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RXFP2 Gene

protein-coding   GIFtS: 57
GCID: GC13P032313

Relaxin/Insulin-Like Family Peptide Receptor 2

(Previous name: leucine-rich repeat-containing G protein-coupled receptor...)
(Previous symbol: LGR8)
  See RXFP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Relaxin/Insulin-Like Family Peptide Receptor 21 2     G-Protein Coupled Receptor 1062 3
LGR81 2 3 5     G-Protein Coupled Receptor Affecting Testicular Descent2 3
GREAT2 3 5     INSL3R2
Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 81 2     LGR8.12
Leucine-Rich Repeat-Containing G-Protein Coupled Receptor 82 3     RXFPR22
Relaxin Family Peptide Receptor 22 3     G Protein Coupled Receptor Affecting Testicular Descent2
GPR1062 3     Relaxin Receptor 22

External Ids:    HGNC: 173181   Entrez Gene: 1220422   Ensembl: ENSG000001331057   OMIM: 6066555   UniProtKB: Q8WXD03   

Export aliases for RXFP2 gene to outside databases

Previous GC identifers: GC13P031212 GC13P013124


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RXFP2 Gene:
This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this
gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms
have been found for this gene.(provided by RefSeq, Oct 2009)

GeneCards Summary for RXFP2 Gene:
RXFP2 (relaxin/insulin-like family peptide receptor 2) is a protein-coding gene. Diseases associated with RXFP2 include cryptorchidism, and anorchia. GO annotations related to this gene include protein-hormone receptor activity and peptide hormone binding. An important paralog of this gene is LHCGR.

UniProtKB/Swiss-Prot: RXFP2_HUMAN, Q8WXD0
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)

Gene Wiki entry for RXFP2 (Relaxin/insulin-like family peptide receptor 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the RXFP2 gene promoter:
         GR   HOXA3   p53   IRF-1   HNF-1A   POU2F1   POU2F1a   HNF-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRXFP2 promoter sequence
   Search Chromatin IP Primers for RXFP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RXFP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q13.1   Ensembl cytogenetic band:  13q13.1   HGNC cytogenetic band: 13q12.3

RXFP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RXFP2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P032313:  view genomic region     (about GC identifiers)

Start:
32,313,674 bp from pter      End:
32,377,009 bp from pter
Size:
63,336 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RXFP2_HUMAN, Q8WXD0 (See protein sequence)
Recommended Name: Relaxin receptor 2  
Size: 754 amino acids; 86453 Da
Caution: It is uncertain whether Met-1 or Met-18 is the initiator
Secondary accessions: B1ALE9 Q3KU23
Alternative splicing: 2 isoforms:  Q8WXD0-1   Q8WXD0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RXFP2: NX_Q8WXD0

Explore proteomics data for RXFP2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn54, Asn138, Asn274, Asn335, Asn378
  • Modification sites at PhosphoSitePlus

  • See RXFP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159530.1  NP_570718.1  

    ENSEMBL proteins: 
     ENSP00000298386   ENSP00000369670  
    Reactome Protein details: Q8WXD0

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    antibodies-online peptides for RXFP2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RXFP: GPCR / Class A : Relaxin family peptide receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: RXFP2 receptor
    Relaxin family peptide receptors

    Selected InterPro protein domains (see all 8):
     IPR002172 LDrepeatLR_classA_rpt
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000372 LRR-contain_N
     IPR023415 LDLR_class-A_CS
     IPR001611 Leu-rich_rpt

    Graphical View of Domain Structure for InterPro Entry Q8WXD0

    ProtoNet protein and cluster: Q8WXD0

    3 Blocks protein domains:
    IPB000372 Cysteine-rich flanking region
    IPB002172 Low density lipoprotein-receptor
    IPB008112 Relaxin receptor family signature


    UniProtKB/Swiss-Prot: RXFP2_HUMAN, Q8WXD0
    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


    Find genes that share domains with RXFP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RXFP2_HUMAN, Q8WXD0
    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)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004930G-protein coupled receptor activity ----
    GO:0005515protein binding ----
    GO:0016500protein-hormone receptor activity IEA--
    GO:0017046peptide hormone binding IEA--
         
    Find genes that share ontologies with RXFP2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RXFP2:
     Decreased viability with cispl  Increased G1 DNA content 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rxfp2):
     endocrine/exocrine gland  integument  reproductive system  respiratory system  skeleton 
     tumorigenesis 

    Find genes that share phenotypes with RXFP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RXFP2: Rxfp2tm1Lex Rxfp2tm1Aia

       genOway: Develop your customized and physiologically relevant rodent model for RXFP2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RXFP2 (see all 14):
    hsa-miR-301b hsa-miR-22 hsa-miR-148b hsa-miR-301a hsa-miR-3666 hsa-miR-152 hsa-miR-196a hsa-miR-141*
    SwitchGear 3'UTR luciferase reporter plasmidRXFP2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat RXFP2

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RXFP2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RXFP2_HUMAN, Q8WXD0: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with RXFP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RXFP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Neuroactive ligand-receptor interaction0.36
    GPCR ligand binding0.71
    Relaxin receptors0.00
    Peptide ligand-binding receptors0.60
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    4G alpha (s) signalling events
    G alpha (s) signalling events


    Find genes that share SuperPaths with RXFP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RXFP2
        Relaxin Pathway
    Activation of PKC through GPCR

    1 BioSystems Pathway for RXFP2
        Myometrial Relaxation and Contraction Pathways

    2 Reactome Pathways for RXFP2
        Relaxin receptors
    G alpha (s) signalling events


    1 Kegg Pathway  (Kegg details for RXFP2):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Array including RXFP2: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RXFP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RXFP2 (Q8WXD03 ENSP000002983864) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INSL3P514603, ENSP000003217244I2D: score=2 STRING: ENSP00000321724
    RLN2P040903, ENSP000003710404I2D: score=1 STRING: ENSP00000371040
    ADCY1ENSP000002973234STRING: ENSP00000297323
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY6ENSP000003114054STRING: ENSP00000311405
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001556oocyte maturation IEA--
    GO:0007186G-protein coupled receptor signaling pathway ----
    GO:0007189adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA--
    GO:0007193adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA--
    GO:0008285negative regulation of cell proliferation IEA--

    Find genes that share ontologies with RXFP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RXFP2

    1 HMDB Compound for RXFP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Selected IUPHAR Ligands for RXFP2 (RXFP2 receptor) (see all 12)    About this table
    LigandTypeActionAffinityPubmed IDs
    [125I]INSL3 (human)
    AgonistFull agonist1016051677
    INSL3
    AgonistFull agonist9.715649866
    [33P]H2 relaxin
    AgonistFull agonist8.97 - 9.215649866 12506116
    europium-labelled INSL3
    AgonistFull agonist918529069
    H1 relaxin
    AgonistFull agonist8.816411781
    H2 relaxin
    AgonistFull agonist8.315649866
    relaxin
    AgonistFull agonist7.915649866
    relaxin
    AgonistFull agonist7.815649866
    H3 relaxin
    AgonistFull agonist716411781
    (des 1-8) A-chain INSL3 analogue
    AntagonistAntagonist715708846

    3 Novoseek inferred chemical compound relationships for RXFP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclic amp 15.4 1 15708846 (1)
    phosphoinositide 11.5 1 16569707 (1)
    alanine 0.0729 1 18772127 (1)



    Find genes that share compounds with RXFP2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RXFP2 gene (2 alternative transcripts): 
    NM_001166058.1  NM_130806.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298386(uc001utt.3) ENST00000380314(uc010aba.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RXFP2 (see all 14):
    hsa-miR-301b hsa-miR-22 hsa-miR-148b hsa-miR-301a hsa-miR-3666 hsa-miR-152 hsa-miR-196a hsa-miR-141*
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    6 AceView cDNA sequences:

    CN838755 AF453828 CN834140 CN834096 AF403384 NM_130806 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RXFP2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                                                                                                                        
    SP2:                                                                    -                                                   


    ECgene alternative splicing isoforms for RXFP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RXFP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAGAAAC
    RXFP2 Expression
    About this image

    RXFP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RXFP2 Protein Expression

    UniProtKB/Swiss-Prot: RXFP2_HUMAN, Q8WXD0
    Tissue specificity: Expressed mainly in the brain, kidney, muscle, testis, thyroid, uterus, peripheral blood cells
    and bone marrow

        Pathway & Disease-focused RT2 Profiler PCR Array including RXFP2: 
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RXFP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RXFP2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rxfp21 , 5 relaxin/insulin-like family peptide receptor 21, 5 81.88(n)1
    82.02(a)1
      5 (89.23 cM)5
    1404981  NM_080468.21  NP_536716.21 
     1500186755 
    chicken
    (Gallus gallus)
    Aves RXFP26
    relaxin/insulin-like family peptide receptor 2
    53(a)
    1 ↔ 1
    4(578792-590453)
    lizard
    (Anolis carolinensis)
    Reptilia RXFP26
    relaxin/insulin-like family peptide receptor 2
    51(a)
    1 ↔ 1
    GL343465.1(46181-58029)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004916571 relaxin receptor 2-like 70.18(n)
    71.41(a)
      100491657  XM_002934025.2  XP_002934071.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC054930.12   -- 74.72(n)   393415  BC054930.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lgr31 Lgr3 46.01(n)
    38.18(a)
      43098  NM_170236.2  NP_733115.1 


    ENSEMBL Gene Tree for RXFP2 (if available)
    TreeFam Gene Tree for RXFP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RXFP2 gene
    LHCGR2  LGR52  FSHR2  RXFP12  LGR62  TSHR2  LGR42  
    1 SIMAP similar gene for RXFP2 using alignment to 1 protein entry:     RXFP2_HUMAN:
    RXFP1

    Find genes that share paralogs with RXFP2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RXFP2 (see all 1497)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289393821,2,4
    Cryptorchidism (CRYPTO)4--see VAR_0153862 mis40--------
    rs1219183031,2
    C,Fpathogenic113301425(+) CAATAA/CCCAGA 4 T P mis12Minor allele frequency- C:0.00NA EU 5783
    rs113776441,2
    C--13129959(+) GTTTT-/C/TTTTTT 2 -- int1 trp30--------
    rs1476351161,2
    C--13141311(+) TCATC-/CTCCCTA
    ATGACATCA
    CTAAA
    2 -- int10--------
    rs716940131,2
    C--13149602(+) ACACA-/ACA   
      CAT
    /AT
    CACAG
    4 -- int1 cds10--------
    rs670286341,2
    C--13149729(+) TTCTT-/CTGAATGC 2 -- int10--------
    rs1119530481,2
    C--13149731(+) CTTCTG/TAATGC 2 -- int10--------
    rs106917151,2
    C--13157320(+) TGAAT-/AAGTGTT 2 -- int10--------
    rs357052131,2
    C--13164448(+) GGCTT-/AT/TA 
            
    GTCTT
    2 -- int10--------
    rs58026171,2
    C--13166881(+) GAAAGC/-ATAGT 2 -- int1 trp31Minor allele frequency- -:0.00CSA 6

    HapMap Linkage Disequilibrium report for RXFP2 (32313674 - 32377009 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RXFP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820739CNV Duplication20802225
    esv1279252CNV Insertion17803354
    dgv318n67CNV Loss20364138

    Human Gene Mutation Database (HGMD): RXFP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RXFP2
    DNA2.0 Custom Variant and Variant Library Synthesis for RXFP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606655   
    OMIM disorders: 219050  
    UniProtKB/Swiss-Prot: RXFP2_HUMAN, Q8WXD0
  • 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

  • 2 diseases for RXFP2:    
    About MalaCards
    cryptorchidism    anorchia

    1 disease from the University of Copenhagen DISEASES database for RXFP2:
    Cryptorchidism

    Find genes that share disorders with RXFP2           About GenesLikeMe

    6 Novoseek inferred disease relationships for RXFP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cryptorchidism 81.5 24 14656401 (3), 19416190 (3), 12217959 (3), 15533513 (2) (see all 13)
    infertility 32.3 1 16687567 (1)
    testicular cancer 24.1 1 16687567 (1)
    myocardial infarction 21 2 7843687 (1), 11824000 (1)
    aggressive behavior 20 3 14732185 (2), 14732186 (1)
    thyroid carcinoma 19.6 1 12684664 (1)

    Genetic Association Database (GAD): RXFP2
    Human Genome Epidemiology (HuGE) Navigator: RXFP2 (6 documents)

    Export disorders for RXFP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for RXFP2 gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with RXFP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of the GREAT gene cause cryptorchidism. (PubMed id 12217959)1, 2, 3, 9 Gorlov I.P.... Agoulnik A.I. (Hum. Mol. Genet. 2002)
    2. Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. (PubMed id 14656401)1, 4, 9 Roh J....Hsueh A.J. (Reprod. Biomed. Online 2003)
    3. Mutations in INSL3 and RXFP2 genes in cryptorchid boys. (PubMed id 19416190)1, 4, 9 Ferlin A....Foresta C. (Ann. N. Y. Acad. Sci. 2009)
    4. The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. (PubMed id 18073304)1, 4, 9 Nuti F....Krausz C. (J. Clin. Endocrinol. Metab. 2008)
    5. Receptors for relaxin family peptides. (PubMed id 15956688)1, 3, 9 Bathgate R.A....Summers R.J. (Ann. N. Y. Acad. Sci. 2005)
    6. Genetic alterations associated with cryptorchidism. (PubMed id 19017913)1, 4 Ferlin A....Foresta C. (JAMA 2008)
    7. Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. (PubMed id 17028442)1, 4 Yamazawa K....Ogata T. (Horm. Res. 2007)
    8. International Union of Pharmacology LVII: recommendations for the nomenclature of receptors for relaxin family peptides. (PubMed id 16507880)1, 3 Bathgate R.A....Summers R.J. (Pharmacol. Rev. 2006)
    9. Splice variants of the relaxin and INSL3 receptors reveal unanticipated molecular complexity. (PubMed id 16051677)1, 2 Muda M.... Bathgate R.A.D. (Mol. Hum. Reprod. 2005)
    10. The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. (PubMed id 12970298)1, 3 Ferlin A....Foresta C. (J. Clin. Endocrinol. Metab. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 122042 HGNC: 17318 AceView: LGR8 Ensembl:ENSG00000133105 euGenes: HUgn122042
    ECgene: RXFP2 Kegg: 122042 H-InvDB: RXFP2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RXFP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for RXFP2 gene:
    Search GeneIP for patents involving RXFP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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