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Aliases for RLN2 Gene

Aliases for RLN2 Gene

  • Relaxin 2 2 3 5
  • Relaxin, Ovarian, Of Pregnancy 2 3
  • Prorelaxin H2 2 3
  • Relaxin H2 2 3
  • H2-Preprorelaxin 3
  • Relaxin 2 (H2) 2
  • BA12D24.1.1 3
  • BA12D24.1.2 3
  • H2-RLX 3
  • RLXH2 3
  • H2 3

External Ids for RLN2 Gene

Previous GeneCards Identifiers for RLN2 Gene

  • GC09M005453
  • GC09M005281
  • GC09M005289
  • GC09M005301
  • GC09M005305

Summaries for RLN2 Gene

Entrez Gene Summary for RLN2 Gene

  • This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [provided by RefSeq, Jul 2016]

GeneCards Summary for RLN2 Gene

RLN2 (Relaxin 2) is a Protein Coding gene. Diseases associated with RLN2 include Anterior Cruciate Ligament Tears and Bone Cancer. Among its related pathways are Peptide ligand-binding receptors and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is RLN1.

UniProtKB/Swiss-Prot for RLN2 Gene

  • Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.

Additional gene information for RLN2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RLN2 Gene

Genomics for RLN2 Gene

GeneHancer (GH) Regulatory Elements for RLN2 Gene

Promoters and enhancers for RLN2 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
GH09I005338 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 0.0 -16 1.3 ZNF335 ZEB2 ZNF501 RLN1 RLN2
GH09I005304 Promoter 0.5 EPDnew 550.3 +34.7 34677 0.1 RLN2 GC09M005299 HMGN2P31
GH09I005585 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.7 -247.4 -247385 2.3 PKNOX1 BACH1 EBF1 BATF IRF4 RELA FOS IKZF2 RUNX3 SRF CD274 PLGRKT PDCD1LG2 RLN2 HMGN2P31 RIC1 ENSG00000231509 GC09M005608 LOC105375967
GH09I005589 Enhancer 1 Ensembl ENCODE 10.7 -250.7 -250717 1.2 HDGF IRF4 RAD21 ZNF143 IKZF2 RUNX3 CREM DEK SMARCA5 ZNF654 CD274 PLGRKT PDCD1LG2 RLN2 HMGN2P31 ENSG00000231509 GC09M005608 LOC105375967
GH09I005268 Enhancer 0.8 Ensembl ENCODE 11.6 +70.1 70115 2.5 NCOA3 USF1 JUN DPF2 CEBPG RFX5 FOXA1 TEAD3 SP1 JUND INSL4 HMGN2P31 RLN2 GC09M005299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RLN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RLN2 gene promoter:

Genomic Locations for RLN2 Gene

Genomic Locations for RLN2 Gene
chr9:5,299,864-5,339,412
(GRCh38/hg38)
Size:
39,549 bases
Orientation:
Minus strand
chr9:5,299,868-5,304,969
(GRCh37/hg19)

Genomic View for RLN2 Gene

Genes around RLN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RLN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RLN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RLN2 Gene

Proteins for RLN2 Gene

  • Protein details for RLN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04090-REL2_HUMAN
    Recommended name:
    Prorelaxin H2
    Protein Accession:
    P04090
    Secondary Accessions:
    • A0AVM0
    • Q99936
    • Q9UCX3
    • Q9UQJ2

    Protein attributes for RLN2 Gene

    Size:
    185 amino acids
    Molecular mass:
    21043 Da
    Quaternary structure:
    • Heterodimer of a B chain and an A chain linked by two disulfide bonds.

    Three dimensional structures from OCA and Proteopedia for RLN2 Gene

    Alternative splice isoforms for RLN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RLN2 Gene

Post-translational modifications for RLN2 Gene

No Post-translational modifications

Other Protein References for RLN2 Gene

No data available for DME Specific Peptides for RLN2 Gene

Domains & Families for RLN2 Gene

Gene Families for RLN2 Gene

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

Protein Domains for RLN2 Gene

Suggested Antigen Peptide Sequences for RLN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04090

UniProtKB/Swiss-Prot:

REL2_HUMAN :
  • Belongs to the insulin family.
Family:
  • Belongs to the insulin family.
genes like me logo Genes that share domains with RLN2: view

Function for RLN2 Gene

Molecular function for RLN2 Gene

GENATLAS Biochemistry:
relaxin 2 (H2)
UniProtKB/Swiss-Prot Function:
Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.

Phenotypes From GWAS Catalog for RLN2 Gene

Gene Ontology (GO) - Molecular Function for RLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
genes like me logo Genes that share ontologies with RLN2: view
genes like me logo Genes that share phenotypes with RLN2: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RLN2 Gene

Localization for RLN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RLN2 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 RLN2 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for RLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with RLN2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RLN2 Gene

Pathways & Interactions for RLN2 Gene

genes like me logo Genes that share pathways with RLN2: view

SIGNOR curated interactions for RLN2 Gene

Activates:

Gene Ontology (GO) - Biological Process for RLN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007565 female pregnancy TAS 6548702
GO:0010469 regulation of receptor activity IEA --
GO:0010628 positive regulation of gene expression IDA 11459784
GO:0030819 positive regulation of cAMP biosynthetic process IDA 16569707
genes like me logo Genes that share ontologies with RLN2: view

Drugs & Compounds for RLN2 Gene

(1) Additional Compounds for RLN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RLN2: view

Transcripts for RLN2 Gene

mRNA/cDNA for RLN2 Gene

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

Unigene Clusters for RLN2 Gene

Relaxin 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for RLN2 Gene

No ASD Table

Relevant External Links for RLN2 Gene

GeneLoc Exon Structure for
RLN2
ECgene alternative splicing isoforms for
RLN2

Expression for RLN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RLN2 Gene

mRNA differential expression in normal tissues according to GTEx for RLN2 Gene

This gene is overexpressed in Pituitary (x7.3), Testis (x5.5), and Prostate (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of RLN2 Gene:

RLN2

SOURCE GeneReport for Unigene cluster for RLN2 Gene:

Hs.127032

mRNA Expression by UniProt/SwissProt for RLN2 Gene:

P04090-REL2_HUMAN
Tissue specificity: Isoform 1 is expressed in the ovary during pregnancy. Also expressed in placenta, decidua and prostate. Isoform 2 is relatively abundant in placenta. It is in much lower abundance in the prostate gland. Not detected in the ovary.

Evidence on tissue expression from TISSUES for RLN2 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with RLN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RLN2 Gene

Orthologs for RLN2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for RLN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RLN2 33
  • 98.92 (n)
-- 34
  • 85 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RLN1 33 34
  • 63.84 (n)
mouse
(Mus musculus)
Mammalia Rln1 34
  • 47 (a)
OneToMany
Species where no ortholog for RLN2 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • zebrafish (Danio rerio)

Evolution for RLN2 Gene

ENSEMBL:
Gene Tree for RLN2 (if available)
TreeFam:
Gene Tree for RLN2 (if available)

Paralogs for RLN2 Gene

Paralogs for RLN2 Gene

(1) SIMAP similar genes for RLN2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for RLN2 Gene

genes like me logo Genes that share paralogs with RLN2: view

Variants for RLN2 Gene

Sequence variations from dbSNP and Humsavar for RLN2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000250481 -- 5,301,742(-) G/A intron_variant
rs1000596827 -- 5,307,305(-) ATAGATGA/ upstream_transcript_variant
rs1001926335 -- 5,300,606(-) C/T intron_variant
rs1001956082 -- 5,300,830(-) C/A intron_variant
rs1002300564 -- 5,306,543(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RLN2 Gene

Variant ID Type Subtype PubMed ID
dgv12483n54 CNV loss 21841781
dgv12484n54 CNV gain+loss 21841781
esv2759660 CNV loss 17122850
esv2761296 CNV gain+loss 21179565
esv3544463 CNV deletion 23714750
esv3619374 CNV loss 21293372
esv3619375 CNV gain 21293372
esv3891535 CNV loss 25118596
esv3891538 CNV gain 25118596
esv3891539 CNV loss 25118596
nsv1161828 OTHER complex 26073780
nsv466102 CNV loss 19166990
nsv516752 CNV gain+loss 19592680
nsv527495 CNV gain 19592680
nsv613181 CNV loss 21841781
nsv613182 CNV loss 21841781
nsv824828 CNV loss 20364138
nsv831495 CNV loss 17160897

Variation tolerance for RLN2 Gene

Residual Variation Intolerance Score: 89.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 34.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RLN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RLN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RLN2 Gene

Disorders for RLN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RLN2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RLN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RLN2

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 RLN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RLN2 Gene

Publications for RLN2 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 22 44 58
  2. Relaxin gene expression in human ovaries and the predicted structure of a human preprorelaxin by analysis of cDNA clones. (PMID: 6548702) Hudson P … Niall H (The EMBO journal 1984) 2 3 4 58
  3. An optimized chemical synthesis of human relaxin-2. (PMID: 20191607) Barlos KK … Barlos K (Journal of peptide science : an official publication of the European Peptide Society 2010) 3 22 58
  4. Relaxin inhibits renal myofibroblast differentiation via RXFP1, the nitric oxide pathway, and Smad2. (PMID: 19073841) Mookerjee I … Samuel CS (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 22 58
  5. Autoregulation of human relaxin-2 gene expression critically involves relaxin and glucocorticoid receptor binding to glucocorticoid response half-sites in the relaxin-2 promoter. (PMID: 19289144) Dschietzig T … Stangl K (Regulatory peptides 2009) 3 22 58

Products for RLN2 Gene

Sources for RLN2 Gene

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