RGS12

regulator of G protein signaling 12, the group of PDZ domain containing|Regulators of G-protein signaling

Basic information

Region (hg38): 4:3293020-3439913

Links

ENSG00000159788 ∙ NCBI:6002 ∙ OMIM:602512 ∙ HGNC:9994 ∙ Uniprot:O14924 ∙ 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 RGS12 gene.

• Inborn genetic diseases (66 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS12 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				4	1	5
missense			63	5		68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	63	9	1

Variants in RGS12

This is a list of pathogenic ClinVar variants found in the RGS12 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-3316235-G-A		not specified	Uncertain significance (Feb 12, 2024)
4-3316250-G-A		not specified	Uncertain significance (Sep 26, 2023)
4-3316468-G-A		not specified	Uncertain significance (Oct 13, 2023)
4-3316474-T-C		not specified	Likely benign (Jul 05, 2023)
4-3316489-A-T		not specified	Uncertain significance (Oct 17, 2023)
4-3316497-A-C		not specified	Uncertain significance (Jan 30, 2024)
4-3316511-A-G		not specified	Uncertain significance (Jan 29, 2024)
4-3316774-G-A		not specified	Uncertain significance (Feb 28, 2024)
4-3316775-T-C		not specified	Uncertain significance (Feb 12, 2024)
4-3316781-A-T		not specified	Uncertain significance (Feb 07, 2023)
4-3316856-C-T		not specified	Uncertain significance (Nov 18, 2022)
4-3316904-C-G		not specified	Likely benign (Feb 27, 2024)
4-3317044-G-A		not specified	Uncertain significance (Sep 29, 2022)
4-3317080-G-A		not specified	Uncertain significance (May 04, 2022)
4-3317087-C-T		not specified	Uncertain significance (Jan 04, 2024)
4-3317119-A-G		not specified	Uncertain significance (Oct 12, 2022)
4-3317133-C-G			Likely benign (Aug 01, 2018)
4-3317137-G-A		not specified	Uncertain significance (Feb 28, 2024)
4-3317164-G-A		not specified	Uncertain significance (Apr 12, 2022)
4-3317205-C-G		not specified	Uncertain significance (Dec 19, 2022)
4-3317240-G-T		not specified	Uncertain significance (Jan 23, 2023)
4-3317285-G-C		not specified	Uncertain significance (Sep 07, 2022)
4-3317300-C-T		not specified	Uncertain significance (Apr 25, 2022)
4-3317308-C-T		not specified	Uncertain significance (Sep 29, 2023)
4-3317342-G-A		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RGS12	protein_coding	protein_coding	ENST00000344733	17	146886

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.09e-9	1.00	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.614	873	926	0.943	0.0000609	9426
Missense in Polyphen		264	325.53	0.81098		3173
Synonymous	-1.39	439	403	1.09	0.0000299	2974
Loss of Function	3.94	24	55.7	0.431	0.00000309	608

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000562	0.000560
Ashkenazi Jewish	0.00	0.00
East Asian	0.000328	0.000326
Finnish	0.0000943	0.0000924
European (Non-Finnish)	0.000258	0.000255
Middle Eastern	0.000328	0.000326
South Asian	0.000253	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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. {ECO:0000250|UniProtKB:O08774}.
• Pathway: 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)

Intolerance Scores

• loftool: 0.604
• rvis_EVS: -0.46
• rvis_percentile_EVS: 23.58

Haploinsufficiency Scores

• pHI: 0.229
• hipred: N
• hipred_score: 0.443
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.652

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rgs12
• Phenotype: hematopoietic system phenotype; normal phenotype; immune system phenotype; skeleton phenotype

Gene ontology

• Biological process: signal transduction;regulation of G protein-coupled receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity
• Cellular component: condensed nuclear chromosome;nucleus;nucleolus;cytoplasm;cytosol;nuclear matrix;cell junction;dendrite;synapse
• Molecular function: GTPase activator activity;GTPase regulator activity