ID GFRA2_HUMAN Reviewed; 464 AA. AC O00451; O15316; O15328; Q6GTR9; Q7Z5C2; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 31-OCT-2006, sequence version 2. DT 25-JAN-2012, entry version 98. DE RecName: Full=GDNF family receptor alpha-2; DE Short=GDNF receptor alpha-2; DE Short=GDNFR-alpha-2; DE Short=GFR-alpha-2; DE AltName: Full=GDNF receptor beta; DE Short=GDNFR-beta; DE AltName: Full=Neurturin receptor alpha; DE Short=NRTNR-alpha; DE Short=NTNR-alpha; DE AltName: Full=RET ligand 2; DE AltName: Full=TGF-beta-related neurotrophic factor receptor 2; DE Flags: Precursor; GN Name=GFRA2; Synonyms=GDNFRB, RETL2, TRNR2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND VARIANT GLN-462. RX MEDLINE=97325791; PubMed=9182803; DOI=10.1016/S0896-6273(00)80318-9; RA Baloh R.H., Tansey M.G., Golden J.P., Creedon D.J., Heuckeroth R.O., RA Keck C.L., Zimonjic D.B., Popescu N.C., Johnson E.M. Jr., RA Milbrandt J.; RT "TrnR2, a novel receptor that mediates neurturin and GDNF signaling RT through Ret."; RL Neuron 18:793-802(1997). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT GLN-462. RC TISSUE=Fetal brain; RX MEDLINE=97402208; PubMed=9259272; DOI=10.1093/hmg/6.8.1267; RA Suvanto P., Wartiovaara K., Lindahl M., Arumae U., Moshnyakov M., RA Horelli-Kuitunen N., Airaksinen M.S., Palotie A., Sariola H., RA Saarma M.; RT "Cloning, mRNA distribution and chromosomal localisation of the gene RT for glial cell line-derived neurotrophic factor receptor beta, a RT homologue to GDNFR-alpha."; RL Hum. Mol. Genet. 6:1267-1273(1997). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Liver; RX MEDLINE=97322356; PubMed=9177201; DOI=10.1073/pnas.94.12.6238; RA Sanicola M., Hession C.A., Worley D.S., Carmillo P., Ehrenfels C., RA Walus L., Robinson S., Jaworski G., Wei H., Tizard R., Whitty A., RA Pepinsky R.B., Cate R.L.; RT "Glial cell line-derived neurotrophic factor-dependent RET activation RT can be mediated by two different cell-surface accessory proteins."; RL Proc. Natl. Acad. Sci. U.S.A. 94:6238-6243(1997). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT GLN-462. RA Yoong L.F., Too H.P.; RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Receptor for neurturin. Mediates the NRTN-induced CC autophosphorylation and activation of the RET receptor. Also able CC to mediate GDNF signaling through the RET tyrosine kinase CC receptor. CC -!- SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor (By CC similarity). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; Synonyms=Long; CC IsoId=O00451-1; Sequence=Displayed; CC Name=2; Synonyms=Short; CC IsoId=O00451-2; Sequence=VSP_001661; CC -!- TISSUE SPECIFICITY: Isoform 1 is found in both brain and placenta. CC -!- SIMILARITY: Belongs to the GDNFR family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AF002700; AAC52036.1; -; mRNA. DR EMBL; U93703; AAB61922.1; -; mRNA. DR EMBL; U97145; AAC51647.1; -; mRNA. DR EMBL; AY326396; AAP88378.1; -; mRNA. DR EMBL; BC041688; AAH41688.1; -; mRNA. DR IPI; IPI00011732; -. DR IPI; IPI00398301; -. DR RefSeq; NP_001158510.1; NM_001165038.1. DR RefSeq; NP_001158511.1; NM_001165039.1. DR RefSeq; NP_001486.4; NM_001495.4. DR UniGene; Hs.441202; -. DR ProteinModelPortal; O00451; -. DR SMR; O00451; 157-359. DR STRING; O00451; -. DR PRIDE; O00451; -. DR Ensembl; ENST00000306793; ENSP00000306654; ENSG00000168546. DR GeneID; 2675; -. DR KEGG; hsa:2675; -. DR UCSC; uc003wzu.1; human. DR UCSC; uc003wzw.1; human. DR CTD; 2675; -. DR GeneCards; GC08M021593; -. DR H-InvDB; HIX0025538; -. DR HGNC; HGNC:4244; GFRA2. DR HPA; HPA024704; -. DR MIM; 601956; gene. DR neXtProt; NX_O00451; -. DR PharmGKB; PA28654; -. DR eggNOG; prNOG11053; -. DR GeneTree; ENSGT00550000074579; -. DR HOGENOM; HBG713385; -. DR HOVERGEN; HBG051725; -. DR InParanoid; O00451; -. DR OMA; RSLCRTD; -. DR OrthoDB; EOG4S7JQ5; -. DR PhylomeDB; O00451; -. DR Reactome; REACT_111045; Developmental Biology. DR NextBio; 10560; -. DR ArrayExpress; O00451; -. DR Bgee; O00451; -. DR CleanEx; HS_GFRA2; -. DR Genevestigator; O00451; -. DR GermOnline; ENSG00000168546; Homo sapiens. DR GO; GO:0031225; C:anchored to membrane; IEA:UniProtKB-KW. DR GO; GO:0019898; C:extrinsic to membrane; TAS:ProtInc. DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell. DR GO; GO:0016167; F:glial cell-derived neurotrophic factor receptor activity; TAS:ProtInc. DR InterPro; IPR016017; GDNF/GAS1. DR InterPro; IPR003438; GDNF_rcpt. DR InterPro; IPR003504; GDNF_rcpt_a2. DR InterPro; IPR017372; Glial_neurotroph_fac_rcpt_a1/2. DR Pfam; PF02351; GDNF; 3. DR PIRSF; PIRSF038071; GDNF_family_receptor_alpha; 1. DR PRINTS; PR01318; GDNFRALPHA2. DR PRINTS; PR01316; GDNFRECEPTOR. DR SMART; SM00907; GDNF; 3. PE 2: Evidence at transcript level; KW Alternative splicing; Cell membrane; Complete proteome; Glycoprotein; KW GPI-anchor; Lipoprotein; Membrane; Polymorphism; Receptor; KW Reference proteome; Signal. FT SIGNAL 1 21 Potential. FT CHAIN 22 444 GDNF family receptor alpha-2. FT /FTId=PRO_0000010785. FT PROPEP 445 464 Removed in mature form (Potential). FT /FTId=PRO_0000010786. FT LIPID 444 444 GPI-anchor amidated serine (Potential). FT CARBOHYD 52 52 N-linked (GlcNAc...) (Potential). FT CARBOHYD 357 357 N-linked (GlcNAc...) (Potential). FT CARBOHYD 413 413 N-linked (GlcNAc...) (Potential). FT VAR_SEQ 14 146 Missing (in isoform 2). FT /FTId=VSP_001661. FT VARIANT 462 462 L -> Q (in dbSNP:rs1128397). FT /FTId=VAR_059976. FT CONFLICT 6 6 V -> A (in Ref. 2; AAB61922). SQ SEQUENCE 464 AA; 51544 MW; 8BC61529530FF21F CRC64; MILANVFCLF FFLDETLRSL ASPSSLQGPE LHGWRPPVDC VRANELCAAE SNCSSRYRTL RQCLAGRDRN TMLANKECQA ALEVLQESPL YDCRCKRGMK KELQCLQIYW SIHLGLTEGE EFYEASPYEP VTSRLSDIFR LASIFSGTGA DPVVSAKSNH CLDAAKACNL NDNCKKLRSS YISICNREIS PTERCNRRKC HKALRQFFDR VPSEYTYRML FCSCQDQACA ERRRQTILPS CSYEDKEKPN CLDLRGVCRT DHLCRSRLAD FHANCRASYQ TVTSCPADNY QACLGSYAGM IGFDMTPNYV DSSPTGIVVS PWCSCRGSGN MEEECEKFLR DFTENPCLRN AIQAFGNGTD VNVSPKGPSF QATQAPRVEK TPSLPDDLSD STSLGTSVIT TCTSVQEQGL KANNSKELSM CFTELTTNII PGSNKVIKPN SGPSRARPSA ALTVLSVLML KLAL //