PRKACG
protein kinase cAMP-activated catalytic subunit gamma, the group of Protein kinase A subunits|AGC family kinases
Basic information
Region (hg38): 9:69012504-69014113
Links
Phenotypes
GenCC
Source:
- platelet-type bleeding disorder 19 (Supportive), mode of inheritance: AR
- platelet-type bleeding disorder 19 (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Bleeding disorder, platelet-type, 19 | AR | Hematologic | Individuals have been described as manifesting with spontaneous bleeding episodes in childhood, and awareness may allow preventive measures and early management of bleeding diatheses | Hematologic | 25061177 |
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 PRKACG 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 | 6 | |||||
| missense | 20 | 21 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 3 | |||||
| Total | 0 | 0 | 20 | 4 | 6 |
Variants in PRKACG
This is a list of pathogenic ClinVar variants found in the PRKACG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-69012838-G-GGC | Benign (Nov 12, 2018) | |||
| 9-69012840-G-C | Benign (Jun 21, 2021) | |||
| 9-69013163-C-T | Benign (Aug 16, 2017) | |||
| 9-69013206-T-C | not specified | Uncertain significance (Dec 06, 2022) | ||
| 9-69013232-G-C | not specified | Uncertain significance (Feb 23, 2023) | ||
| 9-69013237-T-G | PRKACG-related disorder | Likely benign (Feb 27, 2019) | ||
| 9-69013281-C-A | not specified | Uncertain significance (Dec 06, 2022) | ||
| 9-69013285-G-A | Likely benign (Mar 01, 2023) | |||
| 9-69013291-G-C | Benign (Nov 12, 2018) | |||
| 9-69013297-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
| 9-69013370-G-A | not specified | Benign/Likely benign (Jun 01, 2024) | ||
| 9-69013380-G-C | not specified | Uncertain significance (Nov 03, 2022) | ||
| 9-69013387-A-T | not specified | Uncertain significance (Jun 17, 2022) | ||
| 9-69013393-C-G | not specified | Uncertain significance (May 16, 2023) | ||
| 9-69013473-G-A | not specified | Uncertain significance (Feb 27, 2023) | ||
| 9-69013596-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
| 9-69013632-G-T | not specified | Uncertain significance (May 28, 2024) | ||
| 9-69013644-T-A | not specified | Uncertain significance (Feb 13, 2024) | ||
| 9-69013644-T-C | not specified | Uncertain significance (Jan 10, 2022) | ||
| 9-69013679-C-G | not specified | Uncertain significance (Dec 09, 2023) | ||
| 9-69013687-C-G | not specified | Uncertain significance (May 14, 2024) | ||
| 9-69013725-T-C | not specified | Uncertain significance (Sep 27, 2022) | ||
| 9-69013789-G-A | not specified | Uncertain significance (Aug 21, 2023) | ||
| 9-69013796-G-A | PRKACG-related disorder | Benign (Jul 22, 2019) | ||
| 9-69013819-C-T | not specified | Uncertain significance (Mar 06, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PRKACG | protein_coding | protein_coding | ENST00000377276 | 1 | 1571 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.182 | 232 | 224 | 1.03 | 0.0000165 | 2320 |
| Missense in Polyphen | 103 | 91.816 | 1.1218 | 976 | ||
| Synonymous | 0.805 | 94 | 104 | 0.900 | 0.00000900 | 688 |
| Loss of Function |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | ||
| East Asian | ||
| Finnish | ||
| European (Non-Finnish) | ||
| Middle Eastern | ||
| South Asian | ||
| Other |
dbNSFP
Source:
- Function
- FUNCTION: Phosphorylates a large number of substrates in the cytoplasm and the nucleus.;
- Pathway
- Prion diseases - Homo sapiens (human);Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Platelet activation - Homo sapiens (human);Cortisol synthesis and secretion - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Aldosterone synthesis and secretion - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Long-term potentiation - 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);Oocyte meiosis - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Thyroid hormone synthesis - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Tight junction - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Bile secretion - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Vasopressin-regulated water reabsorption - Homo sapiens (human);Gap junction - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Glucagon signaling pathway - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human);Renin secretion - Homo sapiens (human);Vibrio cholerae infection - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Salivary secretion - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Taste transduction - Homo sapiens (human);Olfactory transduction - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Hedgehog signaling pathway - Homo sapiens (human);Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;AMP-activated Protein Kinase (AMPK) Signaling;miRs in Muscle Cell Differentiation;Dopamine metabolism;Common Pathways Underlying Drug Addiction;G Protein Signaling Pathways;MAPK Signaling Pathway;Chemokine signaling pathway;Lipid Metabolism Pathway;Liver steatosis AOP;Ras Signaling;Hedgehog Signaling Pathway;Developmental Biology;Signaling by GPCR;Signal Transduction;mechanism of gene regulation by peroxisome proliferators via ppara;phospholipase c-epsilon pathway;GLI3 is processed to GLI3R by the proteasome;gata3 participate in activating the th2 cytokine genes expression;repression of pain sensation by the transcriptional regulator dream;transcription factor creb and its extracellular signals;regulation of ck1/cdk5 by type 1 glutamate receptors;HDL assembly;nitric oxide signaling pathway;stathmin and breast cancer resistance to antimicrotubule agents;Plasma lipoprotein assembly;cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway;regulation of bad phosphorylation;transcription regulation by methyltransferase of carm1;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;mcalpain and friends in cell motility;VEGFA-VEGFR2 Pathway;rho-selective guanine exchange factor akap13 mediates stress fiber formation;chrebp regulation by carbohydrates and camp;signaling pathway from g-protein families;how progesterone initiates the oocyte maturation;protein kinase a at the centrosome;attenuation of gpcr signaling;activation of camp-dependent protein kinase pka;Metabolism of carbohydrates;Metabolism of lipids;Glucagon signaling in metabolic regulation;PKA-mediated phosphorylation of key metabolic factors;GPCR Dopamine D1like receptor;MAPK6/MAPK4 signaling;Factors involved in megakaryocyte development and platelet production;GPCR Adenosine A2A receptor;GPCR signaling-cholera toxin;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);Hedgehog;Innate Immune System;Immune System;Metabolism;Rap1 signalling;Adaptive Immune System;PKA activation;PKA-mediated phosphorylation of CREB;Calmodulin induced events;CaM pathway;Transport of small molecules;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Regulation of insulin secretion;Neuronal System;actions of nitric oxide in the heart;akap95 role in mitosis and chromosome dynamics;Degradation of GLI2 by the proteasome;Degradation of GLI1 by the proteasome;Hedgehog ,off, state;DARPP-32 events;Glycolysis;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;Signaling by Hedgehog;Triglyceride catabolism;Triglyceride metabolism;ROBO receptors bind AKAP5;Glucocorticoid receptor regulatory network;Hemostasis;DAG and IP3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;EPO signaling;Plasma lipoprotein assembly, remodeling, and clearance;Signaling by ROBO receptors;Signaling by VEGF;Ca-dependent events;PLC beta mediated events;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;G-protein mediated events;Opioid Signalling;G alpha (i) signalling events;RET signaling;Axon guidance;CREB phosphorylation through the activation of Adenylate Cyclase;Glucose metabolism;PKA activation in glucagon signalling;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport;Signaling by Receptor Tyrosine Kinases;Integration of energy metabolism;VEGF;GPCR downstream signalling;Intracellular signaling by second messengers;GMCSF-mediated signaling events;IL3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.277
Intolerance Scores
- loftool
- 0.648
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.74
Haploinsufficiency Scores
- pHI
- 0.654
- hipred
- N
- hipred_score
- 0.317
- ghis
- 0.436
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.962
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- stimulatory C-type lectin receptor signaling pathway;renal water homeostasis;protein phosphorylation;spermatogenesis;blood coagulation;male gonad development;activation of protein kinase A activity;high-density lipoprotein particle assembly;cellular response to glucagon stimulus
- Cellular component
- nucleoplasm;cytosol;intercellular bridge;ciliary base
- Molecular function
- protein serine/threonine kinase activity;cAMP-dependent protein kinase activity;ATP binding