RGS2
regulator of G protein signaling 2, the group of Regulators of G-protein signaling|Receptor ligands
Basic information
Region (hg38): 1:192809039-192812275
Previous symbols: [ "G0S8" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (15 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002923.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 0 | 1 | 15 | 1 | 0 |
Highest pathogenic variant AF is 0.000006816438
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RGS2 | protein_coding | protein_coding | ENST00000235382 | 5 | 3235 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000570 | 0.456 | 125711 | 0 | 37 | 125748 | 0.000147 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0103 | 105 | 105 | 1.00 | 0.00000513 | 1409 |
| Missense in Polyphen | 33 | 38.93 | 0.84767 | 576 | ||
| Synonymous | -1.02 | 44 | 36.2 | 1.22 | 0.00000184 | 357 |
| Loss of Function | 0.570 | 9 | 11.0 | 0.815 | 4.78e-7 | 146 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000322 | 0.000322 |
| Ashkenazi Jewish | 0.0000992 | 0.0000992 |
| East Asian | 0.000272 | 0.000272 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000150 | 0.000149 |
| Middle Eastern | 0.000272 | 0.000272 |
| South Asian | 0.0000980 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11063746, PubMed:19478087). It is involved in the negative regulation of the angiotensin-activated signaling pathway (PubMed:28784619). Plays a role in the regulation of blood pressure in response to signaling via G protein-coupled receptors and GNAQ. Plays a role in regulating the constriction and relaxation of vascular smooth muscle (By similarity). Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein (PubMed:19736320). {ECO:0000250|UniProtKB:O08849, ECO:0000269|PubMed:11063746, ECO:0000269|PubMed:11278586, ECO:0000269|PubMed:17901199, ECO:0000269|PubMed:19736320, ECO:0000269|PubMed:28784619, ECO:0000305|PubMed:7643615}.;
- Pathway
- Oxytocin signaling pathway - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Olfactory transduction - Homo sapiens (human);Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-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;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.268
Intolerance Scores
- loftool
- 0.610
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.64
Haploinsufficiency Scores
- pHI
- 0.203
- hipred
- Y
- hipred_score
- 0.632
- ghis
- 0.528
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.838
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs2
- Phenotype
- renal/urinary system phenotype; immune system 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); 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; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); muscle phenotype;
Zebrafish Information Network
- Gene name
- rgs2
- Affected structure
- migratory neural crest
- Phenotype tag
- abnormal
- Phenotype quality
- increased occurrence
Gene ontology
- Biological process
- response to amphetamine;cell cycle;spermatogenesis;brain development;regulation of G protein-coupled receptor signaling pathway;negative regulation of phospholipase activity;negative regulation of cardiac muscle hypertrophy;positive regulation of neuron projection development;negative regulation of translation;ovulation;negative regulation of MAP kinase activity;positive regulation of GTPase activity;negative regulation of cAMP-mediated signaling;response to ethanol;negative regulation of G protein-coupled receptor signaling pathway;brown fat cell differentiation;relaxation of cardiac muscle;relaxation of vascular smooth muscle;maternal process involved in female pregnancy;positive regulation of cardiac muscle contraction;negative regulation of cell growth involved in cardiac muscle cell development;negative regulation of adenylate cyclase-inhibiting adrenergic receptor signaling pathway involved in heart process;negative regulation of glycine import across plasma membrane
- Cellular component
- nucleus;nucleolus;cytoplasm;mitochondrion;cytosol;plasma membrane;cytoplasmic side of plasma membrane;neuron projection
- Molecular function
- G-protein alpha-subunit binding;GTPase activator activity;protein binding;calmodulin binding;beta-tubulin binding