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

ENSG00000117152 ∙ NCBI:5999 ∙ OMIM:602516 ∙ HGNC:10000 ∙ Uniprot:P49798 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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	1		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)
1-163069348-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)
1-163073476-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)
1-163074465-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: gnomAD

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: 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

	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