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Q8WXD0

- RXFP2_HUMAN

UniProt

Q8WXD0 - RXFP2_HUMAN

Protein

Relaxin receptor 2

Gene

RXFP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Mar 2002)
      Previous versions | rss
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    Functioni

    Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3).

    GO - Molecular functioni

    1. peptide hormone binding Source: Ensembl
    2. protein-hormone receptor activity Source: Ensembl

    GO - Biological processi

    1. adenylate cyclase-activating G-protein coupled receptor signaling pathway Source: Ensembl
    2. adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway Source: Ensembl
    3. male gonad development Source: Ensembl
    4. negative regulation of apoptotic process Source: Ensembl
    5. negative regulation of cell proliferation Source: Ensembl
    6. oocyte maturation Source: Ensembl
    7. positive regulation of cAMP biosynthetic process Source: Ensembl

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_19327. G alpha (s) signalling events.
    REACT_21314. Relaxin receptors.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Relaxin receptor 2
    Alternative name(s):
    G-protein coupled receptor 106
    G-protein coupled receptor affecting testicular descent
    Leucine-rich repeat-containing G-protein coupled receptor 8
    Relaxin family peptide receptor 2
    Gene namesi
    Name:RXFP2
    Synonyms:GPR106, GREAT, LGR8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:17318. RXFP2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cryptorchidism (CRYPTO) [MIM:219050]: One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221T → P in CRYPTO; functionally inactive. 1 Publication
    Corresponds to variant rs28939382 [ dbSNP | Ensembl ].
    VAR_015386

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi647 – 6471D → Y: Leads to constitutive increase of basal cAMP. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi219050. phenotype.
    PharmGKBiPA134918556.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 754754Relaxin receptor 2PRO_0000069702Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi45 ↔ 58By similarity
    Disulfide bondi52 ↔ 71By similarity
    Glycosylationi54 – 541N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi65 ↔ 80By similarity
    Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi274 – 2741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi335 – 3351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi378 – 3781N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi495 ↔ 573By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8WXD0.
    PRIDEiQ8WXD0.

    PTM databases

    PhosphoSiteiQ8WXD0.

    Expressioni

    Tissue specificityi

    Expressed mainly in the brain, kidney, muscle, testis, thyroid, uterus, peripheral blood cells and bone marrow.

    Gene expression databases

    BgeeiQ8WXD0.
    CleanExiHS_RXFP2.
    GenevestigatoriQ8WXD0.

    Interactioni

    Protein-protein interaction databases

    BioGridi125757. 1 interaction.
    STRINGi9606.ENSP00000298386.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2M96NMR-A38-81[»]
    ProteinModelPortaliQ8WXD0.
    SMRiQ8WXD0. Positions 45-81, 112-706.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 416416ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini438 – 45518CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini477 – 49519ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini519 – 53719CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini559 – 59234ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini614 – 63926CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini661 – 67010ExtracellularSequence Analysis
    Topological domaini692 – 75463CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei417 – 43721Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei456 – 47621Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei496 – 51823Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei538 – 55821Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei593 – 61321Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei640 – 66021Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei671 – 69121Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini44 – 8138LDL-receptor class APROSITE-ProRule annotationAdd
    BLAST
    Repeati138 – 15922LRR 1Add
    BLAST
    Repeati162 – 18322LRR 2Add
    BLAST
    Repeati186 – 20722LRR 3Add
    BLAST
    Repeati210 – 23122LRR 4Add
    BLAST
    Repeati234 – 25522LRR 5Add
    BLAST
    Repeati258 – 27922LRR 6Add
    BLAST
    Repeati282 – 30322LRR 7Add
    BLAST
    Repeati306 – 32722LRR 8Add
    BLAST
    Repeati330 – 35122LRR 9Add
    BLAST
    Repeati354 – 37522LRR 10Add
    BLAST

    Sequence similaritiesi

    Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation
    Contains 1 LDL-receptor class A domain.PROSITE-ProRule annotation
    Contains 10 LRR (leucine-rich) repeats.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG4886.
    HOGENOMiHOG000049056.
    HOVERGENiHBG026354.
    InParanoidiQ8WXD0.
    KOiK04307.
    OMAiKILCCAD.
    OrthoDBiEOG77DJ5W.
    PhylomeDBiQ8WXD0.
    TreeFamiTF326185.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    4.10.400.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    IPR008112. Relaxin_rcpt.
    [Graphical view]
    PfamiPF00001. 7tm_1. 1 hit.
    PF00057. Ldl_recept_a. 1 hit.
    PF13855. LRR_8. 2 hits.
    [Graphical view]
    PRINTSiPR00237. GPCRRHODOPSN.
    PR01739. RELAXINR.
    SMARTiSM00192. LDLa. 1 hit.
    SM00369. LRR_TYP. 2 hits.
    SM00013. LRRNT. 1 hit.
    [Graphical view]
    SUPFAMiSSF57424. SSF57424. 1 hit.
    PROSITEiPS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS01209. LDLRA_1. 1 hit.
    PS50068. LDLRA_2. 1 hit.
    PS51450. LRR. 9 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8WXD0-1) [UniParc]FASTAAdd to Basket

    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

    MIVFLVFKHL FSLRLITMFF LLHFIVLINV KDFALTQGSM ITPSCQKGYF    50
    PCGNLTKCLP RAFHCDGKDD CGNGADEENC GDTSGWATIF GTVHGNANSV 100
    ALTQECFLKQ YPQCCDCKET ELECVNGDLK SVPMISNNVT LLSLKKNKIH 150
    SLPDKVFIKY TKLKKIFLQH NCIRHISRKA FFGLCNLQIL YLNHNCITTL 200
    RPGIFKDLHQ LTWLILDDNP ITRISQRLFT GLNSLFFLSM VNNYLEALPK 250
    QMCAQMPQLN WVDLEGNRIK YLTNSTFLSC DSLTVLFLPR NQIGFVPEKT 300
    FSSLKNLGEL DLSSNTITEL SPHLFKDLKL LQKLNLSSNP LMYLHKNQFE 350
    SLKQLQSLDL ERIEIPNINT RMFQPMKNLS HIYFKNFRYC SYAPHVRICM 400
    PLTDGISSFE DLLANNILRI FVWVIAFITC FGNLFVIGMR SFIKAENTTH 450
    AMSIKILCCA DCLMGVYLFF VGIFDIKYRG QYQKYALLWM ESVQCRLMGF 500
    LAMLSTEVSV LLLTYLTLEK FLVIVFPFSN IRPGKRQTSV ILICIWMAGF 550
    LIAVIPFWNK DYFGNFYGKN GVCFPLYYDQ TEDIGSKGYS LGIFLGVNLL 600
    AFLIIVFSYI TMFCSIQKTA LQTTEVRNCF GREVAVANRF FFIVFSDAIC 650
    WIPVFVVKIL SLFRVEIPDT MTSWIVIFFL PVNSALNPIL YTLTTNFFKD 700
    KLKQLLHKHQ RKSIFKIKKK SLSTSIVWIE DSSSLKLGVL NKITLGDSIM 750
    KPVS 754
    Length:754
    Mass (Da):86,453
    Last modified:March 1, 2002 - v1
    Checksum:i2088ECD204C6A6C5
    GO
    Isoform 2 (identifier: Q8WXD0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         286-309: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:730
    Mass (Da):83,736
    Checksum:i36274984AF9314E9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221T → P in CRYPTO; functionally inactive. 1 Publication
    Corresponds to variant rs28939382 [ dbSNP | Ensembl ].
    VAR_015386
    Natural varianti604 – 6041I → V.1 Publication
    Corresponds to variant rs17076657 [ dbSNP | Ensembl ].
    VAR_015387

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei286 – 30924Missing in isoform 2. 1 PublicationVSP_042831Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF403384 mRNA. Translation: AAL69324.2.
    AF453828 mRNA. Translation: AAL73946.1.
    AY899851 mRNA. Translation: AAX85199.1.
    AL138708, AL159161 Genomic DNA. Translation: CAH73785.1.
    AL159161, AL138708 Genomic DNA. Translation: CAI17102.1.
    CH471075 Genomic DNA. Translation: EAX08484.1.
    CCDSiCCDS53862.1. [Q8WXD0-2]
    CCDS9342.1. [Q8WXD0-1]
    RefSeqiNP_001159530.1. NM_001166058.1. [Q8WXD0-2]
    NP_570718.1. NM_130806.3. [Q8WXD0-1]
    UniGeneiHs.680763.

    Genome annotation databases

    EnsembliENST00000298386; ENSP00000298386; ENSG00000133105. [Q8WXD0-1]
    ENST00000380314; ENSP00000369670; ENSG00000133105. [Q8WXD0-2]
    GeneIDi122042.
    KEGGihsa:122042.
    UCSCiuc001utt.3. human. [Q8WXD0-1]
    uc010aba.3. human. [Q8WXD0-2]

    Polymorphism databases

    DMDMi21362625.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF403384 mRNA. Translation: AAL69324.2 .
    AF453828 mRNA. Translation: AAL73946.1 .
    AY899851 mRNA. Translation: AAX85199.1 .
    AL138708 , AL159161 Genomic DNA. Translation: CAH73785.1 .
    AL159161 , AL138708 Genomic DNA. Translation: CAI17102.1 .
    CH471075 Genomic DNA. Translation: EAX08484.1 .
    CCDSi CCDS53862.1. [Q8WXD0-2 ]
    CCDS9342.1. [Q8WXD0-1 ]
    RefSeqi NP_001159530.1. NM_001166058.1. [Q8WXD0-2 ]
    NP_570718.1. NM_130806.3. [Q8WXD0-1 ]
    UniGenei Hs.680763.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2M96 NMR - A 38-81 [» ]
    ProteinModelPortali Q8WXD0.
    SMRi Q8WXD0. Positions 45-81, 112-706.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125757. 1 interaction.
    STRINGi 9606.ENSP00000298386.

    Chemistry

    ChEMBLi CHEMBL1628482.
    GuidetoPHARMACOLOGYi 352.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei Q8WXD0.

    Polymorphism databases

    DMDMi 21362625.

    Proteomic databases

    PaxDbi Q8WXD0.
    PRIDEi Q8WXD0.

    Protocols and materials databases

    DNASUi 122042.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298386 ; ENSP00000298386 ; ENSG00000133105 . [Q8WXD0-1 ]
    ENST00000380314 ; ENSP00000369670 ; ENSG00000133105 . [Q8WXD0-2 ]
    GeneIDi 122042.
    KEGGi hsa:122042.
    UCSCi uc001utt.3. human. [Q8WXD0-1 ]
    uc010aba.3. human. [Q8WXD0-2 ]

    Organism-specific databases

    CTDi 122042.
    GeneCardsi GC13P032313.
    HGNCi HGNC:17318. RXFP2.
    MIMi 219050. phenotype.
    606655. gene.
    neXtProti NX_Q8WXD0.
    PharmGKBi PA134918556.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    HOGENOMi HOG000049056.
    HOVERGENi HBG026354.
    InParanoidi Q8WXD0.
    KOi K04307.
    OMAi KILCCAD.
    OrthoDBi EOG77DJ5W.
    PhylomeDBi Q8WXD0.
    TreeFami TF326185.

    Enzyme and pathway databases

    Reactomei REACT_19327. G alpha (s) signalling events.
    REACT_21314. Relaxin receptors.

    Miscellaneous databases

    GeneWikii Relaxin/insulin-like_family_peptide_receptor_2.
    GenomeRNAii 122042.
    NextBioi 80847.
    PROi Q8WXD0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8WXD0.
    CleanExi HS_RXFP2.
    Genevestigatori Q8WXD0.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    4.10.400.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    IPR001611. Leu-rich_rpt.
    IPR003591. Leu-rich_rpt_typical-subtyp.
    IPR000372. LRR-contain_N.
    IPR008112. Relaxin_rcpt.
    [Graphical view ]
    Pfami PF00001. 7tm_1. 1 hit.
    PF00057. Ldl_recept_a. 1 hit.
    PF13855. LRR_8. 2 hits.
    [Graphical view ]
    PRINTSi PR00237. GPCRRHODOPSN.
    PR01739. RELAXINR.
    SMARTi SM00192. LDLa. 1 hit.
    SM00369. LRR_TYP. 2 hits.
    SM00013. LRRNT. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57424. SSF57424. 1 hit.
    PROSITEi PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    PS01209. LDLRA_1. 1 hit.
    PS50068. LDLRA_2. 1 hit.
    PS51450. LRR. 9 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MUTAGENESIS OF ASP-647.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CRYPTO PRO-222, VARIANT VAL-604.
    3. "Splice variants of the relaxin and INSL3 receptors reveal unanticipated molecular complexity."
      Muda M., He C., Martini P.G.V., Ferraro T., Layfield S., Taylor D., Chevrier C., Schweickhardt R., Kelton C., Ryan P.L., Bathgate R.A.D.
      Mol. Hum. Reprod. 11:591-600(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    4. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiRXFP2_HUMAN
    AccessioniPrimary (citable) accession number: Q8WXD0
    Secondary accession number(s): B1ALE9, Q3KU23
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 6, 2002
    Last sequence update: March 1, 2002
    Last modified: October 1, 2014
    This is version 131 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3