GFRA3 (GDNF family receptor alpha 3)

Gene

• Entrez ID: 2676
• Gene name: GDNF family receptor alpha 3
• Gene symbol: GFRA3
• Synonyms (NCBI Gene): GDNFR3
• Chromosome: 5
• Chromosome location: 5q31.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT731397	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28356515
MIRT731397	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28356515
MIRT731397	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28356515
MIRT731397	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28356515
MIRT731397	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28356515
MIRT731397	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	28356515
MIRT2234439	hsa-miR-1270	CLIP-seq
MIRT2234440	hsa-miR-1273f	CLIP-seq
MIRT2234441	hsa-miR-224	CLIP-seq
MIRT2234442	hsa-miR-342-5p	CLIP-seq
MIRT2234443	hsa-miR-4651	CLIP-seq
MIRT2234444	hsa-miR-4664-5p	CLIP-seq
MIRT2234445	hsa-miR-4683	CLIP-seq
MIRT2234446	hsa-miR-4795-5p	CLIP-seq
MIRT2234447	hsa-miR-608	CLIP-seq
MIRT2234448	hsa-miR-620	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0005102	Function	Signaling receptor binding	TAS	9407096
GO:0005515	Function	Protein binding	IPI	16765900
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	9576965
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	9490034, 9576965
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9490034
GO:0007411	Process	Axon guidance	IEA
GO:0007422	Process	Peripheral nervous system development	TAS	9576965
GO:0008046	Function	Axon guidance receptor activity	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016167	Function	Glial cell-derived neurotrophic factor receptor activity	IDA	31535977
GO:0016167	Function	Glial cell-derived neurotrophic factor receptor activity	IEA
GO:0019898	Component	Extrinsic component of membrane	TAS	9490034
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IDA	31535977
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048666	Process	Neuron development	IEA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 605710
• HGNC: 4245
• e!Ensembl: ENSG00000146013

Protein

• UniProt ID: O60609
• Protein name: GDNF family receptor alpha-3 (GDNF receptor alpha-3) (GDNFR-alpha-3) (GFR-alpha-3)
• Protein function: Receptor for artemin (ARTN), a growth factor that supports the survival of sensory and sympathetic peripheral neurons (PubMed:31535977, PubMed:9883723). ARTN-binding leads to autophosphorylation and activation of the RET receptor (PubMed:3153597
• PDB: 2GH0, 6Q2S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02351	GDNF	44 → 125	GDNF/GAS1 domain	Domain
  PF02351	GDNF	162 → 239	GDNF/GAS1 domain	Domain
  PF02351	GDNF	248 → 340	GDNF/GAS1 domain	Domain

• Tissue specificity: 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:

  MVRPLNPRPLPPVVLMLLLLLPPSPLPLAAGDPLPTESRLMNSCLQARRKCQADPTCSAA
  YHHLDSCTSSISTPLPSEEPSVPADCLEAAQQLRNSSLIGCMCHRRMKNQVACLDIYWTV
  HRARSLGNYELDVSPYEDTVTSKPWKMNLSKLNMLKPDSDLCLKFAMLCTLNDKCDRLRK
  AYGEACSGPHCQRHVCLRQLLTFFEKAAEPHAQGLLLCPCAPNDRGCGERRRNTIAPNCA
  LPPVAPNCLELRRLCFSDPLCRSRLVDFQTHCHPMDILGTCATEQSRCLRAYLGLIGTAM
  TPNFVSNVNTSVALSCTCRGSGNLQEECEMLEGFFSHNPCLTEAIAAKMRFHSQLFSQDW
  PHPTFAVMAHQNENPAVRPQPWVPSLFSCTLPLILLLSLW

• Sequence length: 400

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	23351331		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23351331	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28356515, 32526247	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	16858191	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30811036		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	10978357	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31188015		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22031517		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	20522586	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23351331	Stimulate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	11360200, 12490080		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23351331		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28871274		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20530713		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22901124	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	17047099	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20116071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20116071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	26984265	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	33600668	Inhibit	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28651425		★☆☆☆☆ Found in Text Mining only