• Gene id: 2675

Gene Summary

• Gene Symbol: GFRA2   Gene   UCSC   Ensembl
• Aliases: GDNFRB, NRTNR-ALPHA, NTNRA, RETL2, TRNR2
• Gene name: GDNF family receptor alpha 2
• Alternate names: GDNF family receptor alpha-2, GDNF receptor beta, GDNFR-alpha-2, GDNFR-beta, GFR-alpha 2, NTNR-alpha, PI-linked cell-surface accessory protein, RET ligand 2, TGF-beta-related neurotrophic factor receptor 2, TRN receptor, GPI-anchored, glial cell line derived neurot,
• Gene location: 8p21.3 (21789295: 21690397)     Exons: 11     NC_000008.11
• Gene summary(Entrez): Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the
• OMIM: 609475

Protein Summary

• Protein general information: O00451  
  • Name: GDNF family receptor alpha 2 (GDNF receptor alpha 2) (GDNFR alpha 2) (GFR alpha 2) (GDNF receptor beta) (GDNFR beta) (Neurturin receptor alpha) (NRTNR alpha) (NTNR alpha) (RET ligand 2) (TGF beta related neurotrophic factor receptor 2)
  • Length: 464  
  • Mass: 51544
  • Tissue specificity: Isoform 1 is found in both brain and placenta.
• Sequence:

  MILANVFCLFFFLDETLRSLASPSSLQGPELHGWRPPVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLAN
  KECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGA
  DPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQ
  DQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGM
  IGFDMTPNYVDSSPTGIVVSPWCSCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTDVNVSPKGPSFQATQA
  PRVEKTPSLPDDLSDSTSLGTSVITTCTSVQEQGLKANNSKELSMCFTELTTNIIPGSNKVIKPNSGPSRARPSA
  ALTVLSVLMLKLAL

• Structural information:
  • Interpro: IPR016017  IPR037193  IPR003438  IPR003504  IPR017372  
  • PDB: 5MR4 5MR5 6GL7 6Q2O 6Q2R
  • PDBsum: 5MR4 5MR5 6GL7 6Q2O 6Q2R
  • STRING: ENSP00000428518
• Other Databases: GeneCards:  GFRA2  Malacards:  GFRA2

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:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016167	glial cell-derived neurotrophic factor receptor activity	TAS	molecular function
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
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:0016167	glial cell-derived neurotrophic factor receptor activity	IEA	molecular function
GO:0031953	negative regulation of protein autophosphorylation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	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
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray