Human Gene RXFP2 (ENST00000298386.7_5) from GENCODE V47lift37
  Description: relaxin family peptide receptor 2, transcript variant 1 (from RefSeq NM_130806.5)
Gencode Transcript: ENST00000298386.7_5
Gencode Gene: ENSG00000133105.8_8
Transcript (Including UTRs)
   Position: hg19 chr13:32,313,663-32,377,526 Size: 63,864 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr13:32,313,750-32,376,542 Size: 62,793 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:32,313,663-32,377,526)mRNA (may differ from genome)Protein (754 aa)
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-  Comments and Description Text from UniProtKB
  ID: RXFP2_HUMAN
DESCRIPTION: RecName: Full=Relaxin receptor 2; AltName: Full=G-protein coupled receptor 106; AltName: Full=G-protein coupled receptor affecting testicular descent; AltName: Full=Leucine-rich repeat-containing G-protein coupled receptor 8; AltName: Full=Relaxin family peptide receptor 2;
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.
DISEASE: Defects in RXFP2 are a cause of cryptorchidism (CRYPTO) [MIM:219050]; also known as impaired testicular descent. It is 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.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
SIMILARITY: Contains 1 LDL-receptor class A domain.
SIMILARITY: Contains 10 LRR (leucine-rich) repeats.
CAUTION: It is uncertain whether Met-1 or Met-18 is the initiator.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RXFP2
Diseases sorted by gene-association score: cryptorchidism* (184), testicular cancer (12), anorchia (8), infertility (6), physical disorder (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.35 RPKM in Fallopian Tube
Total median expression: 1.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.5087-0.190 Picture PostScript Text
3' UTR -248.20984-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
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

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)
PF00057 - Low-density lipoprotein receptor domain class A
PF13306 - BspA type Leucine rich repeat region (6 copies)
PF13855 - Leucine rich repeat

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
81321 - Family A G protein-coupled receptor-like
90123 - ABC transporter transmembrane region
57424 - LDL receptor-like module

ModBase Predicted Comparative 3D Structure on Q8WXD0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0016500 protein-hormone receptor activity
GO:0017046 peptide hormone binding

Biological Process:
GO:0001556 oocyte maturation
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
GO:0008285 negative regulation of cell proliferation
GO:0008584 male gonad development
GO:0043066 negative regulation of apoptotic process
GO:0043950 positive regulation of cAMP-mediated signaling

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AF453828 - Homo sapiens G protein-coupled receptor affecting testicular descent (GREAT) mRNA, complete cds.
AF403384 - Homo sapiens LGR8 mRNA, complete cds.
AB527208 - Synthetic construct DNA, clone: pF1KE0367, Homo sapiens RXFP2 gene for relaxin/insulin-like family peptide receptor 2, without stop codon, in Flexi system.
BC146279 - Synthetic construct Homo sapiens clone IMAGE:100015252, MGC:180268 relaxin/insulin-like family peptide receptor 2 (RXFP2) mRNA, encodes complete protein.
BC148729 - Synthetic construct Homo sapiens clone IMAGE:100015769, MGC:183167 relaxin/insulin-like family peptide receptor 2 (RXFP2) mRNA, encodes complete protein.
AY899851 - Homo sapiens LGR8.1 mRNA, complete cds, alternatively spliced.
JD036770 - Sequence 17794 from Patent EP1572962.
JD077077 - Sequence 58101 from Patent EP1572962.
JD098180 - Sequence 79204 from Patent EP1572962.
JD256111 - Sequence 237135 from Patent EP1572962.
JD489552 - Sequence 470576 from Patent EP1572962.
JD494664 - Sequence 475688 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WXD0 (Reactome details) participates in the following event(s):

R-HSA-444879 Relaxin receptor 2 binds relaxin 2 and INSL3
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-444821 Relaxin receptors
R-HSA-418555 G alpha (s) signalling events
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B1ALE9, ENST00000298386.1, ENST00000298386.2, ENST00000298386.3, ENST00000298386.4, ENST00000298386.5, ENST00000298386.6, GPR106, GREAT, LGR8, NM_130806, Q3KU23, Q8WXD0, RXFP2_HUMAN, uc317mej.1, uc317mej.2
UCSC ID: ENST00000298386.7_5
RefSeq Accession: NM_130806.5
Protein: Q8WXD0 (aka RXFP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.