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GeneBe

RGS4

regulator of G protein signaling 4, the group of Regulators of G-protein signaling

Basic information

Region (hg38): 1:163068774-163076802

Previous symbols: [ "SCZD9" ]

Links

ENSG00000117152NCBI:5999OMIM:602516HGNC:10000Uniprot:P49798AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RGS4 gene.

  • Inborn genetic diseases (12 variants)

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
11
clinvar
1
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 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 Inborn genetic diseases Likely benign (Jul 27, 2021)2407598
1-163069254-G-T Inborn genetic diseases Uncertain significance (Dec 03, 2021)2338099
1-163069282-C-T Inborn genetic diseases Uncertain significance (Jan 26, 2022)2395459
1-163069317-G-T Inborn genetic diseases Uncertain significance (Oct 12, 2021)2350784
1-163069348-C-A Inborn genetic diseases Uncertain significance (Jun 30, 2022)2220400
1-163069423-G-T Inborn genetic diseases Uncertain significance (Feb 10, 2023)2459444
1-163072439-C-T Inborn genetic diseases Uncertain significance (Jul 26, 2022)2303420
1-163073476-G-A Inborn genetic diseases Uncertain significance (Jun 06, 2022)2353579
1-163073582-A-G Inborn genetic diseases Uncertain significance (Jun 06, 2023)2558084
1-163074342-A-T Inborn genetic diseases Uncertain significance (Aug 17, 2021)2246155
1-163074465-C-A Inborn genetic diseases Uncertain significance (Aug 31, 2022)2309855
1-163074481-C-T Inborn genetic diseases Uncertain significance (Aug 28, 2023)2589105

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RGS4protein_codingprotein_codingENST00000421743 68028
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.14e-80.2341257040151257190.0000597
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1201511550.9730.000007541982
Missense in Polyphen2433.9740.70642470
Synonymous-0.09435857.11.020.00000262558
Loss of Function0.3711213.50.8916.37e-7179

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.0001800.000163
Finnish0.00004640.0000462
European (Non-Finnish)0.00008950.0000879
Middle Eastern0.0001800.000163
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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