RGS14
regulator of G protein signaling 14, the group of Regulators of G-protein signaling
Basic information
Region (hg38): 5:177357924-177372596
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 RGS14 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 | 28 | 33 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 28 | 4 | 1 |
Variants in RGS14
This is a list of pathogenic ClinVar variants found in the RGS14 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-177358065-G-A | not specified | Uncertain significance (May 31, 2023) | ||
| 5-177358065-G-T | not specified | Uncertain significance (Feb 06, 2024) | ||
| 5-177366203-G-T | not specified | Uncertain significance (Dec 14, 2023) | ||
| 5-177366212-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
| 5-177366281-G-A | not specified | Uncertain significance (Nov 28, 2023) | ||
| 5-177366282-A-G | not specified | Uncertain significance (Jan 16, 2024) | ||
| 5-177366931-C-G | not specified | Uncertain significance (Mar 25, 2024) | ||
| 5-177366969-G-A | not specified | Uncertain significance (Feb 22, 2024) | ||
| 5-177367476-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
| 5-177367744-C-T | not specified | Uncertain significance (Jan 06, 2023) | ||
| 5-177367745-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
| 5-177367793-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
| 5-177368159-C-G | not specified | Uncertain significance (Feb 03, 2023) | ||
| 5-177368160-T-G | not specified | Uncertain significance (Feb 03, 2023) | ||
| 5-177368196-C-T | not specified | Uncertain significance (Mar 07, 2024) | ||
| 5-177368747-G-T | not specified | Uncertain significance (Feb 22, 2023) | ||
| 5-177368871-G-A | not specified | Uncertain significance (May 12, 2024) | ||
| 5-177368880-C-G | not specified | Uncertain significance (Sep 22, 2023) | ||
| 5-177370606-C-G | not specified | Uncertain significance (Jun 09, 2022) | ||
| 5-177370618-G-A | not specified | Uncertain significance (Jul 12, 2022) | ||
| 5-177370654-A-G | not specified | Uncertain significance (Oct 14, 2021) | ||
| 5-177370933-G-A | not specified | Uncertain significance (May 26, 2022) | ||
| 5-177370949-A-G | not specified | Uncertain significance (Mar 29, 2024) | ||
| 5-177370952-C-G | not specified | Uncertain significance (Apr 11, 2023) | ||
| 5-177370955-C-G | not specified | Uncertain significance (Jun 13, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RGS14 | protein_coding | protein_coding | ENST00000408923 | 15 | 14765 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00232 | 0.998 | 124781 | 0 | 17 | 124798 | 0.0000681 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.545 | 309 | 337 | 0.917 | 0.0000194 | 3584 |
| Missense in Polyphen | 103 | 131.26 | 0.78468 | 1463 | ||
| Synonymous | 2.06 | 117 | 149 | 0.785 | 0.00000880 | 1193 |
| Loss of Function | 3.32 | 10 | 29.4 | 0.340 | 0.00000154 | 320 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000304 | 0.000304 |
| Ashkenazi Jewish | 0.0000993 | 0.0000993 |
| East Asian | 0.0000556 | 0.0000556 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000453 | 0.0000441 |
| Middle Eastern | 0.0000556 | 0.0000556 |
| South Asian | 0.0000331 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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. Besides, modulates signal transduction via G protein alpha subunits by functioning as a GDP-dissociation inhibitor (GDI). Has GDI activity on G(i) alpha subunits GNAI1 and GNAI3, but not on GNAI2 and G(o) alpha subunit GNAO1. Has GAP activity on GNAI0, GNAI2 and GNAI3. May act as a scaffold integrating G protein and Ras/Raf MAPkinase signaling pathways. Inhibits platelet-derived growth factor (PDGF)-stimulated ERK1/ERK2 phosphorylation; a process depending on its interaction with HRAS and that is reversed by G(i) alpha subunit GNAI1. Acts as a positive modulator of microtubule polymerisation and spindle organization through a G(i)-alpha-dependent mechanism. Plays a role in cell division. Required for the nerve growth factor (NGF)- mediated neurite outgrowth. Involved in stress resistance. May be involved in visual memory processing capacity and hippocampal- based learning and memory. {ECO:0000269|PubMed:15917656, ECO:0000269|PubMed:17635935}.;
- Pathway
- Rap1 signaling pathway - Homo sapiens (human);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;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.103
Intolerance Scores
- loftool
- 0.602
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 74.49
Haploinsufficiency Scores
- pHI
- 0.663
- hipred
- Y
- hipred_score
- 0.722
- ghis
- 0.460
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.986
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs14
- Phenotype
- 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); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype;
Zebrafish Information Network
- Gene name
- rgs14a
- Affected structure
- primordial germ cell
- Phenotype tag
- abnormal
- Phenotype quality
- mislocalised
Gene ontology
- Biological process
- mitotic cell cycle;nucleocytoplasmic transport;response to oxidative stress;spindle organization;chromosome segregation;learning;long-term memory;regulation of G protein-coupled receptor signaling pathway;visual learning;zygote asymmetric cell division;negative regulation of synaptic plasticity;intracellular signal transduction;negative regulation of MAP kinase activity;positive regulation of GTPase activity;regulation of DNA-templated transcription in response to stress;negative regulation of G protein-coupled receptor signaling pathway;platelet-derived growth factor receptor signaling pathway;positive regulation of neurogenesis;cell division;long-term synaptic potentiation;negative regulation of ERK1 and ERK2 cascade
- Cellular component
- spindle pole;nucleus;cytoplasm;centrosome;spindle;microtubule;plasma membrane;postsynaptic density;nuclear body;PML body;cell junction;dendrite;dendritic spine;postsynaptic membrane;glutamatergic synapse
- Molecular function
- G-protein alpha-subunit binding;GDP-dissociation inhibitor activity;GTPase activator activity;protein binding;microtubule binding;protein kinase binding;receptor signaling complex scaffold activity;GTPase activating protein binding