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Q8WXD0 (RXFP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:RXFP2
Synonyms:GPR106, GREAT, LGR8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length754 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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).

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Sequence similarities

Belongs to the G-protein coupled receptor 1 family.

Contains 1 LDL-receptor class A domain.

Contains 10 LRR (leucine-rich) repeats.

Caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WXD0-1)

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.
Isoform 2 (identifier: Q8WXD0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     286-309: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 754754Relaxin receptor 2
PRO_0000069702

Regions

Topological domain1 – 416416Extracellular Potential
Transmembrane417 – 43721Helical; Name=1; Potential
Topological domain438 – 45518Cytoplasmic Potential
Transmembrane456 – 47621Helical; Name=2; Potential
Topological domain477 – 49519Extracellular Potential
Transmembrane496 – 51823Helical; Name=3; Potential
Topological domain519 – 53719Cytoplasmic Potential
Transmembrane538 – 55821Helical; Name=4; Potential
Topological domain559 – 59234Extracellular Potential
Transmembrane593 – 61321Helical; Name=5; Potential
Topological domain614 – 63926Cytoplasmic Potential
Transmembrane640 – 66021Helical; Name=6; Potential
Topological domain661 – 67010Extracellular Potential
Transmembrane671 – 69121Helical; Name=7; Potential
Topological domain692 – 75463Cytoplasmic Potential
Domain44 – 8138LDL-receptor class A
Repeat138 – 15922LRR 1
Repeat162 – 18322LRR 2
Repeat186 – 20722LRR 3
Repeat210 – 23122LRR 4
Repeat234 – 25522LRR 5
Repeat258 – 27922LRR 6
Repeat282 – 30322LRR 7
Repeat306 – 32722LRR 8
Repeat330 – 35122LRR 9
Repeat354 – 37522LRR 10

Amino acid modifications

Glycosylation541N-linked (GlcNAc...) Potential
Glycosylation1381N-linked (GlcNAc...) Potential
Glycosylation2741N-linked (GlcNAc...) Potential
Glycosylation3351N-linked (GlcNAc...) Potential
Glycosylation3781N-linked (GlcNAc...) Potential
Disulfide bond45 ↔ 58 By similarity
Disulfide bond52 ↔ 71 By similarity
Disulfide bond65 ↔ 80 By similarity
Disulfide bond495 ↔ 573 By similarity

Natural variations

Alternative sequence286 – 30924Missing in isoform 2.
VSP_042831
Natural variant2221T → P in CRYPTO; functionally inactive. Ref.2
Corresponds to variant rs28939382 [ dbSNP | Ensembl ].
VAR_015386
Natural variant6041I → V. Ref.2
Corresponds to variant rs17076657 [ dbSNP | Ensembl ].
VAR_015387

Experimental info

Mutagenesis6471D → Y: Leads to constitutive increase of basal cAMP. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2002. Version 1.
Checksum: 2088ECD204C6A6C5

FASTA75486,453
        10         20         30         40         50         60 
MIVFLVFKHL FSLRLITMFF LLHFIVLINV KDFALTQGSM ITPSCQKGYF PCGNLTKCLP 

        70         80         90        100        110        120 
RAFHCDGKDD CGNGADEENC GDTSGWATIF GTVHGNANSV ALTQECFLKQ YPQCCDCKET 

       130        140        150        160        170        180 
ELECVNGDLK SVPMISNNVT LLSLKKNKIH SLPDKVFIKY TKLKKIFLQH NCIRHISRKA 

       190        200        210        220        230        240 
FFGLCNLQIL YLNHNCITTL RPGIFKDLHQ LTWLILDDNP ITRISQRLFT GLNSLFFLSM 

       250        260        270        280        290        300 
VNNYLEALPK QMCAQMPQLN WVDLEGNRIK YLTNSTFLSC DSLTVLFLPR NQIGFVPEKT 

       310        320        330        340        350        360 
FSSLKNLGEL DLSSNTITEL SPHLFKDLKL LQKLNLSSNP LMYLHKNQFE SLKQLQSLDL 

       370        380        390        400        410        420 
ERIEIPNINT RMFQPMKNLS HIYFKNFRYC SYAPHVRICM PLTDGISSFE DLLANNILRI 

       430        440        450        460        470        480 
FVWVIAFITC FGNLFVIGMR SFIKAENTTH AMSIKILCCA DCLMGVYLFF VGIFDIKYRG 

       490        500        510        520        530        540 
QYQKYALLWM ESVQCRLMGF LAMLSTEVSV LLLTYLTLEK FLVIVFPFSN IRPGKRQTSV 

       550        560        570        580        590        600 
ILICIWMAGF LIAVIPFWNK DYFGNFYGKN GVCFPLYYDQ TEDIGSKGYS LGIFLGVNLL 

       610        620        630        640        650        660 
AFLIIVFSYI TMFCSIQKTA LQTTEVRNCF GREVAVANRF FFIVFSDAIC WIPVFVVKIL 

       670        680        690        700        710        720 
SLFRVEIPDT MTSWIVIFFL PVNSALNPIL YTLTTNFFKD KLKQLLHKHQ RKSIFKIKKK 

       730        740        750 
SLSTSIVWIE DSSSLKLGVL NKITLGDSIM KPVS 

« Hide

Isoform 2 [UniParc].

Checksum: 36274984AF9314E9
Show »

FASTA73083,736

References

« Hide 'large scale' references
[1]"Activation of orphan receptors by the hormone relaxin."
Hsu S.Y., Nakabayashi K., Nishi S., Kumagai J., Kudo M., Sherwood O.D., Hsueh A.J.W.
Science 295:671-674(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), MUTAGENESIS OF ASP-647.
[2]"Mutations of the GREAT gene cause cryptorchidism."
Gorlov I.P., Kamat A., Bogatcheva N.V., Jones E., Lamb D.J., Truong A., Bishop C.E., McElreavey K., Agoulnik A.I.
Hum. Mol. Genet. 11:2309-2318(2002) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001159530.1. NM_001166058.1.
NP_570718.1. NM_130806.3.
UniGeneHs.680763.

3D structure databases

ProteinModelPortalQ8WXD0.
SMRQ8WXD0. Positions 45-81, 112-706.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125757. 1 interaction.
STRING9606.ENSP00000298386.

Chemistry

ChEMBLCHEMBL1628482.
GuidetoPHARMACOLOGY352.

Protein family/group databases

GPCRDBSearch...

PTM databases

PhosphoSiteQ8WXD0.

Polymorphism databases

DMDM21362625.

Proteomic databases

PaxDbQ8WXD0.
PRIDEQ8WXD0.

Protocols and materials databases

DNASU122042.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298386; ENSP00000298386; ENSG00000133105. [Q8WXD0-1]
ENST00000380314; ENSP00000369670; ENSG00000133105. [Q8WXD0-2]
GeneID122042.
KEGGhsa:122042.
UCSCuc001utt.3. human. [Q8WXD0-1]
uc010aba.3. human. [Q8WXD0-2]

Organism-specific databases

CTD122042.
GeneCardsGC13P032313.
HGNCHGNC:17318. RXFP2.
MIM219050. phenotype.
606655. gene.
neXtProtNX_Q8WXD0.
PharmGKBPA134918556.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOGENOMHOG000049056.
HOVERGENHBG026354.
InParanoidQ8WXD0.
KOK04307.
OMAKILCCAD.
OrthoDBEOG77DJ5W.
PhylomeDBQ8WXD0.
TreeFamTF326185.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

BgeeQ8WXD0.
CleanExHS_RXFP2.
GenevestigatorQ8WXD0.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
4.10.400.10. 1 hit.
InterProIPR000276. 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]
PfamPF00001. 7tm_1. 1 hit.
PF00057. Ldl_recept_a. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR01739. RELAXINR.
SMARTSM00192. LDLa. 1 hit.
SM00369. LRR_TYP. 2 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMSSF57424. SSF57424. 1 hit.
PROSITEPS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
PS01209. LDLRA_1. 1 hit.
PS50068. LDLRA_2. 1 hit.
PS51450. LRR. 9 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRelaxin/insulin-like_family_peptide_receptor_2.
GenomeRNAi122042.
NextBio80847.
PROQ8WXD0.
SOURCESearch...

Entry information

Entry nameRXFP2_HUMAN
AccessionPrimary (citable) accession number: Q8WXD0
Secondary accession number(s): B1ALE9, Q3KU23
Entry history
Integrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: March 1, 2002
Last modified: April 16, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries