• Gene id: 2676

Gene Summary

• Gene Symbol: GFRA3   Gene   UCSC   Ensembl
• Aliases: GDNFR3
• Gene name: GDNF family receptor alpha 3
• Alternate names: GDNF family receptor alpha-3, GDNF receptor alpha-3, GDNFR-alpha-3, GFR-alpha-3, GPI-linked receptor, glial cell line-derived neurotrophic factor receptor alpha-3,
• Gene location: 5q31.2 (138274620: 138252379)     Exons: 8     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided
• OMIM: 150200

SNPs

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

Protein Summary

• Protein general information: O60609  
  • Name: GDNF family receptor alpha 3 (GDNF receptor alpha 3) (GDNFR alpha 3) (GFR alpha 3)
  • Length: 400  
  • Mass: 44511
  • Tissue specificity: Widely expressed in adult and fetus which exhibit a similar pattern. Essentially not expressed in the central nervous system, but highly expressed in several sensory and sympathetic ganglia of the peripheral nervous system. Moderate ex
• Sequence:

  MVRPLNPRPLPPVVLMLLLLLPPSPLPLAAGDPLPTESRLMNSCLQARRKCQADPTCSAAYHHLDSCTSSISTPL
  PSEEPSVPADCLEAAQQLRNSSLIGCMCHRRMKNQVACLDIYWTVHRARSLGNYELDVSPYEDTVTSKPWKMNLS
  KLNMLKPDSDLCLKFAMLCTLNDKCDRLRKAYGEACSGPHCQRHVCLRQLLTFFEKAAEPHAQGLLLCPCAPNDR
  GCGERRRNTIAPNCALPPVAPNCLELRRLCFSDPLCRSRLVDFQTHCHPMDILGTCATEQSRCLRAYLGLIGTAM
  TPNFVSNVNTSVALSCTCRGSGNLQEECEMLEGFFSHNPCLTEAIAAKMRFHSQLFSQDWPHPTFAVMAHQNENP
  AVRPQPWVPSLFSCTLPLILLLSLW

• Structural information:
  • Interpro: IPR016017  IPR037193  IPR003438  IPR003505  
  • PDB: 2GH0 6Q2S
  • PDBsum: 2GH0 6Q2S
  • DIP: 29114
  • STRING: ENSP00000274721
• Other Databases: GeneCards:  GFRA3  Malacards:  GFRA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016167	glial cell-derived neurotrophic factor receptor activity	IBA	molecular function
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0043235	receptor complex	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0007422	peripheral nervous system development	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0019898	extrinsic component of membrane	TAS	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:0005515	protein binding	IPI	molecular function
GO:0001764	neuron migration	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0008046	axon guidance receptor activity	IEA	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R