dopamine secretion TAS
Traceable Author Statement
more info
PubMed 
positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ureteric bud formation IDA
Inferred from Direct Assay
more info
PubMed 
postganglionic parasympathetic fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic membrane organization IEA
Inferred from Electronic Annotation
more info
 
regulation of dopamine uptake involved in synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of morphogenesis of a branching structure ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of semaphorin-plexin signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of stem cell differentiation TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
ureteric bud formation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
glial cell line-derived neurotrophic factor
Names
astrocyte-derived trophic factor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011675.2 RefSeqGene

    Range
    4640..32004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000514.4NP_000505.1  glial cell line-derived neurotrophic factor isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000505.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, represents use of an alternate promoter, and uses a downstream start codon, compared to variant 3. The resulting isoform (1) has a shorter N-terminus, compared to isoform 3.
    Source sequence(s)
    AC008869, AF053748, AY052832
    Consensus CDS
    CCDS3922.1
    UniProtKB/Swiss-Prot
    P39905
    UniProtKB/TrEMBL
    A0A0S2Z3V2
    Related
    ENSP00000317145.2, ENST00000326524.7
    Conserved Domains (1) summary
    cd19380
    Location:115210
    TGF_beta_GDNF; transforming growth factor beta (TGF-beta) like domain found in glial cell line-derived neurotrophic factor (GDNF) and similar proteins
  2. NM_001190468.1NP_001177397.1  glial cell line-derived neurotrophic factor isoform 3

    See identical proteins and their annotated locations for NP_001177397.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC008869, AJ001897
    Consensus CDS
    CCDS54845.1
    UniProtKB/Swiss-Prot
    P39905
    Related
    ENSP00000409007.1, ENST00000427982.5
    Conserved Domains (1) summary
    pfam00019
    Location:135227
    TGF_beta; Transforming growth factor beta like domain
  3. NM_001190469.1NP_001177398.1  glial cell line-derived neurotrophic factor isoform 4 precursor

    See identical proteins and their annotated locations for NP_001177398.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region, compared to variant 3. The resulting isoform (4) lacks an internal segment, compared to isoform 3.
    Source sequence(s)
    AC008869, AJ001898
    Consensus CDS
    CCDS54846.1
    UniProtKB/Swiss-Prot
    P39905
    Related
    ENSP00000371248.4, ENST00000381826.8
    Conserved Domains (1) summary
    pfam00019
    Location:109201
    TGF_beta; Transforming growth factor beta like domain
  4. NM_001278098.1NP_001265027.1  glial cell line-derived neurotrophic factor isoform 5

    See identical proteins and their annotated locations for NP_001265027.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has a unique internal exon, which causes translation initiation at a downstream AUG, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC008869, AJ001900, DQ235474
    Consensus CDS
    CCDS75237.1
    UniProtKB/Swiss-Prot
    P39905
    Related
    ENSP00000478722.1, ENST00000620847.1
    Conserved Domains (1) summary
    pfam00019
    Location:66158
    TGF_beta; Transforming growth factor beta like domain
  5. NM_199231.2NP_954701.1  glial cell line-derived neurotrophic factor isoform 2 precursor

    See identical proteins and their annotated locations for NP_954701.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, represents use of an alternate promoter, uses a downstream start codon, and uses an alternate in-frame splice site in the coding region, compared to variant 3. The resulting isoform (2) has a shorter N-terminus and lacks an internal segment, compared to isoform 3.
    Source sequence(s)
    AC008869, AJ001899, AY052832
    Consensus CDS
    CCDS3923.1
    UniProtKB/Swiss-Prot
    P39905
    UniProtKB/TrEMBL
    A0A0S2Z3T2
    Related
    ENSP00000339703.4, ENST00000344622.8
    Conserved Domains (1) summary
    cd19380
    Location:89184
    TGF_beta_GDNF; transforming growth factor beta (TGF-beta) like domain found in glial cell line-derived neurotrophic factor (GDNF) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    37812677..37840044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009337.2XP_016864826.1  glial cell line-derived neurotrophic factor isoform X1

    UniProtKB/Swiss-Prot
    P39905
    UniProtKB/TrEMBL
    A0A0S2Z3T2
    Related
    ENSP00000425928.1, ENST00000515058.5
    Conserved Domains (1) summary
    cd19380
    Location:89184
    TGF_beta_GDNF; transforming growth factor beta (TGF-beta) like domain found in glial cell line-derived neurotrophic factor (GDNF) and similar proteins
  2. XM_011514030.3XP_011512332.1  glial cell line-derived neurotrophic factor isoform X2

    See identical proteins and their annotated locations for XP_011512332.1

    UniProtKB/Swiss-Prot
    P39905
    Conserved Domains (1) summary
    pfam00019
    Location:66158
    TGF_beta; Transforming growth factor beta like domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199234.1: Suppressed sequence

    Description
    NM_199234.1: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.
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