RXFP2

relaxin family peptide receptor 2, the group of Relaxin family peptide receptors

Basic information

Region (hg38): 13:31739525-31803389

Previous symbols: [ "LGR8" ]

Links

ENSG00000133105 ∙ NCBI:122042 ∙ OMIM:606655 ∙ HGNC:17318 ∙ Uniprot:Q8WXD0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• cryptorchidism (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cryptorchidism	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	12217959; 12970298

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RXFP2 gene.

• Bilateral cryptorchidism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RXFP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					3	3
missense		1	37	6	1	45
nonsense						0
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)					2	2
splice region					1	1
non coding					27	27
Total	1	1	37	6	33

Variants in RXFP2

This is a list of pathogenic ClinVar variants found in the RXFP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-31739639-T-A		not specified	Uncertain significance (Mar 30, 2024)
13-31739653-G-C		not specified	Uncertain significance (Apr 09, 2024)
13-31739671-T-G		not specified	Uncertain significance (Jan 04, 2024)
13-31739685-A-G		not specified	Uncertain significance (Jun 09, 2022)
13-31757975-T-C			Benign (Jun 19, 2021)
13-31758080-G-A			Benign (Jun 19, 2021)
13-31758155-C-G			Benign (Jun 20, 2021)
13-31758267-T-C		not specified	Uncertain significance (Apr 08, 2024)
13-31758273-A-C		not specified	Uncertain significance (Sep 13, 2023)
13-31758288-C-T		not specified	Uncertain significance (Jun 16, 2024)
13-31758296-T-C		not specified	Uncertain significance (Apr 26, 2023)
13-31758378-G-A		not specified	Uncertain significance (Apr 07, 2022)
13-31758383-G-A		not specified	Uncertain significance (Sep 16, 2021)
13-31758390-A-G		not specified	Uncertain significance (Mar 20, 2023)
13-31758400-C-A		not specified	Uncertain significance (Jun 23, 2021)
13-31758400-C-G		not specified	Uncertain significance (Mar 29, 2022)
13-31758419-C-T			Benign (Nov 12, 2018)
13-31758524-T-C			Benign (Nov 12, 2018)
13-31758543-T-C			Benign (Jun 19, 2021)
13-31761703-A-T			Benign (Nov 12, 2018)
13-31761733-G-A		not specified	Uncertain significance (Aug 31, 2022)
13-31761742-C-T		not specified	Uncertain significance (Oct 26, 2022)
13-31761743-G-A			Benign (Jun 09, 2021)
13-31761903-C-T			Benign (Jun 19, 2021)
13-31764707-TACTC-T			Benign (Jun 19, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RXFP2	protein_coding	protein_coding	ENST00000298386	18	63336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.90e-16	0.414	125631	0	117	125748	0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.894	345	395	0.873	0.0000197	5002
Missense in Polyphen		82	108.74	0.7541		1418
Synonymous	0.234	140	144	0.975	0.00000802	1382
Loss of Function	1.54	29	39.4	0.736	0.00000206	481

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000962	0.000962
Ashkenazi Jewish	0.000300	0.000298
East Asian	0.00125	0.00125
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000503	0.000501
Middle Eastern	0.00125	0.00125
South Asian	0.000131	0.000131
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3).
• Pathway: Relaxin signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Myometrial Relaxation and Contraction Pathways;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Relaxin receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.569
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.56

Haploinsufficiency Scores

• pHI: 0.166
• hipred: N
• hipred_score: 0.280

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0535

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rxfp2
• Phenotype: hematopoietic system phenotype; reproductive system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; renal/urinary system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: oocyte maturation;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;negative regulation of cell population proliferation;male gonad development;hormone-mediated signaling pathway;negative regulation of apoptotic process;positive regulation of cAMP-mediated signaling
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled peptide receptor activity;protein-hormone receptor activity;peptide hormone binding