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

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: mouse all
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Genomic context

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_000013.11 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 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?

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
Title: Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
Discovery of RXFP2 genetic association in resistant hypertensive men and RXFP2 antagonists for the treatment of resistant hypertension.
Title: Discovery of RXFP2 genetic association in resistant hypertensive men and RXFP2 antagonists for the treatment of resistant hypertension.
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
Title: Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
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.
Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3.
Title: Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3.
Human amniotic fluid-based exposure levels of phthalates and bisphenol A mixture reduce INSL3/RXFP2 signaling.
Title: Human amniotic fluid-based exposure levels of phthalates and bisphenol A mixture reduce INSL3/RXFP2 signaling.
Recessive variants in the RXFP2 gene underlie familial cryptorchidism.
Title: Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.
In the TMD discovery cohort, sex-stratified analysis identified 2 additional genome-wide significant loci in females. One lying upstream of the relaxin/insulin-like family peptide receptor 2 ( RXP2) (chromosome 13, rs60249166,[OR] = 0.65, P = 3.6 x 10(-8)) was replicated among females in the meta-analysis (1-tailed P = 0.052). The other (chromosome 17, rs1531554, OR = 0.68, P = 2.9 x 10(-8)) was replicated among f
Title: GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos.
Mapping key regions of the RXFP2 low-density lipoprotein class-A module that are involved in signal activation.
Title: Mapping key regions of the RXFP2 low-density lipoprotein class-A module that are involved in signal activation.
Findings suggest a novel and gender-specific role for INSL3 and cognate receptor RXFP2 signaling in ocular surface homeostasis.
Title: Insulin-like factor 3 promotes wound healing at the ocular surface.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

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

D13S1700 (e-PCR)
- UniSTS:473769

RH120605 (e-PCR)
- UniSTS:132547

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

Process	Evidence Code	Pubs
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in hormone-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cAMP-mediated signaling	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

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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)

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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.

Genomic

NG_015819.1 RefSeqGene

Range

4985..68848

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166058.2 → NP_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:45 → 80

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:155 → 283

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:139 → 162

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:282 → 317

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:161 → 221

LRR_8; Leucine rich repeat

cl21561
Location:400 → 604

7tm_4; Olfactory receptor
NM_130806.5 → NP_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:45 → 80

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:155 → 303

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:139 → 162

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:305 → 341

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:282 → 341

LRR_8; Leucine rich repeat

cl21561
Location:424 → 628

7tm_4; Olfactory receptor