GNAI2
G protein subunit alpha i2, the group of G protein subunits alpha, group i|MicroRNA protein coding host genes
Basic information
Region (hg38): 3:50226292-50259362
Previous symbols: [ "GNAI2B" ]
Links
Phenotypes
GenCC
Source:
- ventricular tachycardia, familial (No Known Disease Relationship), mode of inheritance: Unknown
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 GNAI2 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 | |||||
| missense | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 1 | 3 | 4 | 0 |
Variants in GNAI2
This is a list of pathogenic ClinVar variants found in the GNAI2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-50252124-C-T | Uncertain significance (Nov 30, 2023) | |||
| 3-50252406-C-T | Likely benign (Jun 26, 2018) | |||
| 3-50252447-C-A | not specified | Uncertain significance (May 12, 2024) | ||
| 3-50252537-C-T | Long QT syndrome | Conflicting classifications of pathogenicity (Jan 08, 2024) | ||
| 3-50253062-C-T | GNAI2-related disorder | Likely benign (Sep 18, 2019) | ||
| 3-50253082-C-G | Uncertain significance (Feb 14, 2023) | |||
| 3-50253106-G-A | not specified | Uncertain significance (Nov 10, 2022) | ||
| 3-50256262-C-G | Pituitary dependent hypercortisolism | Pathogenic (Feb 01, 1995) | ||
| 3-50256262-C-T | Adrenocortical tumor, somatic • Ovarian granulosa cell tumor • Thecoma, somatic | Conflicting classifications of pathogenicity (Aug 10, 1990) | ||
| 3-50256263-G-A | Adrenocortical tumor, somatic • Thecoma, somatic • Ovarian granulosa cell tumor | Pathogenic (Aug 26, 2014) | ||
| 3-50256271-A-C | 6 conditions • Neoplasm | Likely pathogenic (Mar 29, 2021) | ||
| 3-50256729-T-A | Ventricular tachycardia, somatic | Pathogenic (Jun 15, 1998) | ||
| 3-50257032-C-A | Uncertain significance (Oct 05, 2023) | |||
| 3-50257061-C-A | not specified | Uncertain significance (Jul 09, 2021) | ||
| 3-50257062-C-T | GNAI2-related disorder | Likely benign (Aug 20, 2019) | ||
| 3-50257501-G-A | Familial isolated pituitary adenoma | Uncertain significance (-) | ||
| 3-50257636-C-T | Likely benign (Dec 01, 2022) | |||
| 3-50257679-G-A | not specified | Uncertain significance (Aug 13, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GNAI2 | protein_coding | protein_coding | ENST00000313601 | 8 | 33064 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.892 | 0.108 | 124933 | 0 | 6 | 124939 | 0.0000240 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.15 | 91 | 224 | 0.407 | 0.0000140 | 2359 |
| Missense in Polyphen | 24 | 95.332 | 0.25175 | 1091 | ||
| Synonymous | 1.58 | 78 | 97.8 | 0.797 | 0.00000689 | 645 |
| Loss of Function | 3.25 | 2 | 16.0 | 0.125 | 6.77e-7 | 201 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000806 | 0.0000545 |
| Finnish | 0.000190 | 0.000186 |
| European (Non-Finnish) | 0.00000916 | 0.00000888 |
| Middle Eastern | 0.0000806 | 0.0000545 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(i) proteins are involved in hormonal regulation of adenylate cyclase: they inhibit the cyclase in response to beta-adrenergic stimuli. May play a role in cell division. {ECO:0000269|PubMed:17635935}.;
- Pathway
- Platelet activation - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Pertussis - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);GABAergic synapse - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Glutamatergic synapse - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Long-term depression - Homo sapiens (human);Gap junction - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Axon guidance - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Renin secretion - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics;Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in squamous cell - TarBase;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Corticotropin-releasing hormone signaling pathway;Signal Transduction of S1P Receptor;Human Complement System;G Protein Signaling Pathways;Chemokine signaling pathway;Calcium Regulation in the Cardiac Cell;Serotonin HTR1 Group and FOS Pathway;Signaling by GPCR;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Signal Transduction;Metabolism of proteins;GPCR signaling-G alpha q;ADP signalling through P2Y purinoceptor 12;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Chaperonin-mediated protein folding;Metabolism;Ghrelin;G alpha (s) signalling events;Adrenaline,noradrenaline inhibits insulin secretion;Regulation of insulin secretion;Signal amplification;Neuronal System;CRH;GPCR signaling-G alpha s Epac and ERK;Platelet activation, signaling and aggregation;GPCR signaling-G alpha s PKA and ERK;S1P5 pathway;Adenylate cyclase inhibitory pathway;Inhibition of adenylate cyclase pathway;Activation of GABAB receptors;CXCR4-mediated signaling events;Hemostasis;Thromboxane A2 receptor signaling;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 signaling-G alpha i;TSH;Integration of energy metabolism;GPCR downstream signalling;PAR1-mediated thrombin signaling events;LPA receptor mediated events;IL8- and CXCR1-mediated signaling events;S1P1 pathway;S1P3 pathway;CXCR3-mediated signaling events;S1P4 pathway;Plasma membrane estrogen receptor signaling;Nongenotropic Androgen signaling;Hedgehog signaling events mediated by Gli proteins;Sphingosine 1-phosphate (S1P) pathway;Endothelins;IL8- and CXCR2-mediated signaling events;S1P2 pathway
(Consensus)
Recessive Scores
- pRec
- 0.260
Intolerance Scores
- loftool
- 0.0199
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.37
Haploinsufficiency Scores
- pHI
- 0.799
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.557
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.935
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gnai2
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; 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); 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); neoplasm; digestive/alimentary phenotype; immune system phenotype; skeleton phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- adenosine receptor signaling pathway;protein folding;cell cycle;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;negative regulation of adenylate cyclase activity;G protein-coupled acetylcholine receptor signaling pathway;gamma-aminobutyric acid signaling pathway;response to nutrient;cell population proliferation;positive regulation of cell population proliferation;positive regulation of cell migration;positive regulation of superoxide anion generation;positive regulation of NAD(P)H oxidase activity;positive regulation of urine volume;positive regulation of renal sodium excretion;negative regulation of calcium ion-dependent exocytosis;positive regulation of insulin receptor signaling pathway;negative regulation of synaptic transmission;cell division;regulation of calcium ion transport;positive regulation of ERK1 and ERK2 cascade;negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process;negative regulation of protein tyrosine phosphatase activity;positive regulation of vascular smooth muscle cell proliferation;positive regulation of neural precursor cell proliferation;negative regulation of apoptotic signaling pathway
- Cellular component
- nucleoplasm;cytoplasm;centrosome;cytosol;heterotrimeric G-protein complex;plasma membrane;membrane;dendrite;midbody;cell body;membrane raft;extracellular exosome;extracellular vesicle
- Molecular function
- G protein-coupled receptor binding;GTPase activity;protein binding;GTP binding;G-protein beta/gamma-subunit complex binding;metal ion binding