Gene Gene information from NCBI Gene database.
Entrez ID 2668
Gene name Glial cell derived neurotrophic factor
Gene symbol GDNF
Synonyms (NCBI Gene)
ATFATF1ATF2HFB1-GDNFHSCR3
Chromosome 5
Chromosome location 5p13.2
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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs36119840 G>A Pathogenic, risk-factor, likely-benign Coding sequence variant, missense variant
rs104893891 T>A,C Risk-factor Coding sequence variant, missense variant
rs121918536 G>C Risk-factor Coding sequence variant, missense variant
rs375385439 C>A,T Conflicting-interpretations-of-pathogenicity Intron variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
215
miRTarBase ID miRNA Experiments Reference
MIRT019438 hsa-miR-148b-3p Microarray 17612493
MIRT022032 hsa-miR-128-3p Microarray 17612493
MIRT025911 hsa-miR-7-5p Microarray 17612493
MIRT630717 hsa-miR-3129-3p HITS-CLIP 23824327
MIRT630716 hsa-miR-5583-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
EGR1 Unknown 9729303
NFKB1 Unknown 9729303
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
GO ID Ontology Definition Evidence Reference
GO:0001656 Process Metanephros development IEA
GO:0001656 Process Metanephros development ISS
GO:0001657 Process Ureteric bud development IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0001658 Process Branching involved in ureteric bud morphogenesis ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600837 4232 ENSG00000168621
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P39905
Protein name Glial cell line-derived neurotrophic factor (hGDNF) (Astrocyte-derived trophic factor) (ATF)
Protein function Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and
PDB 2V5E , 3FUB , 4UX8 , 6Q2N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00019 TGF_beta 117 210 Transforming growth factor beta like domain Domain
Tissue specificity 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
Sequence
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQ
FDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVL
TAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCR
PIAFDDDLSFLDDNLVYHILRKHSAKRCGC
I
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
  RAF/MAP kinase cascade
RET signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 19937367
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 25137025, 30975543
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30335884
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28916425
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 21484932, 22510762, 28930752, 29434341
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 25990369
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 10998441, 12139916, 19551609, 22751117, 9215674
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma CTD_human_DG 19138852
★☆☆☆☆
Found in Text Mining only