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Reviewed, UniProtKB/Swiss-Prot O00451 (GFRA2_HUMAN)

Last modified March 2, 2010. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
GDNF family receptor alpha-2

Short name=GFR-alpha-2
Short name=GDNF receptor alpha-2
Short name=GDNFR-alpha-2
Alternative name(s):
Neurturin receptor alpha
Short name=NRTNR-alpha
Short name=NTNR-alpha
TGF-beta-related neurotrophic factor receptor 2
GDNF receptor beta
Short name=GDNFR-beta
RET ligand 2
Gene names
Name:GFRA2
Synonyms:GDNFRB, RETL2, TRNR2
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length464 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level.

General annotation (Comments)

Function

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.

Subcellular location

Cell membrane; Lipid-anchorGPI-anchor By similarity.

Tissue specificity

Isoform 1 is found in both brain and placenta.

Sequence similarities

Belongs to the GDNFR family.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
   Molecular functionReceptor
   PTMGPI-anchor
Glycoprotein
Lipoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processtransmembrane receptor protein tyrosine kinase signaling pathway

Traceable author statement. Source: ProtInc

   Cellular componentanchored to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

extrinsic to membrane

Traceable author statement. Source: ProtInc

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionglial cell line-derived neurotrophic factor receptor activity

Traceable author statement. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00451-1)

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.
Isoform 2 (identifier: O00451-2)

Also known as: Short;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 444423GDNF family receptor alpha-2
PRO_0000010785
Propeptide445 – 46420Removed in mature form Potential
PRO_0000010786

Amino acid modifications

Lipidation4441GPI-anchor amidated serine Potential
Glycosylation521N-linked (GlcNAc...) Potential
Glycosylation3571N-linked (GlcNAc...) Potential
Glycosylation4131N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence14 – 146133Missing in isoform 2.
VSP_001661
Natural variant4621L → Q: dbSNP rs1128397. Ref.1 Ref.2 Ref.4
VAR_059976

Experimental info

Sequence conflict61V → A in AAB61922. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified October 31, 2006. Version 2.
Checksum: 8BC61529530FF21F

FASTA46451,544
        10         20         30         40         50         60 
MILANVFCLF FFLDETLRSL ASPSSLQGPE LHGWRPPVDC VRANELCAAE SNCSSRYRTL 

        70         80         90        100        110        120 
RQCLAGRDRN TMLANKECQA ALEVLQESPL YDCRCKRGMK KELQCLQIYW SIHLGLTEGE 

       130        140        150        160        170        180 
EFYEASPYEP VTSRLSDIFR LASIFSGTGA DPVVSAKSNH CLDAAKACNL NDNCKKLRSS 

       190        200        210        220        230        240 
YISICNREIS PTERCNRRKC HKALRQFFDR VPSEYTYRML FCSCQDQACA ERRRQTILPS 

       250        260        270        280        290        300 
CSYEDKEKPN CLDLRGVCRT DHLCRSRLAD FHANCRASYQ TVTSCPADNY QACLGSYAGM 

       310        320        330        340        350        360 
IGFDMTPNYV DSSPTGIVVS PWCSCRGSGN MEEECEKFLR DFTENPCLRN AIQAFGNGTD 

       370        380        390        400        410        420 
VNVSPKGPSF QATQAPRVEK TPSLPDDLSD STSLGTSVIT TCTSVQEQGL KANNSKELSM 

       430        440        450        460 
CFTELTTNII PGSNKVIKPN SGPSRARPSA ALTVLSVLML KLAL 

« Hide

Isoform 2 (Short).

Checksum: 10ECFBA492E2393C
Show »

FASTA33136,456

References

« Hide 'large scale' references
[1]"TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret."
Baloh R.H., Tansey M.G., Golden J.P., Creedon D.J., Heuckeroth R.O., Keck C.L., Zimonjic D.B., Popescu N.C., Johnson E.M. Jr., Milbrandt J.
Neuron 18:793-802(1997) [PubMed: 9182803] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT GLN-462.
[2]"Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha."
Suvanto P., Wartiovaara K., Lindahl M., Arumae U., Moshnyakov M., Horelli-Kuitunen N., Airaksinen M.S., Palotie A., Sariola H., Saarma M.
Hum. Mol. Genet. 6:1267-1273(1997) [PubMed: 9259272] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLN-462.
Tissue: Fetal brain.
[3]"Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins."
Sanicola M., Hession C.A., Worley D.S., Carmillo P., Ehrenfels C., Walus L., Robinson S., Jaworski G., Wei H., Tizard R., Whitty A., Pepinsky R.B., Cate R.L.
Proc. Natl. Acad. Sci. U.S.A. 94:6238-6243(1997) [PubMed: 9177201] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[4]Yoong L.F., Too H.P.
Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT GLN-462.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF002700 mRNA. Translation: AAC52036.1.
U93703 mRNA. Translation: AAB61922.1.
U97145 mRNA. Translation: AAC51647.1.
AY326396 mRNA. Translation: AAP88378.1.
BC041688 mRNA. Translation: AAH41688.1.
IPIIPI00011732.
IPI00398301.
RefSeqNP_001158510.1.
NP_001158511.1.
NP_001486.4.
UniGeneHs.441202

3D structure databases

SMRO00451. Positions 157-355, 247-356.
ModBaseSearch...

Protein-protein interaction databases

STRINGO00451.

Proteomic databases

PRIDEO00451.

Genome annotation databases

EnsemblENST00000306793; ENSP00000306654; ENSG00000168546; Homo sapiens. [Genome view]
GeneID2675.
UCSCuc003wzu.1. human.
uc003wzw.1. human.

Organism-specific databases

CTD2675.
GeneCardsGC08M021593.
H-InvDBHIX0025538.
HGNCHGNC:4244. GFRA2.
HPAHPA024704.
MIM601956. gene.
PharmGKBPA28654.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG11053.
HOGENOMHBG713385.
HOVERGENHBG051725.
InParanoidO00451.
OMAYEPVTSR.
OrthoDBEOG9030C0.
PhylomeDBO00451.

Enzyme and pathway databases

ReactomeREACT_18266. Axon guidance.

Gene expression databases

ArrayExpressO00451.
BgeeO00451.
CleanExHS_GFRA2.
GenevestigatorO00451.
GermOnlineENSG00000168546. Homo sapiens.

Family and domain databases

InterProIPR016017. GDNF/GAS1.
IPR003438. GDNF_rcpt.
IPR003504. GDNF_rcpt_a2.
IPR017372. Glial_neurotroph_fac_rcpt_a1/2.
[Graphical view]
PfamPF02351. GDNF. 3 hits.
[Graphical view]
PIRSFPIRSF038071. GDNF_family_receptor_alpha. 1 hit.
PRINTSPR01318. GDNFRALPHA2.
PR01316. GDNFRECEPTOR.
ProtoNetSearch...

Other Resources

NextBio10560.
SOURCESearch...

Entry information

Entry nameGFRA2_HUMAN
AccessionPrimary (citable) accession number: O00451
Secondary accession number(s): O15316 expand/collapse secondary AC list , O15328, Q6GTR9, Q7Z5C2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 31, 2006
Last modified: March 2, 2010
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

Relevant documents

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents