Description: Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA. RefSeq Summary (NM_134441): 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]. Transcript (Including UTRs) Position: hg19 chr9:5,299,866-5,304,611 Size: 4,746 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr9:5,300,098-5,304,580 Size: 4,483 Coding Exon Count: 2
ID:REL2_HUMAN DESCRIPTION: RecName: Full=Prorelaxin H2; Contains: RecName: Full=Relaxin B chain; Contains: RecName: Full=Relaxin A chain; Flags: Precursor; 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. SUBUNIT: Heterodimer of a B chain and an A chain linked by two disulfide bonds. SUBCELLULAR LOCATION: Secreted. 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. SIMILARITY: Belongs to the insulin family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RLN2 CDC HuGE Published Literature: RLN2 Positive Disease Associations: Fibrinogen Related Studies:
Fibrinogen Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903294]
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P04090
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
