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Q8WXD0

- RXFP2_HUMAN

UniProt

Q8WXD0 - RXFP2_HUMAN

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Protein

Relaxin receptor 2

Gene

RXFP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 416416ExtracellularSequence AnalysisAdd
BLAST
Transmembranei417 – 43721Helical; Name=1Sequence AnalysisAdd
BLAST
Topological domaini438 – 45518CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei456 – 47621Helical; Name=2Sequence AnalysisAdd
BLAST
Topological domaini477 – 49519ExtracellularSequence AnalysisAdd
BLAST
Transmembranei496 – 51823Helical; Name=3Sequence AnalysisAdd
BLAST
Topological domaini519 – 53719CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei538 – 55821Helical; Name=4Sequence AnalysisAdd
BLAST
Topological domaini559 – 59234ExtracellularSequence AnalysisAdd
BLAST
Transmembranei593 – 61321Helical; Name=5Sequence AnalysisAdd
BLAST
Topological domaini614 – 63926CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei640 – 66021Helical; Name=6Sequence AnalysisAdd
BLAST
Topological domaini661 – 67010ExtracellularSequence Analysis
Transmembranei671 – 69121Helical; Name=7Sequence AnalysisAdd
BLAST
Topological domaini692 – 75463CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

Secondary structure

1
754
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi61 – 633Combined sources
Beta strandi70 – 756Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M96NMR-A38-81[»]
ProteinModelPortaliQ8WXD0.
SMRiQ8WXD0. Positions 38-81, 112-706.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00760000119088.
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

        10         20         30         40         50
MIVFLVFKHL FSLRLITMFF LLHFIVLINV KDFALTQGSM ITPSCQKGYF
60 70 80 90 100
PCGNLTKCLP RAFHCDGKDD CGNGADEENC GDTSGWATIF GTVHGNANSV
110 120 130 140 150
ALTQECFLKQ YPQCCDCKET ELECVNGDLK SVPMISNNVT LLSLKKNKIH
160 170 180 190 200
SLPDKVFIKY TKLKKIFLQH NCIRHISRKA FFGLCNLQIL YLNHNCITTL
210 220 230 240 250
RPGIFKDLHQ LTWLILDDNP ITRISQRLFT GLNSLFFLSM VNNYLEALPK
260 270 280 290 300
QMCAQMPQLN WVDLEGNRIK YLTNSTFLSC DSLTVLFLPR NQIGFVPEKT
310 320 330 340 350
FSSLKNLGEL DLSSNTITEL SPHLFKDLKL LQKLNLSSNP LMYLHKNQFE
360 370 380 390 400
SLKQLQSLDL ERIEIPNINT RMFQPMKNLS HIYFKNFRYC SYAPHVRICM
410 420 430 440 450
PLTDGISSFE DLLANNILRI FVWVIAFITC FGNLFVIGMR SFIKAENTTH
460 470 480 490 500
AMSIKILCCA DCLMGVYLFF VGIFDIKYRG QYQKYALLWM ESVQCRLMGF
510 520 530 540 550
LAMLSTEVSV LLLTYLTLEK FLVIVFPFSN IRPGKRQTSV ILICIWMAGF
560 570 580 590 600
LIAVIPFWNK DYFGNFYGKN GVCFPLYYDQ TEDIGSKGYS LGIFLGVNLL
610 620 630 640 650
AFLIIVFSYI TMFCSIQKTA LQTTEVRNCF GREVAVANRF FFIVFSDAIC
660 670 680 690 700
WIPVFVVKIL SLFRVEIPDT MTSWIVIFFL PVNSALNPIL YTLTTNFFKD
710 720 730 740 750
KLKQLLHKHQ RKSIFKIKKK SLSTSIVWIE DSSSLKLGVL NKITLGDSIM

KPVS
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2M96 NMR - A 38-81 [» ]
ProteinModelPortali Q8WXD0.
SMRi Q8WXD0. Positions 38-81, 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.
GeneTreei ENSGT00760000119088.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 132 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