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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 G alpha (s) signalling events and Signaling by GPCR. 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

Regulatory Elements for RLN2 Gene

Enhancers for RLN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H005585 1.3 FANTOM5 Ensembl ENCODE 10.7 -247.4 -247386 2 PKNOX1 BACH1 EBF1 BATF RELA POLR2A FOS RUNX3 IKZF2 CREM CD274 PLGRKT PDCD1LG2 RLN2 HMGN2P31 RIC1 ENSG00000231509 GC09M005608
GH09H005589 1.1 Ensembl ENCODE 10.7 -250.7 -250718 1 HDGF CTCF MAX CEBPG RAD21 IRF9 CC2D1A GATA3 EED SMC3 CD274 PLGRKT PDCD1LG2 RLN2 HMGN2P31 ENSG00000231509 GC09M005608
GH09H005268 0.9 Ensembl ENCODE 11.6 +70.1 70115 2 JUN CEBPG DPF2 RFX5 TEAD3 FOXA1 JUND CREB1 INSL4 HMGN2P31 RLN2 GC09M005299
GH09H005593 0.8 ENCODE 10.7 -254.7 -254708 0 TBL1XR1 BMI1 BATF ATF7 RUNX3 IKZF2 CREM CBFB JUNB ELF1 CD274 PLGRKT PDCD1LG2 RLN2 HMGN2P31 JAK2 ENSG00000231509 GC09M005608
GH09H005360 0.2 ENCODE 11.4 -22.8 -22760 2 PLGRKT RLN2 HMGN2P31 ENSG00000231967 GC09M005367
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RLN2 on UCSC Golden Path with GeneCards custom track

Promoters for RLN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000232817 112 1001 ZEB2 ZNF501

Genomic Location for RLN2 Gene

Chromosome:
9
Start:
5,299,864 bp from pter
End:
5,339,412 bp from pter
Size:
39,549 bases
Orientation:
Minus strand

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.

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RLN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0007565 female pregnancy TAS 6548702
GO:0010628 positive regulation of gene expression IDA 11459784
GO:0030819 positive regulation of cAMP biosynthetic process IDA 16569707
GO:0045766 positive regulation of angiogenesis IMP 16049981
GO:0050790 regulation of catalytic activity IDA 16049981
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

Clone Products

  • Applied Biological Materials Clones for RLN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 Sequence Context AA Info Type
rs1000250481 -- 5,301,742(+) TCTGG(A/G)GCTGA intron-variant
rs1000596827 -- 5,307,305(+) GATAG(-/ATAGATGA)TAGAT upstream-variant-2KB, utr-variant-3-prime
rs1001926335 -- 5,300,606(+) GCTTA(C/T)TTACA intron-variant
rs1001956082 -- 5,300,830(+) ATTTT(A/C)TTCCA intron-variant
rs1002300564 -- 5,306,543(+) GCTTA(C/T)CCTAC downstream-variant-500B, upstream-variant-2KB

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)

Relevant External Links for RLN2 Gene

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

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

Relevant External Links for RLN2

Genetic Association Database (GAD)
RLN2
Human Genome Epidemiology (HuGE) Navigator
RLN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RLN2
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 45 60
  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 60
  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 60
  4. Estrogen and TCDD influence RLN2 gene activity in estrogen receptor-positive human breast cancer cells. (PMID: 19416221) Kietz S … Hombach-Klonisch S (Annals of the New York Academy of Sciences 2009) 3 22 60
  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 60

Products for RLN2 Gene

Sources for RLN2 Gene

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