RGS5
regulator of G protein signaling 5, the group of Regulators of G-protein signaling
Basic information
Region (hg38): 1:163111120-163321791
Links
Phenotypes
GenCC
Source:
- essential hypertension, genetic (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS5 gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 1 | 1 | ||||
missense | 4 | 4 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 4 | 0 | 1 |
Variants in RGS5
This is a list of pathogenic ClinVar variants found in the RGS5 region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-163147398-T-C | Inborn genetic diseases | Uncertain significance (Sep 01, 2021) | ||
1-163147479-C-T | Inborn genetic diseases | Uncertain significance (Sep 06, 2022) | ||
1-163152698-T-C | Inborn genetic diseases | Uncertain significance (Jul 12, 2022) | ||
1-163161938-A-G | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | ||
1-163168296-C-T | Benign (Apr 04, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RGS5 | protein_coding | protein_coding | ENST00000530507 | 5 | 210667 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000535 | 0.713 | 125720 | 0 | 23 | 125743 | 0.0000915 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.149 | 91 | 95.1 | 0.957 | 0.00000478 | 1228 |
Missense in Polyphen | 25 | 28.534 | 0.87615 | 391 | ||
Synonymous | 1.46 | 25 | 36.2 | 0.691 | 0.00000190 | 330 |
Loss of Function | 0.866 | 6 | 8.77 | 0.684 | 3.68e-7 | 118 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000219 | 0.000214 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000120 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000630 | 0.0000615 |
Middle Eastern | 0.000120 | 0.000109 |
South Asian | 0.000329 | 0.000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity). {ECO:0000250}.;
- Pathway
- Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.223
Intolerance Scores
- loftool
- 0.749
- rvis_EVS
- 0.04
- rvis_percentile_EVS
- 56.64
Haploinsufficiency Scores
- pHI
- 0.0828
- hipred
- Y
- hipred_score
- 0.667
- ghis
- 0.589
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.731
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs5
- Phenotype
- immune system phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal 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); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype;
Gene ontology
- Biological process
- regulation of G protein-coupled receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity
- Cellular component
- cytosol;membrane
- Molecular function
- GTPase activator activity