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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GFRA4
GDNF family receptor alpha 4
Chromosome 20 · 20p13
NCBI Gene: 64096Ensembl: ENSG00000125861.17HGNC: HGNC:13821UniProt: Q9GZZ7
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glial cell-derived neurotrophic factor receptor activityglial cell-derived neurotrophic factor receptor signaling pathwayplasma membranesignaling receptor complexarthrogryposis multiplex congenitafetal akinesia deformation sequencefetal akinesia deformation sequence 1medullary thyroid gland carcinoma
✦AI Summary

GFRA4 is a glycosylphosphatidylinositol-linked receptor for persephin (PSPN), a neurotrophic ligand 1. It functions as the ligand-binding component of a signaling complex with the RET receptor tyrosine kinase, enabling PSPN-induced RET autophosphorylation and activation 1. GFRA4 undergoes developmentally regulated alternative splicing, generating GPI-linked, transmembrane, and putative soluble isoforms with tissue-specific expression patterns 2. The receptor is predominantly expressed in thyroid medullary C cells, parathyroid, and pituitary glands, suggesting roles in endocrine cell development 21. In the enteric nervous system, GFRA4 expression supports neural crest-derived cell survival and proliferation; reduced GFRA4 expression due to aberrant CpG hypermethylation contributes to Hirschsprung disease pathogenesis 3. MicroRNA regulation of GFRA4 (via miR-195-5p and miR-483-5p) modulates enteric nerve cell proliferation and apoptosis in disease contexts 45. GFRA4 expression is also detected in intervertebral disc tissues, where it may participate in discogenic pain pathogenesis 6. Additionally, rare GFRA4 variants show association with paroxysmal atrial fibrillation in Japanese populations 7, suggesting broader cardiovascular involvement.

Sources cited
1
GFRA4 is the receptor for persephin and signals through RET receptor tyrosine kinase; predominantly expressed in thyroid medullary cells
PMID: 11116144
2
GFRA4 undergoes developmentally regulated alternative splicing; expressed in thyroid, parathyroid, pituitary, and nervous system tissues
PMID: 10860579
3
Reduced GFRA4 expression through CpG hypermethylation in Hirschsprung disease; GFRA4 promotes neural cell proliferation and invasion while inhibiting apoptosis
PMID: 29634418
4
miR-195-5p directly targets GFRA4 and inhibits enteric nerve cell proliferation and invasion in Hirschsprung disease
PMID: 33515383
5
miR-483-5p downregulation promotes cell proliferation by targeting GFRA4 in Hirschsprung's disease
PMID: 29090971
6
GFRA4 expression detected in human intervertebral disc tissues and upregulated in advanced degeneration stages
PMID: 37958856
7
GFRA4 variants associated with increased risk of paroxysmal atrial fibrillation in Japanese population
PMID: 40240483
8
GFRA4 expression is almost absent in glioblastoma tissue, contrasting with GFRA1 widespread expression
PMID: 41015934
Disease Associationsⓘ20
arthrogryposis multiplex congenitaOpen Targets
0.12Weak
fetal akinesia deformation sequenceOpen Targets
0.12Weak
fetal akinesia deformation sequence 1Open Targets
0.12Weak
medullary thyroid gland carcinomaOpen Targets
0.07Suggestive
hyperthyroxinemiaOpen Targets
0.06Suggestive
gliomaOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 3Open Targets
0.05Suggestive
thyroid hormone metabolism, abnormal 1Open Targets
0.04Suggestive
familial thyroid dyshormonogenesisOpen Targets
0.04Suggestive
selective pituitary resistance to thyroid hormoneOpen Targets
0.04Suggestive
thyroid hormone resistance, generalized, autosomal dominantOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
hypothyroidism, congenital, nongoitrous, 9Open Targets
0.03Suggestive
hypothyroidism due to TSH receptor mutationsOpen Targets
0.03Suggestive
hypothyroidism, congenital, nongoitrous, 5Open Targets
0.03Suggestive
X-linked central congenital hypothyroidism with late-onset testicular enlargementOpen Targets
0.03Suggestive
urinary system diseaseOpen Targets
0.03Suggestive
Congenital atransferrinemiaOpen Targets
0.03Suggestive
thyroid hormone resistance, generalized, autosomal recessiveOpen Targets
0.03Suggestive
familial gestational hyperthyroidismOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GDNFProtein interaction100%RETProtein interaction100%GFRA3Protein interaction81%PSPNProtein interaction77%ARTNProtein interaction75%NRTNProtein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GFRA4GDNFRETGFRA3PSPNARTNNRTN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9GZZ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.97 [1.39–1.98]
RankingsWhere GFRA4 stands among ~20K protein-coding genes
  • #16,169of 20,598
    Most Researched13
  • #17,819of 17,882
    Most Constrained (LOEUF)1.98
Genes detectedGFRA4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population.
PMID: 40240483
Sci Rep · 2025
1.00
2
Demethylation of GFRA4 Promotes Cell Proliferation and Invasion in Hirschsprung Disease.
PMID: 29634418
DNA Cell Biol · 2018
0.90
3
Expression of Glial Cell Line-derived Neurotrophic Factor and Its Receptors in Glioblastoma.
PMID: 41015934
J Histochem Cytochem · 2025
0.80
4
Expression and alternative splicing of mouse Gfra4 suggest roles in endocrine cell development.
PMID: 10860579
Mol Cell Neurosci · 2000
0.70
5
Expression of Glial-Cell-Line-Derived Neurotrophic Factor Family Ligands in Human Intervertebral Discs.
PMID: 37958856
Int J Mol Sci · 2023
0.60