GNAT3
G protein subunit alpha transducin 3, the group of G protein subunits alpha, group i
Basic information
Region (hg38): 7:80458635-80512064
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 GNAT3 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 | 23 | 23 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 23 | 0 | 0 |
Variants in GNAT3
This is a list of pathogenic ClinVar variants found in the GNAT3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-80458676-A-C | not specified | Uncertain significance (Jul 14, 2021) | ||
| 7-80458698-C-G | not specified | Uncertain significance (Dec 18, 2023) | ||
| 7-80458742-C-T | not specified | Uncertain significance (Jan 07, 2022) | ||
| 7-80458807-A-C | not specified | Uncertain significance (Jun 28, 2023) | ||
| 7-80458810-T-C | not specified | Uncertain significance (Jan 09, 2024) | ||
| 7-80458838-C-T | not specified | Uncertain significance (Oct 14, 2021) | ||
| 7-80462205-T-G | not specified | Uncertain significance (Oct 27, 2023) | ||
| 7-80462248-G-A | not specified | Uncertain significance (Jan 04, 2024) | ||
| 7-80462257-A-G | not specified | Uncertain significance (Apr 18, 2023) | ||
| 7-80462510-C-T | not specified | Uncertain significance (Nov 18, 2022) | ||
| 7-80462526-C-A | not specified | Uncertain significance (Oct 25, 2022) | ||
| 7-80474259-C-A | not specified | Uncertain significance (Dec 03, 2021) | ||
| 7-80474332-T-C | not specified | Uncertain significance (Jul 25, 2023) | ||
| 7-80474333-T-C | not specified | Uncertain significance (Feb 12, 2024) | ||
| 7-80478905-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
| 7-80488539-C-A | not specified | Uncertain significance (Feb 10, 2023) | ||
| 7-80488590-G-A | not specified | Uncertain significance (Apr 15, 2022) | ||
| 7-80488590-G-C | not specified | Uncertain significance (Apr 08, 2024) | ||
| 7-80488617-T-G | not specified | Uncertain significance (Mar 21, 2022) | ||
| 7-80488647-T-G | not specified | Uncertain significance (Feb 27, 2024) | ||
| 7-80494626-C-G | not specified | Uncertain significance (Feb 28, 2023) | ||
| 7-80511814-A-T | not specified | Uncertain significance (Dec 15, 2023) | ||
| 7-80511883-C-A | not specified | Uncertain significance (Jun 02, 2023) | ||
| 7-80511900-G-C | not specified | Uncertain significance (Oct 22, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GNAT3 | protein_coding | protein_coding | ENST00000398291 | 8 | 53350 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000163 | 0.880 | 124838 | 1 | 94 | 124933 | 0.000380 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.257 | 157 | 166 | 0.944 | 0.00000776 | 2328 |
| Missense in Polyphen | 62 | 70.714 | 0.87677 | 1034 | ||
| Synonymous | 0.0858 | 58 | 58.8 | 0.986 | 0.00000285 | 624 |
| Loss of Function | 1.49 | 10 | 16.5 | 0.605 | 8.70e-7 | 227 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000357 | 0.000349 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000285 | 0.000276 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000674 | 0.000627 |
| Middle Eastern | 0.000285 | 0.000276 |
| South Asian | 0.000302 | 0.000261 |
| Other | 0.000701 | 0.000659 |
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide-binding protein (G protein) alpha subunit playing a prominent role in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Transduction by this alpha subunit involves coupling of specific cell-surface receptors with a cGMP-phosphodiesterase; Activation of phosphodiesterase lowers intracellular levels of cAMP and cGMP which may open a cyclic nucleotide-suppressible cation channel leading to influx of calcium, ultimately leading to release of neurotransmitter. Indeed, denatonium and strychnine induce transient reduction in cAMP and cGMP in taste tissue, whereas this decrease is inhibited by GNAT3 antibody. Gustducin heterotrimer transduces response to bitter and sweet compounds via regulation of phosphodiesterase for alpha subunit, as well as via activation of phospholipase C for beta and gamma subunits, with ultimate increase inositol trisphosphate and increase of intracellular Calcium. GNAT3 can functionally couple to taste receptors to transmit intracellular signal: receptor heterodimer TAS1R2/TAS1R3 senses sweetness and TAS1R1/TAS1R3 transduces umami taste, whereas the T2R family GPCRs act as bitter sensors. Functions also as lumenal sugar sensors in the gut to control the expression of the Na+-glucose transporter SGLT1 in response to dietaty sugar, as well as the secretion of Glucagon-like peptide- 1, GLP-1 and glucose-dependent insulinotropic polypeptide, GIP. Thus, may modulate the gut capacity to absorb sugars, with implications in malabsorption syndromes and diet-related disorders including diabetes and obesity. {ECO:0000269|PubMed:11917125, ECO:0000269|PubMed:17724330}.;
- Pathway
- Carbohydrate digestion and absorption - Homo sapiens (human);Taste transduction - Homo sapiens (human);Signaling by GPCR;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Signal Transduction;Metabolism of proteins;ADP signalling through P2Y purinoceptor 12;Chaperonin-mediated protein folding;G alpha (s) signalling events;Signal amplification;Neuronal System;Platelet activation, signaling and aggregation;Adenylate cyclase inhibitory pathway;Inhibition of adenylate cyclase pathway;Activation of GABAB receptors;Hemostasis;Protein folding;G-protein activation;GABA B receptor activation;PLC beta mediated events;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;G-protein mediated events;Opioid Signalling;G alpha (i) signalling events;G alpha (z) signalling events;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- 0.431
- rvis_EVS
- 0.48
- rvis_percentile_EVS
- 79.25
Haploinsufficiency Scores
- pHI
- 0.296
- hipred
- N
- hipred_score
- 0.408
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.677
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gnat3
- Phenotype
- taste/olfaction 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);
Gene ontology
- Biological process
- detection of chemical stimulus involved in sensory perception of bitter taste;protein folding;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;response to nicotine;sensory perception of sweet taste;sensory perception of umami taste
- Cellular component
- acrosomal vesicle;photoreceptor outer segment;photoreceptor inner segment;heterotrimeric G-protein complex;plasma membrane;axoneme;apical plasma membrane;protein-containing complex
- Molecular function
- G protein-coupled receptor binding;GTPase activity;GTP binding;G-protein beta/gamma-subunit complex binding;metal ion binding