RLN2 relaxin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RLN2provided by HGNC
Official Full Name: relaxin 2provided by HGNC
Primary source: HGNC:HGNC:10027
See related: Ensembl:ENSG00000107014 MIM:179740; AllianceGenome:HGNC:10027
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H2; RLXH2; H2-RLX; bA12D24.1.1; bA12D24.1.2
Summary: 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]
Expression: Biased expression in prostate (RPKM 1.9), testis (RPKM 0.8) and 12 other tissues See more
Orthologs: all
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Genomic context

Location:: 9p24.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (5299864..5339326, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (5304955..5344419, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (5299864..5304716, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of breast milk beta-endorphin and relaxin-2 on infant colic.
Title: The role of breast milk beta-endorphin and relaxin-2 on infant colic.
The dual and multifaceted role of relaxin-2 in cancer.
Title: The dual and multifaceted role of relaxin-2 in cancer.
Relaxin-2 during pregnancy according to glycemia, continence status, and pelvic floor muscle function.
Title: Relaxin-2 during pregnancy according to glycemia, continence status, and pelvic floor muscle function.
Structural Insights into the Unique Modes of Relaxin-Binding and Tethered-Agonist Mediated Activation of RXFP1 and RXFP2.
Title: Structural Insights into the Unique Modes of Relaxin-Binding and Tethered-Agonist Mediated Activation of RXFP1 and RXFP2.
Recombinant human H2 relaxin (serelaxin) as a cardiovascular drug: aiming at the right target.
Title: Recombinant human H2 relaxin (serelaxin) as a cardiovascular drug: aiming at the right target.
Tissue-specific relaxin-2 is differentially associated with the presence/size of an arterial aneurysm and the severity of atherosclerotic disease in humans.
Title: Tissue-specific relaxin-2 is differentially associated with the presence/size of an arterial aneurysm and the severity of atherosclerotic disease in humans.
Investigated the potential beneficial effects and mechanisms of relaxin-2 on livers of two mouse models: high-fat diet (HFD)-induced non-alcoholic fatty liver disease (NAFLD) with simple steatosis, and methionine-choline-deficient (MCD) diet-induced non-alcoholic steatohepatitis (NASH).
Title: Human relaxin-2 attenuates hepatic steatosis and fibrosis in mice with non-alcoholic fatty liver disease.
The relaxin-2 mRNA and protein expression levels are decreased in the chronic rhinosinusitis with nasal polyps (CRSwNP) group compared with the chronic rhinosinusitis without nasal polyps (CRSsNP) group. The levels of TGF-beta1, collagen I, pSmad2/Smad3, Smad2, and Smad3 are decreased after relaxin-2 treatment ex vivo. However, relaxin-2, collagen I, pSmad2/Smad3, Smad2, and Smad3 levels are increased after TGF-beta1 t...
Title: The Role of Relaxin-2 in Tissue Remodeling of Chronic Rhinosinusitis With Nasal Polyps.
This work represents an advance in biomedical science because it shows that serum relaxin-2 could discriminate prostate cancer patients from healthy or BPH controls, so may represent a novel prognostic and diagnostic markers for prostate cancer
Title: Serum relaxin-2 as a novel biomarker for prostate cancer.
This study demonstrates the involvement of ADAM10 and PI3K/Akt signaling in mediating RLX-induced Notch-1 activation.
Title: Relaxin induces up-regulation of ADAM10 metalloprotease in RXFP1-expressing cells by PI3K/AKT signaling.

Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482836

NoName (e-PCR)
- UniSTS:494889

RLN1_1534 (e-PCR)
- UniSTS:277674

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in female pregnancy	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: prorelaxin H2

Names: H2-preprorelaxin; relaxin H2; relaxin, ovarian, of pregnancy

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001329191.2 → NP_001316120.1 prorelaxin H2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. The encoded isoform (3) has a shorter N-terminus and lacks the predicted signal peptide and the relaxin B chain compared to isoform 1.

Source sequence(s)

AI033912, AL135786

Conserved Domains (1) summary

cd04365
Location:61 → 100

IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...
NM_005059.4 → NP_005050.2 prorelaxin H2 isoform 2 precursor

See identical proteins and their annotated locations for NP_005050.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an additional alternate exon, resulting in a frameshift in the central and 3' coding regions, compared to variant 1. The encoded isoform (2) is shorter, has a distinct C-terminus and lacks the relaxin A chain compared to isoform 1.

Source sequence(s)

AA935560, AI033912, AL135786, BC126415, BG206251, BX094853

UniProtKB/Swiss-Prot

P04090

Conserved Domains (1) summary

cd04365
Location:31 → 54

IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...
NM_134441.3 → NP_604390.1 prorelaxin H2 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_604390.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AI033912, AL135786, BC126415, BG206251, BX094853

Consensus CDS

CCDS6460.1

UniProtKB/Swiss-Prot

A0AVM0, P04090, Q9UCX3, Q9UQJ2

Related

ENSP00000371040.3, ENST00000381627.4

Conserved Domains (1) summary

cd04365
Location:31 → 185

IlGF_relaxin_like; IlGF_like family, relaxin_like subgroup, specific to vertebrates. Members include a number of active peptides including (pro)relaxin, mammalian Leydig cell-specific insulin-like peptide (gene INSL3), early placenta insulin-like peptide (ELIP; gene INSL4), ...