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O00451

- GFRA2_HUMAN

UniProt

O00451 - GFRA2_HUMAN

Protein

GDNF family receptor alpha-2

Gene

GFRA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 2 (31 Oct 2006)
      Previous versions | rss
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    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.

    GO - Molecular functioni

    1. glial cell-derived neurotrophic factor receptor activity Source: ProtInc

    GO - Biological processi

    1. negative regulation of protein autophosphorylation Source: Ensembl
    2. nervous system development Source: Ensembl
    3. transmembrane receptor protein tyrosine kinase signaling pathway Source: ProtInc

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_18312. NCAM1 interactions.

    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
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:4244. GFRA2.

    Subcellular locationi

    Cell membrane By similarity; Lipid-anchorGPI-anchor By similarity

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. extrinsic component of membrane Source: ProtInc
    3. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28654.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 444423GDNF family receptor alpha-2PRO_0000010785Add
    BLAST
    Propeptidei445 – 46420Removed in mature formSequence AnalysisPRO_0000010786Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi357 – 3571N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi413 – 4131N-linked (GlcNAc...)Sequence Analysis
    Lipidationi444 – 4441GPI-anchor amidated serineSequence Analysis

    Keywords - PTMi

    Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    PaxDbiO00451.
    PRIDEiO00451.

    Expressioni

    Tissue specificityi

    Isoform 1 is found in both brain and placenta.

    Gene expression databases

    ArrayExpressiO00451.
    BgeeiO00451.
    CleanExiHS_GFRA2.
    GenevestigatoriO00451.

    Organism-specific databases

    HPAiHPA024704.

    Interactioni

    Protein-protein interaction databases

    BioGridi108943. 3 interactions.
    STRINGi9606.ENSP00000306654.

    Structurei

    3D structure databases

    ProteinModelPortaliO00451.
    SMRiO00451. Positions 157-359.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the GDNFR family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG78285.
    HOVERGENiHBG051725.
    InParanoidiO00451.
    OMAiNSGPCRA.
    OrthoDBiEOG7FBRJ3.
    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. Align

    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

    MILANVFCLF FFLDETLRSL ASPSSLQGPE LHGWRPPVDC VRANELCAAE    50
    SNCSSRYRTL RQCLAGRDRN TMLANKECQA ALEVLQESPL YDCRCKRGMK 100
    KELQCLQIYW SIHLGLTEGE EFYEASPYEP VTSRLSDIFR LASIFSGTGA 150
    DPVVSAKSNH CLDAAKACNL NDNCKKLRSS YISICNREIS PTERCNRRKC 200
    HKALRQFFDR VPSEYTYRML FCSCQDQACA ERRRQTILPS CSYEDKEKPN 250
    CLDLRGVCRT DHLCRSRLAD FHANCRASYQ TVTSCPADNY QACLGSYAGM 300
    IGFDMTPNYV DSSPTGIVVS PWCSCRGSGN MEEECEKFLR DFTENPCLRN 350
    AIQAFGNGTD VNVSPKGPSF QATQAPRVEK TPSLPDDLSD STSLGTSVIT 400
    TCTSVQEQGL KANNSKELSM CFTELTTNII PGSNKVIKPN SGPSRARPSA 450
    ALTVLSVLML KLAL 464
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti6 – 61V → A in AAB61922. (PubMed:9259272)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti462 – 4621L → Q.3 Publications
    Corresponds to variant rs1128397 [ dbSNP | Ensembl ].
    VAR_059976

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei14 – 146133Missing in isoform 2. 2 PublicationsVSP_001661Add
    BLAST
    Alternative sequencei14 – 118105Missing in isoform 3. 1 PublicationVSP_046112Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005273530.1. XM_005273473.1. [O00451-1]
    XP_006716389.1. XM_006716326.1. [O00451-1]
    XP_006716390.1. XM_006716327.1. [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.1. human. [O00451-1]
    uc003wzv.1. human.
    uc003wzw.1. human. [O00451-2]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS47816.1. [O00451-1 ]
    CCDS55207.1. [O00451-2 ]
    CCDS55208.1. [O00451-3 ]
    RefSeqi NP_001158510.1. NM_001165038.1. [O00451-3 ]
    NP_001158511.1. NM_001165039.1. [O00451-2 ]
    NP_001486.4. NM_001495.4. [O00451-1 ]
    XP_005273530.1. XM_005273473.1. [O00451-1 ]
    XP_006716389.1. XM_006716326.1. [O00451-1 ]
    XP_006716390.1. XM_006716327.1. [O00451-1 ]
    UniGenei Hs.441202.

    3D structure databases

    ProteinModelPortali O00451.
    SMRi O00451. Positions 157-359.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108943. 3 interactions.
    STRINGi 9606.ENSP00000306654.

    Proteomic databases

    PaxDbi O00451.
    PRIDEi O00451.

    Protocols and materials databases

    DNASUi 2675.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000517328 ; ENSP00000429445 ; ENSG00000168546 . [O00451-1 ]
    ENST00000517892 ; ENSP00000429979 ; ENSG00000168546 . [O00451-3 ]
    ENST00000518077 ; ENSP00000429206 ; ENSG00000168546 . [O00451-2 ]
    ENST00000524240 ; ENSP00000428518 ; ENSG00000168546 . [O00451-1 ]
    GeneIDi 2675.
    KEGGi hsa:2675.
    UCSCi uc003wzu.1. human. [O00451-1 ]
    uc003wzv.1. human.
    uc003wzw.1. human. [O00451-2 ]

    Organism-specific databases

    CTDi 2675.
    GeneCardsi GC08M021593.
    HGNCi HGNC:4244. GFRA2.
    HPAi HPA024704.
    MIMi 601956. gene.
    neXtProti NX_O00451.
    PharmGKBi PA28654.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78285.
    HOVERGENi HBG051725.
    InParanoidi O00451.
    OMAi NSGPCRA.
    OrthoDBi EOG7FBRJ3.
    PhylomeDBi O00451.
    TreeFami TF331647.

    Enzyme and pathway databases

    Reactomei REACT_18312. NCAM1 interactions.

    Miscellaneous databases

    GeneWikii GFRA2_(gene).
    GenomeRNAii 2675.
    NextBioi 10560.
    PROi O00451.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00451.
    Bgeei O00451.
    CleanExi HS_GFRA2.
    Genevestigatori O00451.

    Family and domain databases

    InterProi IPR016017. GDNF/GAS1.
    IPR003438. GDNF_rcpt.
    IPR003504. GDNF_rcpt_a2.
    IPR017372. Glial_neurotroph_fac_rcpt_a1/2.
    [Graphical view ]
    Pfami PF02351. GDNF. 3 hits.
    [Graphical view ]
    PIRSFi PIRSF038071. GDNF_family_receptor_alpha. 1 hit.
    PRINTSi PR01318. GDNFRALPHA2.
    PR01316. GDNFRECEPTOR.
    SMARTi SM00907. GDNF. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liver.
    4. Yoong L.F., Too H.P.
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), VARIANT GLN-462.
    5. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.

    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: October 1, 2014
    This is version 123 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

    External Data

    Dasty 3