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Protein

Relaxin receptor 2

Gene

RXFP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).

Caution

It is uncertain whether Met-1 or Met-18 is the initiator.Curated

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiR-HSA-418555 G alpha (s) signalling events
R-HSA-444821 Relaxin receptors
SIGNORiQ8WXD0

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
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000133105.7
HGNCiHGNC:17318 RXFP2
MIMi606655 gene
neXtProtiNX_Q8WXD0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 416ExtracellularSequence analysisAdd BLAST416
Transmembranei417 – 437Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini438 – 455CytoplasmicSequence analysisAdd BLAST18
Transmembranei456 – 476Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini477 – 495ExtracellularSequence analysisAdd BLAST19
Transmembranei496 – 518Helical; Name=3Sequence analysisAdd BLAST23
Topological domaini519 – 537CytoplasmicSequence analysisAdd BLAST19
Transmembranei538 – 558Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini559 – 592ExtracellularSequence analysisAdd BLAST34
Transmembranei593 – 613Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini614 – 639CytoplasmicSequence analysisAdd BLAST26
Transmembranei640 – 660Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini661 – 670ExtracellularSequence analysis10
Transmembranei671 – 691Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini692 – 754CytoplasmicSequence analysisAdd BLAST63

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cryptorchidism (CRYPTO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionOne 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.
See also OMIM:219050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015386222T → P in CRYPTO; functionally inactive. 1 PublicationCorresponds to variant dbSNP:rs121918303EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi647D → Y: Leads to constitutive increase of basal cAMP. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi122042
MalaCardsiRXFP2
MIMi219050 phenotype
OpenTargetsiENSG00000133105
PharmGKBiPA134918556

Chemistry databases

ChEMBLiCHEMBL1628482
GuidetoPHARMACOLOGYi352

Polymorphism and mutation databases

BioMutaiRXFP2
DMDMi21362625

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000697021 – 754Relaxin receptor 2Add BLAST754

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi45 ↔ 58By similarity
Disulfide bondi52 ↔ 71By similarity
Glycosylationi54N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi65 ↔ 80By similarity
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi274N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi335N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi378N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi495 ↔ 573By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ8WXD0
PaxDbiQ8WXD0
PeptideAtlasiQ8WXD0
PRIDEiQ8WXD0

PTM databases

iPTMnetiQ8WXD0
PhosphoSitePlusiQ8WXD0

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000133105
CleanExiHS_RXFP2
GenevisibleiQ8WXD0 HS

Interactioni

Protein-protein interaction databases

BioGridi125757, 1 interactor
STRINGi9606.ENSP00000298386

Structurei

Secondary structure

1754
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi61 – 63Combined sources3
Beta strandi70 – 75Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2M96NMR-A38-81[»]
ProteinModelPortaliQ8WXD0
SMRiQ8WXD0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 81LDL-receptor class APROSITE-ProRule annotationAdd BLAST38
Repeati138 – 159LRR 1Add BLAST22
Repeati162 – 183LRR 2Add BLAST22
Repeati186 – 207LRR 3Add BLAST22
Repeati210 – 231LRR 4Add BLAST22
Repeati234 – 255LRR 5Add BLAST22
Repeati258 – 279LRR 6Add BLAST22
Repeati282 – 303LRR 7Add BLAST22
Repeati306 – 327LRR 8Add BLAST22
Repeati330 – 351LRR 9Add BLAST22
Repeati354 – 375LRR 10Add BLAST22

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Leucine-rich repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0619 Eukaryota
KOG2087 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00760000119088
HOGENOMiHOG000049056
HOVERGENiHBG026354
InParanoidiQ8WXD0
KOiK04307
OMAiRLITMFF
OrthoDBiEOG091G01UA
PhylomeDBiQ8WXD0
TreeFamiTF326185

Family and domain databases

CDDicd00112 LDLa, 1 hit
Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR008112 Relaxin_rcpt
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PF00057 Ldl_recept_a, 1 hit
PF13855 LRR_8, 3 hits
PRINTSiPR00237 GPCRRHODOPSN
PR01739 RELAXINR
SMARTiView protein in SMART
SM00192 LDLa, 1 hit
SM00369 LRR_TYP, 10 hits
SUPFAMiSSF57424 SSF57424, 1 hit
PROSITEiView protein in PROSITE
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit
PS01209 LDLRA_1, 1 hit
PS50068 LDLRA_2, 1 hit
PS51450 LRR, 9 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_015386222T → P in CRYPTO; functionally inactive. 1 PublicationCorresponds to variant dbSNP:rs121918303EnsemblClinVar.1
Natural variantiVAR_015387604I → V1 PublicationCorresponds to variant dbSNP:rs17076657Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042831286 – 309Missing in isoform 2. 1 PublicationAdd BLAST24

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 Genomic DNA No translation available.
AL159161 Genomic DNA No translation available.
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_130806.4 [Q8WXD0-1]
UniGeneiHs.680763

Genome annotation databases

EnsembliENST00000298386; ENSP00000298386; ENSG00000133105 [Q8WXD0-1]
ENST00000380314; ENSP00000369670; ENSG00000133105 [Q8WXD0-2]
GeneIDi122042
KEGGihsa:122042
UCSCiuc001utt.4 human [Q8WXD0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRXFP2_HUMAN
AccessioniPrimary (citable) accession number: Q8WXD0
Secondary accession number(s): B1ALE9, Q3KU23
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: March 1, 2002
Last modified: May 23, 2018
This is version 160 of the entry and version 1 of the sequence. See 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

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