Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2675
Gene name Gene Name - the full gene name approved by the HGNC.	GDNF family receptor alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GFRA2
Synonyms (NCBI Gene) Gene synonyms aliases	GDNFRB, NRTNR-ALPHA, NTNRA, RETL2, TRNR2
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs796065050	G>A	Drug-response	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments
MIRT1017581	hsa-miR-1253	CLIP-seq
MIRT1017582	hsa-miR-1260	CLIP-seq
MIRT1017583	hsa-miR-1260b	CLIP-seq
MIRT1017584	hsa-miR-188-3p	CLIP-seq
MIRT1017585	hsa-miR-3150b-3p	CLIP-seq
MIRT1017586	hsa-miR-3156-3p	CLIP-seq
MIRT1017587	hsa-miR-3192	CLIP-seq
MIRT1017588	hsa-miR-345	CLIP-seq
MIRT1017589	hsa-miR-3591-3p	CLIP-seq
MIRT1017590	hsa-miR-3609	CLIP-seq
MIRT1017591	hsa-miR-3689a-3p	CLIP-seq
MIRT1017592	hsa-miR-3689c	CLIP-seq
MIRT1017593	hsa-miR-4256	CLIP-seq
MIRT1017594	hsa-miR-4728-5p	CLIP-seq
MIRT1017595	hsa-miR-4733-3p	CLIP-seq
MIRT1017596	hsa-miR-4768-3p	CLIP-seq
MIRT1017597	hsa-miR-4778-5p	CLIP-seq
MIRT1017598	hsa-miR-4784	CLIP-seq
MIRT1017599	hsa-miR-490-3p	CLIP-seq
MIRT1017600	hsa-miR-548ah	CLIP-seq
MIRT1017601	hsa-miR-665	CLIP-seq
MIRT1017602	hsa-miR-765	CLIP-seq
MIRT1017603	hsa-miR-1202	CLIP-seq
MIRT1017604	hsa-miR-155	CLIP-seq
MIRT1017605	hsa-miR-2355-5p	CLIP-seq
MIRT1017606	hsa-miR-3194-5p	CLIP-seq
MIRT1017607	hsa-miR-361-3p	CLIP-seq
MIRT1017608	hsa-miR-3621	CLIP-seq
MIRT1017609	hsa-miR-365	CLIP-seq
MIRT1017610	hsa-miR-3943	CLIP-seq
MIRT1017611	hsa-miR-3972	CLIP-seq
MIRT1017612	hsa-miR-4727-5p	CLIP-seq
MIRT1017613	hsa-miR-4769-3p	CLIP-seq
MIRT1017582	hsa-miR-1260	CLIP-seq
MIRT1017583	hsa-miR-1260b	CLIP-seq
MIRT1017584	hsa-miR-188-3p	CLIP-seq
MIRT1017586	hsa-miR-3156-3p	CLIP-seq
MIRT1017588	hsa-miR-345	CLIP-seq
MIRT1017593	hsa-miR-4256	CLIP-seq
MIRT1017597	hsa-miR-4778-5p	CLIP-seq
MIRT1017607	hsa-miR-361-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	TAS	9192898
GO:0007399	Process	Nervous system development	IBA	21873635
GO:0007411	Process	Axon guidance	TAS
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0016167	Function	Glial cell-derived neurotrophic factor receptor activity	IBA	21873635
GO:0019898	Component	Extrinsic component of membrane	TAS	10829012
GO:0031225	Component	Anchored component of membrane	IEA
GO:0031953	Process	Negative regulation of protein autophosphorylation	IEA
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0043235	Component	Receptor complex	IBA	21873635

MIM	HGNC	e!Ensembl
601956	4244	ENSG00000168546

Protein

UniProt ID

O00451

Protein 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)

Protein function

Receptor for neurturin (NRTN), a growth factor that supports the survival of sympathetic neurons (PubMed:10829012, PubMed:29414779, PubMed:31535977, PubMed:9182803). NRTN-binding leads to autophosphorylation and activation of the RET receptor (P

PDB

5MR4 , 5MR5 , 6GL7 , 6Q2O , 6Q2R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02351	GDNF	40 → 114	GDNF/GAS1 domain	Domain
PF02351	GDNF	161 → 241	GDNF/GAS1 domain	Domain
PF02351	GDNF	251 → 347	GDNF/GAS1 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: found in both brain and placenta. {ECO:0000269|PubMed:9259272}.

Sequence

MILANVFCLFFFLDETLRSLASPSSLQGPELHGWRPPVDCVRANELCAAESNCSSRYRTL
RQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGE
EFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSS
YISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPS
CSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGM
IGFDMTPNYVDSSPTGIVVSPWCSCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTD
VNVSPKGPSFQATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSVQEQGLKANNSKELSM
CFTELTTNIIPGSNKVIKPNSGPSRARPSAALTVLSVLMLKLAL

Sequence length

464

Interactions

View interactions

	Reactome
			RAF/MAP kinase cascade RET signaling

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Frontotemporal dementia	Frontotemporal dementia	rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092 View all (31 more)	29724592

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Schizophrenia	Schizophrenia		GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA
Diabetes	Diabetes		GWAS
Dementia	Dementia		GWAS

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenoma	Stimulate	24402129
Carcinogenesis	Associate	24402129, 35114976
Carcinoma Hepatocellular	Associate	25707620
Cardiovascular Diseases	Associate	35736394
Colorectal Neoplasms	Associate	35114976
Heart Failure	Associate	35736394
Hepatitis C	Associate	25707620
Neuralgia	Associate	24974787
Neurologic Manifestations	Associate	29724592
Pituitary Neoplasms	Associate	24402129

GFRA2 (GDNF family receptor alpha 2)