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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GFRA1
GDNF family receptor alpha 1
Chromosome 10 Β· 10q25.3
NCBI Gene: 2674Ensembl: ENSG00000151892.17HGNC: HGNC:4243UniProt: B7Z856
98PubMed Papers
21Diseases
1Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glial cell-derived neurotrophic factor receptor signaling pathwayglial cell-derived neurotrophic factor receptor activityextracellular exosomeexternal side of plasma membranerenal hypodysplasia/aplasia 4renal agenesisbilateral renal agenesissmoking initiation
✦AI Summary

GFRA1 (GDNF family receptor alpha 1) functions as a GPI-linked coreceptor for glial cell-derived neurotrophic factor (GDNF), playing critical roles in neuronal development and survival 1. The protein facilitates GDNF binding, which leads to autophosphorylation and activation of the RET receptor tyrosine kinase, promoting neuronal survival through PI3K/AKT and ERK1/2 signaling pathways 1. In the reproductive system, GFRA1 is essential for spermatogonial stem cell regulation, with high expression marking stem cells that decrease as cells differentiate 2. GFRA1 also modulates human spermatogonial stem cell proliferation and survival through interactions with pleiotrophin signaling 3. Beyond its physiological roles, GFRA1 contributes to disease pathogenesis. In osteosarcoma, cisplatin treatment induces GFRA1 expression, which promotes chemoresistance by activating SRC-AMPK-dependent autophagy pathways, independent of RET signaling 45. Additionally, GFRA1 facilitates breast cancer metastasis through epigenetic regulation involving extracellular vesicle-mediated lncRNA SOX9-AS1 6. While GFRA1 was initially investigated as a candidate gene for Hirschsprung disease due to its role in RET signaling, genetic studies found no significant association 7. These findings highlight GFRA1's dual role in normal development and cancer progression.

Sources cited
1
GFRA1 functions as a coreceptor for GDNF and activates RET receptor through PI3K/AKT and ERK1/2 signaling pathways
PMID: 40101330
2
GFRA1 marks spermatogonial stem cells with high expression that decreases during differentiation
PMID: 28827392
3
GFRA1 modulates human spermatogonial stem cell proliferation and survival through pleiotrophin signaling
PMID: 39285301
4
GFRA1 promotes cisplatin-induced chemoresistance in osteosarcoma via SRC-AMPK-dependent autophagy
PMID: 27754745
5
GFRA1 expression is induced by cisplatin treatment and contributes to osteosarcoma chemoresistance
PMID: 29617307
6
GFRA1 facilitates breast cancer metastasis through epigenetic regulation by extracellular vesicle lncRNA SOX9-AS1
PMID: 40526376
7
GFRA1 was investigated but not found to be significantly associated with Hirschsprung disease
PMID: 9545641
Disease Associationsβ“˜21
renal hypodysplasia/aplasia 4Open Targets
0.46Moderate
renal agenesisOpen Targets
0.37Weak
bilateral renal agenesisOpen Targets
0.37Weak
smoking initiationOpen Targets
0.36Weak
osteitis deformansOpen Targets
0.33Weak
contractureOpen Targets
0.28Weak
Hirschsprung diseaseOpen Targets
0.26Weak
Myasthenia gravisOpen Targets
0.26Weak
esophageal cancerOpen Targets
0.26Weak
thrombophiliaOpen Targets
0.26Weak
bile duct disorderOpen Targets
0.26Weak
Abnormal erythrocyte morphologyOpen Targets
0.26Weak
ulcerative colitisOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.19Weak
glomerulonephritisOpen Targets
0.14Weak
Aganglionic megacolonOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
osteosarcomaOpen Targets
0.10Suggestive
Renal hypodysplasia/aplasia 4UniProt
Pathogenic Variants4
NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter)Likely pathogenic
Renal hypodysplasia/aplasia 4
β˜…β˜†β˜†β˜†2024β†’ Residue 226
NM_005264.8(GFRA1):c.792dup (p.Thr265fs)Pathogenic
GFRA1-related disorder|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 265
NM_005264.8(GFRA1):c.1294del (p.Thr432fs)Pathogenic
Renal hypodysplasia/aplasia 4
β˜†β˜†β˜†β˜†2022β†’ Residue 432
NM_005264.8(GFRA1):c.628G>T (p.Gly210Ter)Pathogenic
Renal hypodysplasia/aplasia 4
β˜†β˜†β˜†β˜†2022β†’ Residue 210
View on ClinVar β†—
Drug Targets1
LIATERMINPhase I/II
GDNF family receptor alpha-1 agonist
lateral sclerosis
Related Genes
GFRA3Protein interaction100%RETProtein interaction100%NCAM1Protein interaction96%SOX10Protein interaction88%NANOS2Protein interaction78%NTRK1Protein interaction77%
Tissue Expression6 tissues
Liver
100%
Heart
34%
Brain
24%
Ovary
22%
Lung
10%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
GFRA1GFRA3RETNCAM1SOX10NANOS2NTRK1
PROTEIN STRUCTURE
Preparing viewer…
PDB6Q2N Β· 4.40 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.16–0.45]
RankingsWhere GFRA1 stands among ~20K protein-coding genes
  • #4,881of 20,598
    Most Researched98 Β· top quartile
  • #3,747of 5,498
    Most Pathogenic Variants4
  • #2,459of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedGFRA1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Plasma proteomic signatures of social isolation and loneliness associated with morbidity and mortality.
PMID: 39753750
Nat Hum Behav Β· 2025
1.00
2
PTN from Leydig cells activates SDC2 and modulates human spermatogonial stem cell proliferation and survival via GFRA1.
PMID: 39285301
Biol Res Β· 2024
0.90
3
GFRA1: A Novel Molecular Target for the Prevention of Osteosarcoma Chemoresistance.
PMID: 29617307
Int J Mol Sci Β· 2018
0.80
4
Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
PMID: 9545641
Genomics Β· 1998
0.70
5
Molecular mechanisms of GDNF/GFRA1/RET and PI3K/AKT/ERK signaling interplay in neuroprotection: Therapeutic strategies for treating neurological disorders.
PMID: 40101330
Neuropeptides Β· 2025
0.60