This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Al... See more...

Aliases for RLN3 Gene

Aliases for RLN3 Gene

  • Relaxin 3 2 3 5
  • Prorelaxin H3 2 3 4
  • ZINS4 2 3 4
  • RXN3 2 3 4
  • Insulin-Like Peptide INSL7 3 4
  • Insulin-Like Peptide 7 3 4
  • Relaxin-3 3 4
  • H3 2 3
  • Relaxin 3 (H3) 2
  • Insl7 3
  • INSL7 4
  • RLN3 5

External Ids for RLN3 Gene

Previous GeneCards Identifiers for RLN3 Gene

  • GC19P014494
  • GC19P013984
  • GC19P014000
  • GC19P014137
  • GC19P013711
  • GC19P014029

Summaries for RLN3 Gene

Entrez Gene Summary for RLN3 Gene

  • This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

GeneCards Summary for RLN3 Gene

RLN3 (Relaxin 3) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include hormone activity and G protein-coupled receptor binding. An important paralog of this gene is INSL5.

UniProtKB/Swiss-Prot Summary for RLN3 Gene

  • May play a role in neuropeptide signaling processes. Ligand for LGR7, RXFP3 and RXFP4.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RLN3 Gene

Genomics for RLN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RLN3 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
GH19J014028 Promoter/Enhancer 1 EPDnew Ensembl 600.7 -0.1 -126 0.8 NR2C1 ZNF740 DPF2 GATAD2B EP300 UBTF CTBP1 TCF7 NCOR1 NCOA1 RF00017-2839 RLN3 PALM3 RFX1 RF00017-2840
GH19J014030 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.7 +3.9 3921 3 HNRNPL GATAD2A CTCF PRDM10 ZNF512 KDM1A ZNF692 POLR2A JUND LARP7 IL27RA ENSG00000267670 lnc-RLN3-1 TRMT1 ZNF333 CCDC130 SNRPGP15 RLN3 PALM3 RF00017-2840
GH19J014023 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.7 -3.0 -3047 4.6 GATAD2A CTCF IKZF1 KDM1A PKNOX1 ZNF24 RXRB NR2C1 IKZF2 SP1 RF00017-2839 IL27RA RLN3 RFX1 RF00017-2840
GH19J014015 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -12.9 -12862 1.8 SP1 BACH1 STAT3 IKZF2 POLR2A TRIM22 ZNF766 HMBOX1 DPF2 RELB PKN1 NANOS3 IL27RA RFX1 RLN3 RF00017-2839
GH19J014017 Enhancer 0.8 Ensembl ENCODE 0.4 -9.8 -9847 3.4 TCF12 IKZF2 CEBPA CEBPB ARID3A DPF2 RELB RUNX3 NR3C1 YY1 IL27RA RF00017-2839 RLN3 RFX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RLN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RLN3

Top Transcription factor binding sites by QIAGEN in the RLN3 gene promoter:
  • AREB6
  • E47
  • GATA-1
  • GATA-6
  • NF-1
  • NF-1/L
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3
  • TBP

Genomic Locations for RLN3 Gene

Genomic Locations for RLN3 Gene
chr19:14,028,148-14,031,558
(GRCh38/hg38)
Size:
3,411 bases
Orientation:
Plus strand
chr19:14,138,960-14,141,854
(GRCh37/hg19)
Size:
2,895 bases
Orientation:
Plus strand

Genomic View for RLN3 Gene

Genes around RLN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RLN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RLN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RLN3 Gene

Proteins for RLN3 Gene

  • Protein details for RLN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXF3-REL3_HUMAN
    Recommended name:
    Relaxin-3
    Protein Accession:
    Q8WXF3
    Secondary Accessions:
    • Q6UXW5

    Protein attributes for RLN3 Gene

    Size:
    142 amino acids
    Molecular mass:
    15451 Da
    Quaternary structure:
    • Heterodimer of a B chain and an A chain linked by two disulfide bonds.
    SequenceCaution:
    • Sequence=AAQ88548.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RLN3 Gene

neXtProt entry for RLN3 Gene

Post-translational modifications for RLN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RLN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RLN3 Gene

Domains & Families for RLN3 Gene

Gene Families for RLN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for RLN3 Gene

InterPro:
Blocks:
  • Insulin/IGF/relaxin
ProtoNet:

Suggested Antigen Peptide Sequences for RLN3 Gene

GenScript: Design optimal peptide antigens:
  • Relaxin 3 (B2RU28_HUMAN)
  • Prorelaxin H3 (REL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXF3

UniProtKB/Swiss-Prot:

REL3_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with RLN3: view

Function for RLN3 Gene

Molecular function for RLN3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neuropeptide signaling processes. Ligand for LGR7, RXFP3 and RXFP4.

Phenotypes From GWAS Catalog for RLN3 Gene

Gene Ontology (GO) - Molecular Function for RLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IEA,IBA 21873635
GO:0005179 hormone activity IEA --
GO:0005515 protein binding IPI 24802387
genes like me logo Genes that share ontologies with RLN3: view
genes like me logo Genes that share phenotypes with RLN3: view

Animal Models for RLN3 Gene

MGI Knock Outs for RLN3:
  • Rln3 Rln3<tm1Mast>
  • Rln3 Rln3<tm1Lex>
  • Rln3 Rln3<tm1(KOMP)Mbp>

Animal Model Products

  • Taconic Biosciences Mouse Models for RLN3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RLN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RLN3 Gene

Localization for RLN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RLN3 Gene

Secreted.

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 RLN3 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with RLN3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RLN3 Gene

Pathways & Interactions for RLN3 Gene

genes like me logo Genes that share pathways with RLN3: view

Pathways by source for RLN3 Gene

2 Qiagen pathways for RLN3 Gene
  • Activation of PKC through GPCR
  • Relaxin Pathway

Gene Ontology (GO) - Biological Process for RLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with RLN3: view

No data available for SIGNOR curated interactions for RLN3 Gene

Drugs & Compounds for RLN3 Gene

(1) Additional Compounds for RLN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RLN3: view

Transcripts for RLN3 Gene

mRNA/cDNA for RLN3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RLN3

Alternative Splicing Database (ASD) splice patterns (SP) for RLN3 Gene

No ASD Table

Relevant External Links for RLN3 Gene

GeneLoc Exon Structure for
RLN3

Expression for RLN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RLN3 Gene

mRNA differential expression in normal tissues according to GTEx for RLN3 Gene

This gene is overexpressed in Whole Blood (x18.5) and Testis (x9.0).

Protein differential expression in normal tissues from HIPED for RLN3 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RLN3 Gene



Protein tissue co-expression partners for RLN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RLN3

SOURCE GeneReport for Unigene cluster for RLN3 Gene:

Hs.352155

Evidence on tissue expression from TISSUES for RLN3 Gene

  • Nervous system(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RLN3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RLN3 Gene

Orthologs for RLN3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RLN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RLN3 30 31
  • 98.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RLN3 30
  • 81.03 (n)
Cow
(Bos Taurus)
Mammalia RLN3 30 31
  • 79.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rln3 30 17 31
  • 76.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rln3 30
  • 76.26 (n)
Lizard
(Anolis carolinensis)
Reptilia RLN3 31
  • 54 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rln3a 31
  • 36 (a)
OneToMany
rln1 31
  • 32 (a)
OneToMany
Species where no ortholog for RLN3 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)
  • Chicken (Gallus gallus)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RLN3 Gene

ENSEMBL:
Gene Tree for RLN3 (if available)
TreeFam:
Gene Tree for RLN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RLN3: view image

Paralogs for RLN3 Gene

Paralogs for RLN3 Gene

genes like me logo Genes that share paralogs with RLN3: view

Variants for RLN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RLN3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
734211 Likely Benign: not provided 14,028,325(+) C/T NONSENSE
787603 Likely Benign: not provided 14,028,292(+) T/C MISSENSE_VARIANT
rs1425553674 Uncertain Significance: not provided 14,030,806(+) C/A NONSENSE,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RLN3 Gene

Structural Variations from Database of Genomic Variants (DGV) for RLN3 Gene

Variant ID Type Subtype PubMed ID
nsv578640 CNV gain 21841781
nsv578641 CNV gain 21841781
nsv578642 CNV gain 21841781
nsv833761 CNV loss 17160897

Variation tolerance for RLN3 Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RLN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RLN3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RLN3 Gene

Disorders for RLN3 Gene

Additional Disease Information for RLN3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for RLN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RLN3 Gene

Publications for RLN3 Gene

  1. Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth. (PMID: 20023247) Vogel I … Grove J (In vivo (Athens, Greece) 2009) 3 23 41
  2. Solution structure and novel insights into the determinants of the receptor specificity of human relaxin-3. (PMID: 16365033) Rosengren KJ … Craik DJ (The Journal of biological chemistry 2006) 3 4 23
  3. Identification of relaxin-3/INSL7 as a ligand for GPCR142. (PMID: 14522967) Liu C … Lovenberg TW (The Journal of biological chemistry 2003) 3 4 23
  4. Production of recombinant human relaxin 3 in AtT20 cells. (PMID: 12686464) Kizawa H … Fujino M (Regulatory peptides 2003) 3 4 23
  5. H3 relaxin is a specific ligand for LGR7 and activates the receptor by interacting with both the ectodomain and the exoloop 2. (PMID: 12506116) Sudo S … Hsueh AJ (The Journal of biological chemistry 2003) 3 4 23

Products for RLN3 Gene

Sources for RLN3 Gene