RLN2
relaxin 2, the group of Neuropeptides
Basic information
Region (hg38): 9:5299863-5304716
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (10 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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 7 | 2 | 1 | 10 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 2 | 1 |
Variants in RLN2
This is a list of pathogenic ClinVar variants found in the RLN2 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-5300174-C-G | Inborn genetic diseases | Uncertain significance (Oct 20, 2021) | ||
| 9-5300183-C-G | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | ||
| 9-5300223-G-A | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | ||
| 9-5300268-T-C | Benign (Aug 16, 2018) | |||
| 9-5300316-G-C | Inborn genetic diseases | Uncertain significance (May 09, 2023) | ||
| 9-5300385-C-G | Inborn genetic diseases | Uncertain significance (Sep 15, 2021) | ||
| 9-5300414-G-A | Inborn genetic diseases | Uncertain significance (Dec 20, 2021) | ||
| 9-5304384-G-C | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | ||
| 9-5304394-G-C | Inborn genetic diseases | Uncertain significance (May 11, 2022) | ||
| 9-5304462-A-G | Inborn genetic diseases | Uncertain significance (Jul 05, 2023) | ||
| 9-5304505-A-T | Inborn genetic diseases | Uncertain significance (Oct 29, 2021) | ||
| 9-5304507-T-G | Inborn genetic diseases | Likely benign (Oct 29, 2021) | ||
| 9-5304563-A-C | Inborn genetic diseases | Likely benign (Oct 04, 2022) |
GnomAD
Source:
| 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:
- 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
| 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