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Aliases for RXFP2 Gene

Aliases for RXFP2 Gene

  • Relaxin/Insulin-Like Family Peptide Receptor 2 2 3
  • GREAT 3 4 6
  • LGR8 3 4 6
  • Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 8 2 3
  • Leucine-Rich Repeat-Containing G-Protein Coupled Receptor 8 3 4
  • G-Protein Coupled Receptor Affecting Testicular Descent 3 4
  • Relaxin Family Peptide Receptor 2 3 4
  • G-Protein Coupled Receptor 106 3 4
  • GPR106 3 4
  • G Protein Coupled Receptor Affecting Testicular Descent 3
  • 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 and anorchia. Among its related pathways are Signaling by GPCR and CREB Pathway. GO annotations related to this gene include peptide hormone binding and protein-hormone receptor activity. An important paralog of this gene is LGR6.

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

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

Genomics for RXFP2 Gene

Regulatory Elements for RXFP2 Gene

Genomic Location for RXFP2 Gene

Start:
31,739,542 bp from pter
End:
31,803,388 bp from pter
Size:
63,847 bases
Orientation:
Plus strand

Genomic View for RXFP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for RXFP2 Gene at MOPED

Post-translational modifications for RXFP2 Gene

  • Glycosylation at Asn54, Asn138, Asn274, Asn335, and Asn378
  • Modification sites at PhosphoSitePlus

Other Protein References for RXFP2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RXFP2 Gene

Domains for RXFP2 Gene

Gene Families for RXFP2 Gene

HGNC:
  • RXFP :GPCR / Class A : Relaxin family peptide receptors
IUPHAR :

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 :
  • Q8WXD0
Domain:
  • Contains 1 LDL-receptor class A domain.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
Similarity:
  • Contains 10 LRR (leucine-rich) repeats.
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)

Gene Ontology (GO) - Molecular Function for RXFP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G-protein coupled receptor activity --
GO:0005515 protein binding --
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

Animal Models for RXFP2 Gene

MGI Knock Outs for RXFP2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for RXFP2 Gene COMPARTMENTS Subcellular localization image for RXFP2 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for RXFP2 Gene

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

Pathways for RXFP2 Gene

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

Pathways by source for RXFP2 Gene

Gene Ontology (GO) - Biological Process for RXFP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001556 oocyte maturation IEA --
GO:0007186 G-protein coupled receptor signaling pathway --
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA --
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with RXFP2: view

Compounds for RXFP2 Gene

(1) HMDB Compounds for RXFP2 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(12) IUPHAR Ligand for RXFP2 Gene

Ligand Type Action Affinity Pubmed IDs
[125I]INSL3 (human) Agonist Full agonist 10
INSL3 Agonist Full agonist 9.7
[33P]H2 relaxin Agonist Full agonist 9.2
europium-labelled INSL3 Agonist Full agonist 9
H1 relaxin Agonist Full agonist 8.8
H2 relaxin Agonist Full agonist 8.3
relaxin Agonist Full agonist 7.9
relaxin Agonist Full agonist 7.9
H3 relaxin Agonist Full agonist 7
(des 1-8) A-chain INSL3 analogue Antagonist Antagonist
INSL3 B chain dimer Antagonist Antagonist
INSL3 B-chain analogue Antagonist Antagonist

(3) Novoseek inferred chemical compound relationships for RXFP2 Gene

Compound -log(P) Hits PubMed IDs
cyclic amp 15.4 1
phosphoinositide 11.5 1
alanine 0.0729 1
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:

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 for RXFP2 Gene

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

This gene is overexpressed in Uterus (13.8), Brain - Putamen (basal ganglia) (6.5), and Fallopian Tube (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RXFP2 Gene

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 expressions with RXFP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.5 (n)
  • 98.9 (a)
RXFP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RXFP2 35
  • 88.34 (n)
  • 86.49 (a)
RXFP2 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RXFP2 35
  • 91.73 (n)
  • 90.74 (a)
RXFP2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rxfp2 35
  • 81.88 (n)
  • 82.02 (a)
Rxfp2 16
Rxfp2 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RXFP2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RXFP2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rxfp2 35
  • 81.69 (n)
  • 82.02 (a)
chicken
(Gallus gallus)
Aves RXFP2 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RXFP2 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491657 35
  • 70.18 (n)
  • 71.41 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1936 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
rxfp2a 36
  • 57 (a)
OneToMany
rxfp2b 36
  • 58 (a)
OneToMany
rxfp2l 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG34411 36
  • 29 (a)
ManyToMany
Lgr3 35
  • 46.01 (n)
  • 38.18 (a)
Lgr3 36
  • 32 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 16 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 21 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
-- 36
  • 17 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 15 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
-- 36
  • 17 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
-- 36
  • 17 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
Species with no ortholog for RXFP2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs960712 -- 31,745,366(+) GGTGA(A/T)CCAGT intron-variant
rs1077054 -- 31,748,296(-) attat(C/T)tacta intron-variant
rs1200329 -- 31,756,847(+) aactg(C/T)tggcc intron-variant
rs1322569 -- 31,742,742(+) GGTTG(A/G)TATCG intron-variant
rs1322570 -- 31,742,801(+) AATTA(A/G)CAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv318n67 CNV Loss 20364138
nsv820739 CNV Duplication 20802225
esv1279252 CNV Insertion 17803354

Relevant External Links for RXFP2 Gene

HapMap Linkage Disequilibrium report
RXFP2
Human Gene Mutation Database (HGMD)
RXFP2

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

Disorders for RXFP2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for RXFP2 Gene including...

Search for RXFP2 Gene in MalaCards »

(1) OMIM Diseases for RXFP2 Gene (606655)

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.

(1) University of Copenhagen DISEASES for RXFP2 Gene

(6) Novoseek inferred disease relationships for RXFP2 Gene

Disease -log(P) Hits PubMed IDs
cryptorchidism 81.5 23
infertility 32.3 1
testicular cancer 24.1 1
myocardial infarction 21 2
aggressive behavior 20 3

Relevant External Links for RXFP2

Genetic Association Database (GAD)
RXFP2
Human Genome Epidemiology (HuGE) Navigator
RXFP2
genes like me logo Genes that share disorders with RXFP2: view

Publications for RXFP2 Gene

  1. Mutations of the GREAT gene cause cryptorchidism. (PMID: 12217959) Gorlov I.P. … Agoulnik A.I. (Hum. Mol. Genet. 2002) 2 3 4 23
  2. The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. (PMID: 18073304) Nuti F. … Krausz C. (J. Clin. Endocrinol. Metab. 2008) 3 23 48
  3. Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. (PMID: 14656401) Roh J. … Hsueh A.J. (Reprod. Biomed. Online 2003) 3 23 48
  4. Receptors for relaxin family peptides. (PMID: 15956688) Bathgate R.A. … Summers R.J. (Ann. N. Y. Acad. Sci. 2005) 2 3 23
  5. Mutations in INSL3 and RXFP2 genes in cryptorchid boys. (PMID: 19416190) Ferlin A. … Foresta C. (Ann. N. Y. Acad. Sci. 2009) 3 23 48

Products for RXFP2 Gene

Sources for RXFP2 Gene

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