Menu
GeneBe

RLN2

relaxin 2, the group of Neuropeptides

Basic information

Region (hg38): 9:5299863-5304716

Links

ENSG00000107014NCBI:6019OMIM:179740HGNC:10027Uniprot:P04090AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (12 variants)
  • not provided (1 variants)

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
0
missense
10
clinvar
2
clinvar
1
clinvar
13
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 10 2 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)2221215
9-5300176-C-G not specified Uncertain significance (Mar 01, 2024)3154764
9-5300183-C-G not specified Uncertain significance (Aug 10, 2021)2221214
9-5300223-G-A not specified Uncertain significance (Oct 26, 2021)2308798
9-5300231-T-C not specified Uncertain significance (Mar 07, 2024)3154763
9-5300268-T-C Benign (Aug 16, 2018)716095
9-5300316-G-C not specified Uncertain significance (May 09, 2023)2545835
9-5300385-C-G not specified Uncertain significance (Sep 15, 2021)2409796
9-5300414-G-A not specified Uncertain significance (Dec 20, 2021)2220451
9-5300423-T-C not specified Uncertain significance (Jan 31, 2024)3154761
9-5300437-C-T not specified Likely benign (Feb 21, 2024)3154760
9-5304384-G-C not specified Uncertain significance (Sep 22, 2022)2367874
9-5304394-G-C not specified Uncertain significance (May 11, 2022)2289277
9-5304420-T-A not specified Uncertain significance (Feb 26, 2024)3154759
9-5304462-A-G not specified Uncertain significance (Jul 05, 2023)2592466
9-5304505-A-T not specified Uncertain significance (Dec 28, 2023)2359341
9-5304507-T-G not specified Likely benign (Oct 29, 2021)2359340
9-5304563-A-C not specified Likely benign (Oct 04, 2022)2353825

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RLN2protein_codingprotein_codingENST00000381627 25102
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0009000.3621168160121168280.0000514
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.3213699.11.370.000005051201
Missense in Polyphen3731.3141.1816395
Synonymous-0.7484438.11.150.00000203353
Loss of Function-0.44343.151.271.37e-736

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0004070.000407
Finnish0.000.00
European (Non-Finnish)0.00002800.0000278
Middle Eastern0.0004070.000407
South Asian0.00007570.0000745
Other0.000.00

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
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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