• Gene id: 64096

Gene Summary

• Gene Symbol: GFRA4   Gene   UCSC   Ensembl
• Gene name: GDNF family receptor alpha 4
• Alternate names: GDNF family receptor alpha-4, GDNF receptor alpha-4, GDNFR-alpha-4, GFR receptor alpha 4, GFR-alpha-4, persephin receptor,
• Gene location: 20p13 (3663398: 3659247)     Exons: 5     NC_000020.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9GZZ7  
  • Name: GDNF family receptor alpha 4 (GDNF receptor alpha 4) (GDNFR alpha 4) (GFR alpha 4) (Persephin receptor)
  • Length: 299  
  • Mass: 31670
  • Tissue specificity: Predominantly expressed in the adult thyroid gland. Low levels also found in fetal adrenal and thyroid glands.
• Sequence:

  MVRCLGPALLLLLLLGSASSVGGNRCVDAAEACTADARCQRLRSEYVAQCLGRAAQGGCPRARCRRALRRFFARG
  PPALTHALLFCPCAGPACAERRRQTFVPSCAFSGPGPAPPSCLEPLNFCERSRVCRCARAAAGPWRGWGRGLSPA
  HRPPAAQASPPGLSGLVHPSAQRPRRLPAGPGRPLPARLRGPRGVPAGTAVTPNYVDNVSARVAPWCDCGASGNR
  REDCEAFRGLFTRNRCLDGAIQAFASGWPPVLLDQLNPQGDPEHSLLQVSSTGRALERRSLLSILPVLALPALL

• Structural information:
  • Interpro: IPR016017  IPR037193  IPR003438  
  • STRING: ENSP00000313423
• Other Databases: GeneCards:  GFRA4  Malacards:  GFRA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043235	receptor complex	IBA	cellular component
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0016167	glial cell-derived neurotrophic factor receptor activity	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0030279	negative regulation of ossification	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0016167	glial cell-derived neurotrophic factor receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IEA	biological process
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq