Aliases for RXFP3 Gene

Aliases for RXFP3 Gene

  • Relaxin Family Peptide Receptor 3 2 3 4 5
  • GPCR135 2 3 4
  • SALPR 2 3 4
  • Relaxin/Insulin Like Family Peptide Receptor 3 2 3
  • G-Protein Coupled Receptor GPCR135 3 4
  • G Protein-Coupled Receptor SALPR 3 4
  • Relaxin-3 Receptor 1 3 4
  • RLN3 Receptor 1 3 4
  • RLN3R1 3 4
  • RXFPR3 2 3
  • Somatostatin- And Angiotensin-Like Peptide Receptor 4
  • Somatostatin And Angiotensin-Like Peptide Receptor 3
  • G-Protein Coupled Receptor SALPR 3
  • Relaxin 3 Receptor 1 2
  • RXFP3 5

External Ids for RXFP3 Gene

Previous HGNC Symbols for RXFP3 Gene

  • RLN3R1

Previous GeneCards Identifiers for RXFP3 Gene

  • GC05P033974

Summaries for RXFP3 Gene

GeneCards Summary for RXFP3 Gene

RXFP3 (Relaxin Family Peptide Receptor 3) is a Protein Coding gene. Diseases associated with RXFP3 include Schizotypal Personality Disorder and Chromosome 5P13 Duplication Syndrome. Among its related pathways are Signaling by GPCR and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and G protein-coupled peptide receptor activity. An important paralog of this gene is GPR183.

UniProtKB/Swiss-Prot Summary for RXFP3 Gene

  • Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation.

Gene Wiki entry for RXFP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RXFP3 Gene

Genomics for RXFP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RXFP3 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
GH05J033936 Promoter 0.8 Ensembl 250.7 +0.3 314 1.4 SIN3A REST CTCF GABPB1 EHMT2 MXD3 NRF1 MIER2 RAD21 MAX HSALNG0041056 RXFP3 C1QTNF3 HSALNG0041057 SLC45A2
GH05J033438 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -495.1 -495085 5.4 TBP ZBTB10 SP1 MXD4 CEBPA NR2C1 MNT DEK IKZF1 SMAD5 ENSG00000249572 TARS1 HSALNG0041040 LOC107986411 piR-40730 ENSG00000215158 RPS8P8 RXFP3 HSALNG0041039 lnc-TARS-3
GH05J033435 Enhancer 0.9 Ensembl ENCODE 11.2 -500.4 -500416 0.8 DEK CTCF REST TRIM22 SMC3 RAD21 RFX5 TEAD3 BCL6 USF2 HSALNG0041039 RXFP3 TARS1 LOC107986411 ENSG00000249572 HSALNG0041037 NPR3
GH05J033675 Enhancer 0.8 FANTOM5 Ensembl 10.6 -260.3 -260286 1.8 SPI1 ASH2L BATF ZNF24 ELF1 IKZF1 BMI1 ATF2 ARID3A TARDBP piR-55641-003 ADAMTS12 RXFP3 RNU6-923P piR-51819-020 TARS1
GH05J033432 Enhancer 0.8 ENCODE 10.8 -503.4 -503363 0.6 CEBPA FOXA2 SMAD4 MAFF SAP130 RXRA ETV4 RARA BCL6 ZNF316 RXFP3 TARS1 HSALNG0041039 ENSG00000249572 LOC107986411 HSALNG0041037 NPR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RXFP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RXFP3

Top Transcription factor binding sites by QIAGEN in the RXFP3 gene promoter:
  • AML1a
  • AP-4
  • c-Myb
  • NRSF form 1
  • NRSF form 2
  • Pax-3
  • RREB-1
  • STAT5A
  • ZIC2
  • Zic3

Genomic Locations for RXFP3 Gene

Latest Assembly
chr5:33,936,386-33,938,918
(GRCh38/hg38)
Size:
2,533 bases
Orientation:
Plus strand

Previous Assembly
chr5:33,936,491-33,939,023
(GRCh37/hg19 by Entrez Gene)
Size:
2,533 bases
Orientation:
Plus strand

chr5:33,936,491-33,939,023
(GRCh37/hg19 by Ensembl)
Size:
2,533 bases
Orientation:
Plus strand

Genomic View for RXFP3 Gene

Genes around RXFP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RXFP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RXFP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RXFP3 Gene

Proteins for RXFP3 Gene

  • Protein details for RXFP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSD7-RL3R1_HUMAN
    Recommended name:
    Relaxin-3 receptor 1
    Protein Accession:
    Q9NSD7
    Secondary Accessions:
    • Q14DA5

    Protein attributes for RXFP3 Gene

    Size:
    469 amino acids
    Molecular mass:
    51124 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RXFP3 Gene

Post-translational modifications for RXFP3 Gene

  • Glycosylation at Asn36 and Asn40
  • Modification sites at PhosphoSitePlus

Other Protein References for RXFP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for RXFP3

No data available for DME Specific Peptides for RXFP3 Gene

Domains & Families for RXFP3 Gene

Gene Families for RXFP3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins
  • Transporters

Protein Domains for RXFP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RXFP3 Gene

GenScript: Design optimal peptide antigens:
  • Relaxin/insulin-like family peptide receptor 3 (Q502V2_HUMAN)
  • Somatostatin- and angiotensin-like peptide receptor (RL3R1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NSD7

UniProtKB/Swiss-Prot:

RL3R1_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 RXFP3: view

Function for RXFP3 Gene

Molecular function for RXFP3 Gene

UniProtKB/Swiss-Prot Function:
Receptor for RNL3/relaxin-3. Binding of the ligand inhibit cAMP accumulation.

Gene Ontology (GO) - Molecular Function for RXFP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity TAS 10806363
GO:0008528 G protein-coupled peptide receptor activity IBA 21873635
genes like me logo Genes that share ontologies with RXFP3: view
genes like me logo Genes that share phenotypes with RXFP3: view

Animal Models for RXFP3 Gene

MGI Knock Outs for RXFP3:

Animal Models for research

  • Taconic Biosciences Mouse Models for RXFP3

miRNA for RXFP3 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RXFP3

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RXFP3 Gene

Localization for RXFP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RXFP3 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 RXFP3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RXFP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RXFP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RXFP3 Gene

Pathways & Interactions for RXFP3 Gene

genes like me logo Genes that share pathways with RXFP3: view

Pathways by source for RXFP3 Gene

Gene Ontology (GO) - Biological Process for RXFP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007218 neuropeptide signaling pathway IBA 21873635
GO:0032467 positive regulation of cytokinesis IMP 22888021
genes like me logo Genes that share ontologies with RXFP3: view

No data available for SIGNOR curated interactions for RXFP3 Gene

Drugs & Compounds for RXFP3 Gene

(10) Drugs for RXFP3 Gene - From: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
[<sup>125</sup>I]H3-B/INSL5 A chimera Pharma Agonist 0
H3 relaxin Pharma Agonist, Full agonist 0
H3 relaxin (B chain) Pharma Agonist, Full agonist 0
H3 relaxin/INSL5 chimera Pharma Agonist, Full agonist 0

(2) Additional Compounds for RXFP3 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]H3 relaxin
Agonist, Full agonist
genes like me logo Genes that share compounds with RXFP3: view

Transcripts for RXFP3 Gene

mRNA/cDNA for RXFP3 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RXFP3

Alternative Splicing Database (ASD) splice patterns (SP) for RXFP3 Gene

No ASD Table

Relevant External Links for RXFP3 Gene

GeneLoc Exon Structure for
RXFP3

Expression for RXFP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RXFP3 Gene

mRNA differential expression in normal tissues according to GTEx for RXFP3 Gene

This gene is overexpressed in Adrenal Gland (x19.3), Brain - Hypothalamus (x7.0), and Pituitary (x4.4).

Protein differential expression in normal tissues from HIPED for RXFP3 Gene

This gene is overexpressed in Pancreas (60.5) and Heart (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RXFP3 Gene



Protein tissue co-expression partners for RXFP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RXFP3

SOURCE GeneReport for Unigene cluster for RXFP3 Gene:

Hs.170146

mRNA Expression by UniProt/SwissProt for RXFP3 Gene:

Q9NSD7-RL3R1_HUMAN
Tissue specificity: Expressed predominantly in brain regions. Highest expression in substantia nigra and pituitary, followed by hippocampus, spinal cord, amygdala, caudate nucleus and corpus callosum, quite low level in cerebellum. In peripheral tissues, relatively high levels in adrenal glands, low levels in pancreas, salivary gland, placenta, mammary gland and testis.

Evidence on tissue expression from TISSUES for RXFP3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with RXFP3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RXFP3 Gene

Orthologs for RXFP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RXFP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RXFP3 30 31
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RXFP3 30 31
  • 89.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RXFP3 30 31
  • 86.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rxfp3 30 17 31
  • 84.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rxfp3 30
  • 84.72 (n)
Oppossum
(Monodelphis domestica)
Mammalia RXFP3 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RXFP3 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RXFP3 30 31
  • 74.64 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rxfp3 30
  • 68.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii rxfp3 30 31
  • 66.85 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8 31
  • 20 (a)
OneToMany
Species where no ortholog for RXFP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 RXFP3 Gene

ENSEMBL:
Gene Tree for RXFP3 (if available)
TreeFam:
Gene Tree for RXFP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RXFP3: view image

Paralogs for RXFP3 Gene

Paralogs for RXFP3 Gene

(5) SIMAP similar genes for RXFP3 Gene using alignment to 2 proteins:

  • RL3R1_HUMAN
  • Q502V2_HUMAN

Pseudogenes.org Pseudogenes for RXFP3 Gene

genes like me logo Genes that share paralogs with RXFP3: view

Variants for RXFP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RXFP3 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs78710898 Benign: not provided 33,937,110(+) C/T
NM_016568.3(RXFP3):c.370C>T (p.Leu124=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RXFP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RXFP3 Gene

Variant ID Type Subtype PubMed ID
esv3604665 CNV gain 21293372
nsv1019937 CNV loss 25217958
nsv462114 CNV loss 19166990
nsv462115 CNV loss 19166990
nsv522715 CNV gain 19592680
nsv597791 CNV loss 21841781
nsv597792 CNV loss 21841781
nsv597793 CNV loss 21841781
nsv830255 CNV loss 17160897

Variation tolerance for RXFP3 Gene

Residual Variation Intolerance Score: 43.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.73; 32.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RXFP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RXFP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RXFP3 Gene

Disorders for RXFP3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RXFP3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
schizotypal personality disorder
  • schizotypal personality
chromosome 5p13 duplication syndrome
  • 5p13 microduplication syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RXFP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RXFP3

genes like me logo Genes that share disorders with RXFP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RXFP3 Gene

Publications for RXFP3 Gene

  1. Receptors for relaxin family peptides. (PMID: 15956688) Bathgate RA … Summers RJ (Annals of the New York Academy of Sciences 2005) 2 3 23
  2. The novel G-protein coupled receptor SALPR shares sequence similarity with somatostatin and angiotensin receptors. (PMID: 10806363) Matsumoto M … Furuichi K (Gene 2000) 3 4 23
  3. H2 relaxin is a biased ligand relative to H3 relaxin at the relaxin family peptide receptor 3 (RXFP3). (PMID: 20159943) van der Westhuizen ET … Summers RJ (Molecular pharmacology 2010) 3 23
  4. Identification of the domains in RXFP4 (GPCR142) responsible for the high affinity binding and agonistic activity of INSL5 at RXFP4 compared to RXFP3 (GPCR135). (PMID: 18582868) Zhu J … Liu C (European journal of pharmacology 2008) 3 23
  5. International Union of Pharmacology LVII: recommendations for the nomenclature of receptors for relaxin family peptides. (PMID: 16507880) Bathgate RA … Summers RJ (Pharmacological reviews 2006) 2 3

Products for RXFP3 Gene

Sources for RXFP3 Gene