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    RLN3 relaxin 3 [ Homo sapiens (human) ]

    Gene ID: 117579, updated on 27-Nov-2024

    Summary

    Official Symbol
    RLN3provided by HGNC
    Official Full Name
    relaxin 3provided by HGNC
    Primary source
    HGNC:HGNC:17135
    See related
    Ensembl:ENSG00000171136 MIM:606855; AllianceGenome:HGNC:17135
    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
    H3; RXN3; ZINS4; insl7
    Summary
    This gene encodes a member of the relaxin family of insulin-like hormones that is expressed predominantly in the brain and plays a role in physiological processes such as stress, memory and appetite regulation. The encoded protein is a precursor that is proteolytically processed to generate a heterodimeric mature form consisting A and B chains interlinked by disulfide bonds. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RLN3 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14028148..14031551)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14154437..14157840)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14138960..14142363)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene podocan like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14069830-14070403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14070404-14070976 Neighboring gene DDB1 and CUL4 associated factor 15 Neighboring gene regulatory factor X1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090312-14090838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090839-14091365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14091366-14091891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14093768-14094294 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14096053-14096944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14097836-14098726 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116358-14116886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116887-14117414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14117415-14117942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14134324-14134824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14134825-14135325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10225 Neighboring gene interleukin 27 receptor subunit alpha Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14153631-14154131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14166912-14167412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14167413-14167913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14172829-14173383 Neighboring gene paralemmin 3

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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
    relaxin-3
    Names
    insulin-like peptide 7
    insulin-like peptide INSL7
    prorelaxin H3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001311197.2NP_001298126.1  relaxin-3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon, which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC022098, AY358181, BC110069, BC140935
      Consensus CDS
      CCDS82304.1
      UniProtKB/TrEMBL
      K7ENX1
      Related
      ENSP00000467130.1, ENST00000585987.1
      Conserved Domains (1) summary
      cd04365
      Location:3155
      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_080864.4NP_543140.1  relaxin-3 preproprotein

      See identical proteins and their annotated locations for NP_543140.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC022098, AY358181, BC140935
      Consensus CDS
      CCDS12302.1
      UniProtKB/Swiss-Prot
      Q6UXW5, Q8WXF3
      UniProtKB/TrEMBL
      B2RU28
      Related
      ENSP00000397415.2, ENST00000431365.3
      Conserved Domains (1) summary
      cd04365
      Location:31142
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      14028148..14031551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      239989..243392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14154437..14157840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)