Gene Gene information from NCBI Gene database.
Entrez ID 2674
Gene name GDNF family receptor alpha 1
Gene symbol GFRA1
Synonyms (NCBI Gene)
GDNFRGDNFR-alpha-1GDNFRAGFR-ALPHA-1GFRalpha-1RET1LRETL1RHDA4TRNR1
Chromosome 10
Chromosome location 10q25.3
Summary 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.
1536
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601496 4243 ENSG00000151892
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Renal hypodysplasia/aplasia 4 Likely pathogenic; Pathogenic rs191814086, rs2133762469, rs746138428 RCV002248437
RCV002248438
RCV002248439
★★★★☆
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
Aganglionic megacolon Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEYS SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY GWAS catalog
★★☆☆☆
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
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30335884
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25253858 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 10023033
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30195499
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 10408842
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 10408842 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18089803, 23351331, 26853153, 29796165
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23351331 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23650283, 24641868, 33838601 Associate
★☆☆☆☆
Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked Bulbospinal Atrophy, X-Linked BEFREE 10447463
★☆☆☆☆
Found in Text Mining only