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

Gene ID: 122042, updated on 21-Dec-2019

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
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

Genomic context

See RXFP2 in Genome Data Viewer
Location:
13q13.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (31739526..31803389)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32313679..32377009)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene beta 3-glucosyltransferase Neighboring gene ankyrin repeat domain 26 pseudogene 4 Neighboring gene uncharacterized LOC105370150 Neighboring gene uncharacterized LOC105370152 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 3 Neighboring gene FRY antisense RNA 1

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone binding IEA
Inferred from Electronic Annotation
more info
 
protein-hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
oocyte maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cAMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001166058.1NP_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
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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