GFRA4 (GDNF family receptor alpha 4)

Gene

• Entrez ID: 64096
• Gene name: GDNF family receptor alpha 4
• Gene symbol: GFRA4
• Synonyms (NCBI Gene): -
• Chromosome: 20
• Chromosome location: 20p13
• Summary: The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2388424	hsa-miR-3660	CLIP-seq
MIRT2388425	hsa-miR-4270	CLIP-seq
MIRT2388426	hsa-miR-4441	CLIP-seq
MIRT2388427	hsa-miR-4526	CLIP-seq
MIRT2388428	hsa-miR-483-5p	CLIP-seq
MIRT2450221	hsa-miR-3127-3p	CLIP-seq
MIRT2450222	hsa-miR-3194-5p	CLIP-seq
MIRT2450223	hsa-miR-4640-5p	CLIP-seq
MIRT2450224	hsa-miR-4726-5p	CLIP-seq
MIRT2450225	hsa-miR-513c	CLIP-seq
MIRT2450226	hsa-miR-514b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IDA	11116144
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007399	Process	Nervous system development	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016167	Function	Glial cell-derived neurotrophic factor receptor activity	IBA
GO:0016167	Function	Glial cell-derived neurotrophic factor receptor activity	IDA	11116144
GO:0016167	Function	Glial cell-derived neurotrophic factor receptor activity	IEA
GO:0030279	Process	Negative regulation of ossification	IEA
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IDA	31535977
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IDA	11116144
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 618679
• HGNC: 13821
• e!Ensembl: ENSG00000125861

Protein

• UniProt ID: Q9GZZ7
• Protein name: GDNF family receptor alpha-4 (GDNF receptor alpha-4) (GDNFR-alpha-4) (GFR-alpha-4) (Persephin receptor)
• Protein function: Receptor for persephin (PSPN), a growth factor that exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons (PubMed:11116144). Acts by binding to its coreceptor, GFRA4, leading to autophosphorylation and activation of the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02351	GDNF	26 → 105	GDNF/GAS1 domain	Domain
  PF02351	GDNF	117 → 241	GDNF/GAS1 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the adult thyroid gland. Low levels also found in fetal adrenal and thyroid glands. {ECO:0000269|PubMed:11116144}.
• Sequence:

  MVRCLGPALLLLLLLGSASSVGGNRCVDAAEACTADARCQRLRSEYVAQCLGRAAQGGCP
  RARCRRALRRFFARGPPALTHALLFCPCAGPACAERRRQTFVPSCAFSGPGPAPPSCLEP
  LNFCERSRVCRCARAAAGPWRGWGRGLSPAHRPPAAQASPPGLSGLVHPSAQRPRRLPAG
  PGRPLPARLRGPRGVPAGTAVTPNYVDNVSARVAPWCDCGASGNRREDCEAFRGLFTRNR
  CLDGAIQAFASGWPPVLLDQLNPQGDPEHSLLQVSSTGRALERRSLLSILPVLALPALL

• Sequence length: 299

Pathways

Reactome:

RAF/MAP kinase cascade
RET signaling

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Colorectal Neoplasms	Associate	27609023	★☆☆☆☆ Found in Text Mining only
Glioma	Associate	23674306	★☆☆☆☆ Found in Text Mining only
Panic Disorder	Associate	29391400	★☆☆☆☆ Found in Text Mining only