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Protein

GDNF family receptor alpha-2

Gene

GFRA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.
Isoform 2: participates in NRTN-induced 'Ser-727' phosphorylation of STAT3.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168546-MONOMER.
ReactomeiR-HSA-419037. NCAM1 interactions.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-8853659. RET signaling.
SIGNORiO00451.

Names & Taxonomyi

Protein namesi
Recommended name:
GDNF family receptor alpha-2
Short name:
GDNF receptor alpha-2
Short name:
GDNFR-alpha-2
Short name:
GFR-alpha-2
Alternative name(s):
GDNF receptor beta
Short name:
GDNFR-beta
Neurturin receptor alpha
Short name:
NRTNR-alpha
Short name:
NTNR-alpha
RET ligand 2
TGF-beta-related neurotrophic factor receptor 2
Gene namesi
Name:GFRA2
Synonyms:GDNFRB, RETL2, TRNR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:4244. GFRA2.

Subcellular locationi

GO - Cellular componenti

  • anchored component of membrane Source: UniProtKB-KW
  • extrinsic component of membrane Source: ProtInc
  • intracellular Source: GOC
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi2675.
OpenTargetsiENSG00000168546.
PharmGKBiPA28654.

Polymorphism and mutation databases

BioMutaiGFRA2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001078522 – 444GDNF family receptor alpha-2Add BLAST423
PropeptideiPRO_0000010786445 – 464Removed in mature formSequence analysisAdd BLAST20

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...)Sequence analysis1
Glycosylationi357N-linked (GlcNAc...)Sequence analysis1
Glycosylationi413N-linked (GlcNAc...)Sequence analysis1
Lipidationi444GPI-anchor amidated serineSequence analysis1

Keywords - PTMi

Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiO00451.
PeptideAtlasiO00451.
PRIDEiO00451.

PTM databases

iPTMnetiO00451.
PhosphoSitePlusiO00451.

Expressioni

Tissue specificityi

Isoform 1 is found in both brain and placenta.

Gene expression databases

BgeeiENSG00000168546.
CleanExiHS_GFRA2.
ExpressionAtlasiO00451. baseline and differential.
GenevisibleiO00451. HS.

Organism-specific databases

HPAiCAB032791.
HPA024704.

Interactioni

Protein-protein interaction databases

BioGridi108943. 3 interactors.
STRINGi9606.ENSP00000428518.

Structurei

3D structure databases

ProteinModelPortaliO00451.
SMRiO00451.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GDNFR family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IU4F. Eukaryota.
ENOG410XPTA. LUCA.
GeneTreeiENSGT00550000074579.
HOGENOMiHOG000008695.
HOVERGENiHBG051725.
InParanoidiO00451.
OMAiSLCRTDH.
OrthoDBiEOG091G087B.
PhylomeDBiO00451.
TreeFamiTF331647.

Family and domain databases

InterProiIPR016017. GDNF/GAS1.
IPR003438. GDNF_rcpt.
IPR003504. GDNF_rcpt_a2.
IPR017372. Glial_neurotroph_fac_rcpt_a1/2.
[Graphical view]
PfamiPF02351. GDNF. 3 hits.
[Graphical view]
PIRSFiPIRSF038071. GDNF_family_receptor_alpha. 1 hit.
PRINTSiPR01318. GDNFRALPHA2.
PR01316. GDNFRECEPTOR.
SMARTiSM00907. GDNF. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00451-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MILANVFCLF FFLDETLRSL ASPSSLQGPE LHGWRPPVDC VRANELCAAE
60 70 80 90 100
SNCSSRYRTL RQCLAGRDRN TMLANKECQA ALEVLQESPL YDCRCKRGMK
110 120 130 140 150
KELQCLQIYW SIHLGLTEGE EFYEASPYEP VTSRLSDIFR LASIFSGTGA
160 170 180 190 200
DPVVSAKSNH CLDAAKACNL NDNCKKLRSS YISICNREIS PTERCNRRKC
210 220 230 240 250
HKALRQFFDR VPSEYTYRML FCSCQDQACA ERRRQTILPS CSYEDKEKPN
260 270 280 290 300
CLDLRGVCRT DHLCRSRLAD FHANCRASYQ TVTSCPADNY QACLGSYAGM
310 320 330 340 350
IGFDMTPNYV DSSPTGIVVS PWCSCRGSGN MEEECEKFLR DFTENPCLRN
360 370 380 390 400
AIQAFGNGTD VNVSPKGPSF QATQAPRVEK TPSLPDDLSD STSLGTSVIT
410 420 430 440 450
TCTSVQEQGL KANNSKELSM CFTELTTNII PGSNKVIKPN SGPSRARPSA
460
ALTVLSVLML KLAL
Length:464
Mass (Da):51,544
Last modified:October 31, 2006 - v2
Checksum:i8BC61529530FF21F
GO
Isoform 2 (identifier: O00451-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     14-146: Missing.

Show »
Length:331
Mass (Da):36,456
Checksum:i10ECFBA492E2393C
GO
Isoform 3 (identifier: O00451-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     14-118: Missing.

Note: No experimental confirmation available.
Show »
Length:359
Mass (Da):39,649
Checksum:i23DD986A230B7AD0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6V → A in AAB61922 (PubMed:9259272).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059976462L → Q.3 PublicationsCorresponds to variant rs1128397dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00166114 – 146Missing in isoform 2. 2 PublicationsAdd BLAST133
Alternative sequenceiVSP_04611214 – 118Missing in isoform 3. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF002700 mRNA. Translation: AAC52036.1.
U93703 mRNA. Translation: AAB61922.1.
U97145 mRNA. Translation: AAC51647.1.
AY326396 mRNA. Translation: AAP88378.1.
AY941828 mRNA. Translation: AAX46325.1.
AC105186 Genomic DNA. No translation available.
AC129925 Genomic DNA. No translation available.
AP008236 Genomic DNA. No translation available.
BC041688 mRNA. Translation: AAH41688.1.
CCDSiCCDS47816.1. [O00451-1]
CCDS55207.1. [O00451-2]
CCDS55208.1. [O00451-3]
RefSeqiNP_001158510.1. NM_001165038.1. [O00451-3]
NP_001158511.1. NM_001165039.1. [O00451-2]
NP_001486.4. NM_001495.4. [O00451-1]
XP_006716390.1. XM_006716327.3. [O00451-1]
XP_011542786.1. XM_011544484.2. [O00451-1]
UniGeneiHs.441202.

Genome annotation databases

EnsembliENST00000517328; ENSP00000429445; ENSG00000168546. [O00451-1]
ENST00000517892; ENSP00000429979; ENSG00000168546. [O00451-3]
ENST00000518077; ENSP00000429206; ENSG00000168546. [O00451-2]
ENST00000524240; ENSP00000428518; ENSG00000168546. [O00451-1]
GeneIDi2675.
KEGGihsa:2675.
UCSCiuc003wzu.2. human. [O00451-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF002700 mRNA. Translation: AAC52036.1.
U93703 mRNA. Translation: AAB61922.1.
U97145 mRNA. Translation: AAC51647.1.
AY326396 mRNA. Translation: AAP88378.1.
AY941828 mRNA. Translation: AAX46325.1.
AC105186 Genomic DNA. No translation available.
AC129925 Genomic DNA. No translation available.
AP008236 Genomic DNA. No translation available.
BC041688 mRNA. Translation: AAH41688.1.
CCDSiCCDS47816.1. [O00451-1]
CCDS55207.1. [O00451-2]
CCDS55208.1. [O00451-3]
RefSeqiNP_001158510.1. NM_001165038.1. [O00451-3]
NP_001158511.1. NM_001165039.1. [O00451-2]
NP_001486.4. NM_001495.4. [O00451-1]
XP_006716390.1. XM_006716327.3. [O00451-1]
XP_011542786.1. XM_011544484.2. [O00451-1]
UniGeneiHs.441202.

3D structure databases

ProteinModelPortaliO00451.
SMRiO00451.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108943. 3 interactors.
STRINGi9606.ENSP00000428518.

PTM databases

iPTMnetiO00451.
PhosphoSitePlusiO00451.

Polymorphism and mutation databases

BioMutaiGFRA2.

Proteomic databases

PaxDbiO00451.
PeptideAtlasiO00451.
PRIDEiO00451.

Protocols and materials databases

DNASUi2675.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000517328; ENSP00000429445; ENSG00000168546. [O00451-1]
ENST00000517892; ENSP00000429979; ENSG00000168546. [O00451-3]
ENST00000518077; ENSP00000429206; ENSG00000168546. [O00451-2]
ENST00000524240; ENSP00000428518; ENSG00000168546. [O00451-1]
GeneIDi2675.
KEGGihsa:2675.
UCSCiuc003wzu.2. human. [O00451-1]

Organism-specific databases

CTDi2675.
DisGeNETi2675.
GeneCardsiGFRA2.
HGNCiHGNC:4244. GFRA2.
HPAiCAB032791.
HPA024704.
MIMi601956. gene.
neXtProtiNX_O00451.
OpenTargetsiENSG00000168546.
PharmGKBiPA28654.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU4F. Eukaryota.
ENOG410XPTA. LUCA.
GeneTreeiENSGT00550000074579.
HOGENOMiHOG000008695.
HOVERGENiHBG051725.
InParanoidiO00451.
OMAiSLCRTDH.
OrthoDBiEOG091G087B.
PhylomeDBiO00451.
TreeFamiTF331647.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168546-MONOMER.
ReactomeiR-HSA-419037. NCAM1 interactions.
R-HSA-5673001. RAF/MAP kinase cascade.
R-HSA-8853659. RET signaling.
SIGNORiO00451.

Miscellaneous databases

GeneWikiiGFRA2_(gene).
GenomeRNAii2675.
PROiO00451.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168546.
CleanExiHS_GFRA2.
ExpressionAtlasiO00451. baseline and differential.
GenevisibleiO00451. HS.

Family and domain databases

InterProiIPR016017. GDNF/GAS1.
IPR003438. GDNF_rcpt.
IPR003504. GDNF_rcpt_a2.
IPR017372. Glial_neurotroph_fac_rcpt_a1/2.
[Graphical view]
PfamiPF02351. GDNF. 3 hits.
[Graphical view]
PIRSFiPIRSF038071. GDNF_family_receptor_alpha. 1 hit.
PRINTSiPR01318. GDNFRALPHA2.
PR01316. GDNFRECEPTOR.
SMARTiSM00907. GDNF. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGFRA2_HUMAN
AccessioniPrimary (citable) accession number: O00451
Secondary accession number(s): E9PD47
, O15316, O15328, Q58J92, Q6GTR9, Q7Z5C2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 31, 2006
Last modified: November 2, 2016
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.