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Aliases for RXFP2 Gene

Aliases for RXFP2 Gene

  • Relaxin/Insulin Like Family Peptide Receptor 2 2 3 5
  • Leucine-Rich Repeat-Containing G-Protein Coupled Receptor 8 3 4
  • Relaxin Family Peptide Receptor 2 3 4
  • G-Protein Coupled Receptor 106 3 4
  • GPR106 3 4
  • GREAT 3 4
  • LGR8 3 4
  • Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 8 2
  • G Protein Coupled Receptor Affecting Testicular Descent 3
  • G-Protein Coupled Receptor Affecting Testicular Descent 4
  • Relaxin Receptor 2 3
  • INSL3R 3
  • LGR8.1 3
  • RXFPR2 3

External Ids for RXFP2 Gene

Previous HGNC Symbols for RXFP2 Gene

  • LGR8

Previous GeneCards Identifiers for RXFP2 Gene

  • GC13P031212
  • GC13P032313
  • GC13P013124

Summaries for RXFP2 Gene

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, Unilateral Or Bilateral and Testicular Cancer. Among its related pathways are Peptide ligand-binding receptors and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and protein-hormone receptor activity. An important paralog of this gene is RXFP1.

UniProtKB/Swiss-Prot for RXFP2 Gene

  • 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 Gene

Additional gene information for RXFP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RXFP2 Gene

Genomics for RXFP2 Gene

GeneHancer (GH) Regulatory Elements for RXFP2 Gene

Promoters and enhancers for RXFP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I031739 Promoter 0.5 EPDnew 550.8 0.0 -7 0.1 RXFP2 GC13P031608
GH13I030862 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -874.5 -874530 5.2 PKNOX1 ATF1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 YY1 TEX26 MEDAG TEX26-AS1 RXFP2 LINC00545 PIR60604
GH13I030867 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -868.1 -868141 6.9 HDGF ATF1 INSM2 KLF17 ZNF2 ZEB1 GLIS2 ZNF391 FOS ATF7 TEX26 MEDAG TEX26-AS1 RXFP2 LINC00545 PIR60604
GH13I031764 Enhancer 0.8 Ensembl ENCODE dbSUPER 7.2 +27.4 27364 5.5 JUND HLF RXFP2 EEF1DP3
GH13I031748 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 6.8 +10.5 10457 2.3 JUND POLR2A FOS RXFP2 EEF1DP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RXFP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RXFP2 gene promoter:

Genomic Locations for RXFP2 Gene

Genomic Locations for RXFP2 Gene
chr13:31,739,542-31,803,388
(GRCh38/hg38)
Size:
63,847 bases
Orientation:
Plus strand
chr13:32,313,674-32,377,009
(GRCh37/hg19)

Genomic View for RXFP2 Gene

Genes around RXFP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RXFP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RXFP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RXFP2 Gene

Proteins for RXFP2 Gene

  • Protein details for RXFP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXD0-RXFP2_HUMAN
    Recommended name:
    Relaxin receptor 2
    Protein Accession:
    Q8WXD0
    Secondary Accessions:
    • B1ALE9
    • Q3KU23

    Protein attributes for RXFP2 Gene

    Size:
    754 amino acids
    Molecular mass:
    86453 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RXFP2 Gene

    Alternative splice isoforms for RXFP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RXFP2 Gene

Post-translational modifications for RXFP2 Gene

  • Glycosylation at posLast=5454, posLast=138138, isoforms=2274, posLast=335335, and posLast=378378
  • Modification sites at PhosphoSitePlus

Other Protein References for RXFP2 Gene

No data available for DME Specific Peptides for RXFP2 Gene

Domains & Families for RXFP2 Gene

Gene Families for RXFP2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RXFP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXD0

UniProtKB/Swiss-Prot:

RXFP2_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with RXFP2: view

Function for RXFP2 Gene

Molecular function for RXFP2 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for RXFP2 Gene

Gene Ontology (GO) - Molecular Function for RXFP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IBA --
GO:0016500 protein-hormone receptor activity IEA --
GO:0017046 peptide hormone binding IEA --
genes like me logo Genes that share ontologies with RXFP2: view
genes like me logo Genes that share phenotypes with RXFP2: view

Human Phenotype Ontology for RXFP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RXFP2 Gene

MGI Knock Outs for RXFP2:

Clone Products

  • Addgene plasmids for RXFP2

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for RXFP2 Gene

Localization for RXFP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RXFP2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RXFP2 gene
Compartment Confidence
plasma membrane 5
extracellular 2

Gene Ontology (GO) - Cellular Components for RXFP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IBA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RXFP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RXFP2 Gene

Pathways & Interactions for RXFP2 Gene

genes like me logo Genes that share pathways with RXFP2: view

SIGNOR curated interactions for RXFP2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RXFP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001556 oocyte maturation IEA --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with RXFP2: view

Drugs & Compounds for RXFP2 Gene

(13) Drugs for RXFP2 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
(des 1-8) A-chain INSL3 analogue Pharma Antagonist 0
[<sup>125</sup>I]INSL3 (human) Pharma Full agonist, Agonist 0
europium-labelled INSL3 Pharma Full agonist, Agonist 0
H1 relaxin Pharma Full agonist, Agonist 0

(2) Additional Compounds for RXFP2 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>33</sup>P]H2 relaxin
Full agonist, Agonist
genes like me logo Genes that share compounds with RXFP2: view

Transcripts for RXFP2 Gene

mRNA/cDNA for RXFP2 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RXFP2 Gene

Relaxin/insulin-like family peptide receptor 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for RXFP2

Alternative Splicing Database (ASD) splice patterns (SP) for RXFP2 Gene

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

Relevant External Links for RXFP2 Gene

GeneLoc Exon Structure for
RXFP2
ECgene alternative splicing isoforms for
RXFP2

Expression for RXFP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RXFP2 Gene

mRNA differential expression in normal tissues according to GTEx for RXFP2 Gene

This gene is overexpressed in Uterus (x13.8), Brain - Putamen (basal ganglia) (x6.5), and Fallopian Tube (x4.8).

Protein differential expression in normal tissues from HIPED for RXFP2 Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RXFP2 Gene



Protein tissue co-expression partners for RXFP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RXFP2 Gene:

RXFP2

SOURCE GeneReport for Unigene cluster for RXFP2 Gene:

Hs.680763

mRNA Expression by UniProt/SwissProt for RXFP2 Gene:

Q8WXD0-RXFP2_HUMAN
Tissue specificity: Expressed mainly in the brain, kidney, muscle, testis, thyroid, uterus, peripheral blood cells and bone marrow.
genes like me logo Genes that share expression patterns with RXFP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RXFP2 Gene

Orthologs for RXFP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RXFP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RXFP2 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia RXFP2 33 34
  • 91.73 (n)
cow
(Bos Taurus)
Mammalia RXFP2 33 34
  • 88.34 (n)
mouse
(Mus musculus)
Mammalia Rxfp2 33 16 34
  • 81.88 (n)
rat
(Rattus norvegicus)
Mammalia Rxfp2 33
  • 81.69 (n)
oppossum
(Monodelphis domestica)
Mammalia RXFP2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RXFP2 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RXFP2 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RXFP2 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491657 33
  • 70.18 (n)
zebrafish
(Danio rerio)
Actinopterygii rxfp2b 34
  • 58 (a)
OneToMany
rxfp2a 34
  • 57 (a)
OneToMany
rxfp2l 34
  • 55 (a)
OneToMany
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1936 33
fruit fly
(Drosophila melanogaster)
Insecta Lgr3 33 34
  • 46.01 (n)
CG34411 34
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
ManyToMany
-- 34
  • 25 (a)
ManyToMany
-- 34
  • 25 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 20 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 15 (a)
ManyToMany
Species where no ortholog for RXFP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RXFP2 Gene

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

Paralogs for RXFP2 Gene

Paralogs for RXFP2 Gene

(1) SIMAP similar genes for RXFP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RXFP2: view

Variants for RXFP2 Gene

Sequence variations from dbSNP and Humsavar for RXFP2 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs121918303 uncertain-significance, Cryptorchidism, unilateral or bilateral, Cryptorchidism (CRYPTO) [MIM:219050] 31,777,398(+) A/C/G coding_sequence_variant, missense_variant
rs1000013759 -- 31,794,333(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000057787 -- 31,756,525(+) C/A intron_variant
rs1000070994 -- 31,756,276(+) A/T intron_variant
rs1000128909 -- 31,767,505(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RXFP2 Gene

Variant ID Type Subtype PubMed ID
dgv1625n100 CNV loss 25217958
dgv318n67 CNV loss 20364138
esv1279252 CNV insertion 17803354
esv3580592 CNV loss 25503493
esv3631704 CNV loss 21293372
nsv561401 CNV loss 21841781
nsv820739 CNV duplication 20802225

Variation tolerance for RXFP2 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RXFP2 Gene

Human Gene Mutation Database (HGMD)
RXFP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RXFP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RXFP2 Gene

Disorders for RXFP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RXFP2 Gene - From: HGMD, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cryptorchidism, unilateral or bilateral
  • undescended testis
testicular cancer
  • childhood neoplasm of the testis
anorchia
  • absence of testes
infertility
physical disorder
  • physical illness
- elite association - COSMIC cancer census association via MalaCards
Search RXFP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RXFP2_HUMAN
  • 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. {ECO:0000269 PubMed:12217959}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RXFP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RXFP2: view

No data available for Genatlas for RXFP2 Gene

Publications for RXFP2 Gene

  1. Mutations of the GREAT gene cause cryptorchidism. (PMID: 12217959) Gorlov IP … Agoulnik AI (Human molecular genetics 2002) 2 3 4 22 58
  2. Mutations in INSL3 and RXFP2 genes in cryptorchid boys. (PMID: 19416190) Ferlin A … Foresta C (Annals of the New York Academy of Sciences 2009) 3 22 44 58
  3. The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. (PMID: 18073304) Nuti F … Krausz C (The Journal of clinical endocrinology and metabolism 2008) 3 22 44 58
  4. Receptors for relaxin family peptides. (PMID: 15956688) Bathgate RA … Summers RJ (Annals of the New York Academy of Sciences 2005) 2 3 22 58
  5. Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. (PMID: 14656401) Roh J … Hsueh AJ (Reproductive biomedicine online 2003) 3 22 44 58

Products for RXFP2 Gene

  • Addgene plasmids for RXFP2

Sources for RXFP2 Gene

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