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RLN2 relaxin 2 [ Homo sapiens (human) ]

Gene ID: 6019, updated on 5-Jan-2022

Summary

Official Symbol
RLN2provided by HGNC
Official Full Name
relaxin 2provided by HGNC
Primary source
HGNC:HGNC:10027
See related
Ensembl:ENSG00000107014 MIM:179740
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
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Genomic context

See RLN2 in Genome Data Viewer
Location:
9p24.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (5299864..5339438, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5299864..5304716, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Janus kinase 2 Neighboring gene insulin like 6 Neighboring gene uncharacterized LOC107987044 Neighboring gene immunoglobulin heavy constant epsilon P2 (pseudogene) Neighboring gene INSL4 promoter region Neighboring gene insulin like 4 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 31 Neighboring gene relaxin 1 Neighboring gene plasminogen receptor with a C-terminal lysine Neighboring gene ring finger protein 152 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9164 Neighboring gene CD274 molecule

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

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)

  1. NM_001329191.2NP_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:61100
    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), ...
  2. NM_005059.4NP_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:3154
    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), ...
  3. NM_134441.3NP_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
    P04090
    Related
    ENSP00000371040.3, ENST00000381627.4
    Conserved Domains (1) summary
    cd04365
    Location:31185
    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), ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    5299864..5339438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447647.1XP_024303415.1  prorelaxin H2 isoform X1

    Conserved Domains (1) summary
    cd04365
    Location:15169
    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), ...
  2. XM_024447646.1XP_024303414.1  prorelaxin H2 isoform X1

    Conserved Domains (1) summary
    cd04365
    Location:15169
    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), ...
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