GeneBe

RGS12

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

Basic information

Region (hg38): 4:3293021-3439913

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.

  • not_specified (237 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. These statistics are base on transcript: NM_001394154.1. 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.

EffectPLPVUSLBBSum
synonymous
4
clinvar
1
clinvar
 5
missense
226
clinvar
13
clinvar
 239
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 226 17 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RGS12protein_codingprotein_codingENST00000344733 17146886
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.09e-91.001256880601257480.000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6148739260.9430.00006099426
Missense in Polyphen264325.530.810983173
Synonymous-1.394394031.090.00002992974
Loss of Function3.942455.70.4310.00000309608

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005620.000560
Ashkenazi Jewish0.000.00
East Asian0.0003280.000326
Finnish0.00009430.0000924
European (Non-Finnish)0.0002580.000255
Middle Eastern0.0003280.000326
South Asian0.0002530.000229
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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