RGS4
regulator of G protein signaling 4, the group of Regulators of G-protein signaling
Basic information
Region (hg38): 1:163068775-163076802
Previous symbols: [ "SCZD9" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS4 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 | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 1 | 0 |
Variants in RGS4
This is a list of pathogenic ClinVar variants found in the RGS4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-163068978-G-A | not specified | Likely benign (Jul 27, 2021) | ||
| 1-163069254-G-T | not specified | Uncertain significance (Dec 03, 2021) | ||
| 1-163069282-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
| 1-163069317-G-T | not specified | Uncertain significance (Oct 12, 2021) | ||
| 1-163069320-C-A | not specified | Uncertain significance (Jun 13, 2024) | ||
| 1-163069321-G-T | not specified | Uncertain significance (Apr 16, 2024) | ||
| 1-163069348-C-A | not specified | Uncertain significance (Jun 30, 2022) | ||
| 1-163069423-G-T | not specified | Uncertain significance (Feb 10, 2023) | ||
| 1-163069438-C-T | not specified | Uncertain significance (Feb 21, 2024) | ||
| 1-163072439-C-T | not specified | Uncertain significance (Jul 26, 2022) | ||
| 1-163073464-G-A | not specified | Uncertain significance (May 26, 2024) | ||
| 1-163073476-G-A | not specified | Uncertain significance (Jun 06, 2022) | ||
| 1-163073582-A-G | not specified | Uncertain significance (Jun 06, 2023) | ||
| 1-163074337-G-A | not specified | Uncertain significance (Nov 10, 2023) | ||
| 1-163074342-A-T | not specified | Uncertain significance (Aug 17, 2021) | ||
| 1-163074393-G-A | not specified | Uncertain significance (Oct 05, 2023) | ||
| 1-163074439-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
| 1-163074465-C-A | not specified | Uncertain significance (Aug 31, 2022) | ||
| 1-163074481-C-G | not specified | Uncertain significance (Jan 04, 2024) | ||
| 1-163074481-C-T | not specified | Uncertain significance (Aug 28, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RGS4 | protein_coding | protein_coding | ENST00000421743 | 6 | 8028 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 5.14e-8 | 0.234 | 125704 | 0 | 15 | 125719 | 0.0000597 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.120 | 151 | 155 | 0.973 | 0.00000754 | 1982 |
| Missense in Polyphen | 24 | 33.974 | 0.70642 | 470 | ||
| Synonymous | -0.0943 | 58 | 57.1 | 1.02 | 0.00000262 | 558 |
| Loss of Function | 0.371 | 12 | 13.5 | 0.891 | 6.37e-7 | 179 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000180 | 0.000163 |
| Finnish | 0.0000464 | 0.0000462 |
| European (Non-Finnish) | 0.0000895 | 0.0000879 |
| Middle Eastern | 0.000180 | 0.000163 |
| South Asian | 0.0000327 | 0.0000327 |
| 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. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)-alpha-1 is inhibited by palmitoylation of the G-protein.;
- Disease
- DISEASE: Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:12023979, ECO:0000269|PubMed:14755443}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.;
- 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;G alpha (z) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.281
Intolerance Scores
- loftool
- 0.879
- rvis_EVS
- -0.07
- rvis_percentile_EVS
- 48.12
Haploinsufficiency Scores
- pHI
- 0.163
- hipred
- N
- hipred_score
- 0.372
- ghis
- 0.596
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.925
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs4
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); reproductive system phenotype; 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); 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); immune system phenotype; skeleton phenotype; renal/urinary system 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); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- rgs4
- Affected structure
- Rohon-Beard neuron
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- inactivation of MAPK activity;response to amphetamine;G protein-coupled receptor signaling pathway;brain development;regulation of G protein-coupled receptor signaling pathway;positive regulation of heart rate;response to cocaine;response to morphine;positive regulation of GTPase activity;response to ethanol;regulation of calcium ion transport;negative regulation of dopamine receptor signaling pathway;negative regulation of cell growth involved in cardiac muscle cell development;regulation of actin filament organization;negative regulation of glycine import across plasma membrane;negative regulation of potassium ion transmembrane transport;dorsal root ganglion development;positive regulation of excitatory postsynaptic potential
- Cellular component
- nucleus;cytoplasm;cytosol;plasma membrane;protein-containing complex
- Molecular function
- G-protein alpha-subunit binding;GTPase activator activity;calmodulin binding