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    RXFP2 relaxin family peptide receptor 2 [ Homo sapiens (human) ]

    Gene ID: 122042, updated on 27-Nov-2024

    Summary

    Official Symbol
    RXFP2provided by HGNC
    Official Full Name
    relaxin family peptide receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:17318
    See related
    Ensembl:ENSG00000133105 MIM:606655; AllianceGenome:HGNC:17318
    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
    LGR8; GREAT; GPR106; INSL3R; LGR8.1; RXFPR2
    Summary
    This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RXFP2 in Genome Data Viewer
    Location:
    13q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (31739526..31803389)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (30962734..31026637)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32313663..32377526)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903148 Neighboring gene uncharacterized LOC105370150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5242 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:32181955-32182478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:32182479-32183002 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:32212414-32213613 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:32237605-32238162 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:32238163-32238718 Neighboring gene uncharacterized LOC105370152 Neighboring gene uncharacterized LOC124903150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:32420957-32421458 Neighboring gene uncharacterized LOC124900336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:32421459-32421958 Neighboring gene uncharacterized LOC124903149 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-07-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-07-06)

    ClinGen Genome Curation Page

    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 peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptide hormone binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    relaxin receptor 2
    Names
    G protein coupled receptor affecting testicular descent
    G-protein coupled receptor 106
    leucine-rich repeat-containing G-protein coupled receptor 8
    relaxin/insulin like family peptide receptor 2

    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.

    Genomic

    1. NG_015819.1 RefSeqGene

      Range
      4985..68848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166058.2NP_001159530.1  relaxin receptor 2 isoform 2

      See identical proteins and their annotated locations for NP_001159530.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AL138708, AL159161, AY899851
      Consensus CDS
      CCDS53862.1
      UniProtKB/Swiss-Prot
      Q8WXD0
      Related
      ENSP00000369670.1, ENST00000380314.2
      Conserved Domains (6) summary
      cd00112
      Location:4580
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00116
      Location:155283
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:139162
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:282317
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:161221
      LRR_8; Leucine rich repeat
      cl21561
      Location:400604
      7tm_4; Olfactory receptor
    2. NM_130806.5NP_570718.1  relaxin receptor 2 isoform 1

      See identical proteins and their annotated locations for NP_570718.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represented the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AF403384, AF453828, AL138708, AL159161
      Consensus CDS
      CCDS9342.1
      UniProtKB/Swiss-Prot
      B1ALE9, Q3KU23, Q8WXD0
      Related
      ENSP00000298386.2, ENST00000298386.7
      Conserved Domains (6) summary
      cd00112
      Location:4580
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00116
      Location:155303
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:139162
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:305341
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:282341
      LRR_8; Leucine rich repeat
      cl21561
      Location:424628
      7tm_4; Olfactory receptor

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      31739526..31803389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020389.2XP_016875878.1  relaxin receptor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      30962734..31026637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374098.1XP_054230073.1  relaxin receptor 2 isoform X1