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O00451

- GFRA2_HUMAN

UniProt

O00451 - GFRA2_HUMAN

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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

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
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiO00451.
CleanExiHS_GFRA2.
ExpressionAtlasiO00451. baseline and differential.
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.
GeneTreeiENSGT00550000074579.
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

        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)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]
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 ]
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 GC08M021547.
HGNCi HGNC:4244. GFRA2.
HPAi HPA024704.
MIMi 601956. gene.
neXtProti NX_O00451.
PharmGKBi PA28654.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG78285.
GeneTreei ENSGT00550000074579.
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

Bgeei O00451.
CleanExi HS_GFRA2.
ExpressionAtlasi O00451. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 124 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