RLN2

relaxin 2, the group of Neuropeptides

Basic information

Region (hg38): 9:5299864-5304716

Links

ENSG00000107014 ∙ NCBI:6019 ∙ OMIM:179740 ∙ HGNC:10027 ∙ Uniprot:P04090 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RLN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RLN2 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				1		1
missense			14	2	1	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	3	1

Variants in RLN2

This is a list of pathogenic ClinVar variants found in the RLN2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-5300174-C-G		not specified	Uncertain significance (Oct 20, 2021)
9-5300176-C-G		not specified	Uncertain significance (Mar 01, 2024)
9-5300183-C-G		not specified	Uncertain significance (Aug 10, 2021)
9-5300223-G-A		not specified	Uncertain significance (Oct 26, 2021)
9-5300231-T-C		not specified	Uncertain significance (Mar 07, 2024)
9-5300268-T-C			Benign (Aug 16, 2018)
9-5300316-G-C		not specified	Uncertain significance (May 09, 2023)
9-5300385-C-G		not specified	Uncertain significance (Sep 15, 2021)
9-5300414-G-A		not specified	Uncertain significance (Dec 20, 2021)
9-5300423-T-C		not specified	Uncertain significance (Jan 31, 2024)
9-5300437-C-T		not specified	Likely benign (Feb 21, 2024)
9-5304384-G-C		not specified	Uncertain significance (Sep 22, 2022)
9-5304394-G-C		not specified	Uncertain significance (May 11, 2022)
9-5304420-T-A		not specified	Uncertain significance (Feb 26, 2024)
9-5304462-A-G		not specified	Uncertain significance (Jul 05, 2023)
9-5304502-A-C		not specified	Uncertain significance (Apr 26, 2024)
9-5304505-A-T		not specified	Uncertain significance (Dec 28, 2023)
9-5304507-T-G		not specified	Likely benign (Oct 29, 2021)
9-5304519-C-T		not specified	Uncertain significance (May 13, 2024)
9-5304563-A-C		not specified	Likely benign (Oct 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RLN2	protein_coding	protein_coding	ENST00000381627	2	5102

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000900	0.362	116816	0	12	116828	0.0000514

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.32	136	99.1	1.37	0.00000505	1201
Missense in Polyphen		37	31.314	1.1816		395
Synonymous	-0.748	44	38.1	1.15	0.00000203	353
Loss of Function	-0.443	4	3.15	1.27	1.37e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000407	0.000407
Finnish	0.00	0.00
European (Non-Finnish)	0.0000280	0.0000278
Middle Eastern	0.000407	0.000407
South Asian	0.0000757	0.0000745
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.
• Pathway: Relaxin signaling pathway - Homo sapiens (human);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)

Intolerance Scores

• loftool: 0.495
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.37

Haploinsufficiency Scores

• pHI: 0.214
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0851

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rln1
• Phenotype: endocrine/exocrine gland 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); homeostasis/metabolism phenotype; cellular phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;female pregnancy;regulation of signaling receptor activity;positive regulation of gene expression;positive regulation of angiogenesis;regulation of catalytic activity
• Cellular component: extracellular region
• Molecular function: hormone activity