Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2674
Gene name Gene Name - the full gene name approved by the HGNC.
GDNF family receptor alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GFRA1
Synonyms (NCBI Gene) Gene synonyms aliases
GDNFR, GDNFR-alpha-1, GDNFRA, GFR-ALPHA-1, GFRalpha-1, RET1L, RETL1, RHDA4, TRNR1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) a
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019251 hsa-miR-148b-3p Microarray 17612493
MIRT025678 hsa-miR-7-5p Microarray 17612493
MIRT606943 hsa-miR-4504 HITS-CLIP 23313552
MIRT606942 hsa-miR-542-3p HITS-CLIP 23313552
MIRT606941 hsa-miR-6867-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0005030 Function Neurotrophin receptor activity IEA
GO:0005102 Function Signaling receptor binding TAS 9545641
GO:0005178 Function Integrin binding IEA
GO:0005515 Function Protein binding IPI 23333276
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601496 4243 ENSG00000151892
Protein
UniProt ID P56159
Protein name GDNF family receptor alpha-1 (GDNF receptor alpha-1) (GDNFR-alpha-1) (GFR-alpha-1) (RET ligand 1) (TGF-beta-related neurotrophic factor receptor 1)
Protein function Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:31535977). GDNF-binding leads to autophosphory
PDB 6Q2N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02351 GDNF 29 110 GDNF/GAS1 domain Domain
PF02351 GDNF 154 233 GDNF/GAS1 domain Domain
PF02351 GDNF 243 337 GDNF/GAS1 domain Domain
Sequence
MFLATLYFALPLLDLLLSAEVSGGDRLDCVKASDQCLKEQSCSTKYRTLRQCVAGKETNF
SLASGLEAKDECRSAMEALKQKSLYNCRCKRGMKKEKNCLRIYWSMYQSL
QGNDLLEDSP
YEPVNSRLSDIFRVVPFISDVFQQVEHIPKGNNCLDAAKACNLDDICKKYRSAYITPCTT
SVSNDVCNRRKCHKALRQFFDKVPAKHSYGMLFCSCRDIACTERRRQTIVPVC
SYEEREK
PNCLNLQDSCKTNYICRSRLADFFTNCQPESRSVSSCLKENYADCLLAYSGLIGTVMTPN
YIDSSSLSVAPWCDCSNSGNDLEECLKFLNFFKDNTC
LKNAIQAFGNGSDVTVWQPAFPV
QTTTATTTTALRVKNKPLGPAGSENEIPTHVLPPCANLQAQKLKSNVSGNTHLCISNGNY
EKEGLGASSHITTKSMAAPPSCGLSPLLVLVVTALSTLLSLTETS
Sequence length 465
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAF/MAP kinase cascade
RET signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 N/A N/A ClinVar
Huntington Disease Huntington's disease progression N/A N/A GWAS
Migraine with Aura Migraine with aura N/A N/A GWAS
RENAL HYPODYSPLASIA/APLASIA renal hypodysplasia/aplasia 4 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26867769
Alzheimer Disease Associate 25253858
Brain Neoplasms Associate 10408842
Breast Neoplasms Stimulate 23351331
Breast Neoplasms Associate 23650283, 24641868, 33838601
Cakut Associate 22729463, 36292572
Carcinoma Adenoid Cystic Associate 33628594
Carcinoma Hepatocellular Associate 31545220, 33215421
Colorectal Neoplasms Associate 27566576
Diabetes Gestational Associate 35721735