PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta, the group of Protein kinase A subunits
Basic information
Region (hg38): 7:107044705-107161811
Previous symbols: [ "PRKAR2" ]
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 PRKAR2B 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 | 3 | |||||
| missense | 12 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 12 | 0 | 3 |
Variants in PRKAR2B
This is a list of pathogenic ClinVar variants found in the PRKAR2B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-107044915-T-A | not specified | Uncertain significance (Apr 27, 2023) | ||
| 7-107044917-G-A | not specified | Uncertain significance (Nov 21, 2022) | ||
| 7-107044982-C-A | Benign (Aug 02, 2017) | |||
| 7-107045028-C-G | not specified | Uncertain significance (Apr 07, 2023) | ||
| 7-107045103-G-A | not specified | Uncertain significance (Jun 22, 2023) | ||
| 7-107045145-C-T | not specified | Uncertain significance (May 16, 2024) | ||
| 7-107070321-G-A | Benign (Dec 31, 2019) | |||
| 7-107128242-A-T | not specified | Uncertain significance (Dec 01, 2023) | ||
| 7-107128264-A-G | not specified | Uncertain significance (Dec 11, 2023) | ||
| 7-107146373-G-A | not specified | Uncertain significance (Nov 17, 2022) | ||
| 7-107146403-A-G | not specified | Uncertain significance (Mar 08, 2024) | ||
| 7-107151022-A-T | not specified | Uncertain significance (Sep 27, 2022) | ||
| 7-107153213-A-T | not specified | Uncertain significance (Dec 28, 2023) | ||
| 7-107153221-A-G | Benign (Aug 02, 2017) | |||
| 7-107157235-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
| 7-107159513-C-T | Benign (Feb 19, 2018) | |||
| 7-107159556-A-G | not specified | Uncertain significance (Oct 25, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PRKAR2B | protein_coding | protein_coding | ENST00000265717 | 11 | 117163 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.997 | 0.00287 | 125742 | 0 | 4 | 125746 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.47 | 121 | 225 | 0.537 | 0.0000114 | 2735 |
| Missense in Polyphen | 20 | 80.107 | 0.24967 | 967 | ||
| Synonymous | -0.194 | 87 | 84.7 | 1.03 | 0.00000444 | 786 |
| Loss of Function | 4.11 | 1 | 21.6 | 0.0463 | 0.00000113 | 263 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000908 | 0.0000908 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000176 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. Type II regulatory chains mediate membrane association by binding to anchoring proteins, including the MAP2 kinase.;
- Pathway
- Insulin signaling pathway - Homo sapiens (human);miRs in Muscle Cell Differentiation;Myometrial Relaxation and Contraction Pathways;G Protein Signaling Pathways;Lipid Metabolism Pathway;Liver steatosis AOP;Calcium Regulation in the Cardiac Cell;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signaling by GPCR;Signal Transduction;mechanism of gene regulation by peroxisome proliferators via ppara;phospholipase c-epsilon pathway;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;nitric oxide signaling pathway;stathmin and breast cancer resistance to antimicrotubule agents;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;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;Glucagon signaling in metabolic regulation;GPCR Dopamine D1like receptor;Factors involved in megakaryocyte development and platelet production;GPCR Adenosine A2A receptor;GPCR signaling-cholera toxin;Hedgehog;Metabolism;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;actions of nitric oxide in the heart;akap95 role in mitosis and chromosome dynamics;Hedgehog ,off, state;DARPP-32 events;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;Signaling by Hedgehog;Regulation of PLK1 Activity at G2/M Transition;Recruitment of mitotic centrosome proteins and complexes;Loss of Nlp from mitotic centrosomes;Loss of proteins required for interphase microtubule organization from the centrosome;Centrosome maturation;Hemostasis;DAG and IP3 signaling;AURKA Activation by TPX2;G2/M Transition;Mitotic G2-G2/M phases;JAK STAT pathway and regulation;EPO signaling;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;Ca-dependent events;PLC beta mediated events;G-protein mediated events;Opioid Signalling;G alpha (i) signalling events;M Phase;PKA activation in glucagon signalling;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport;Cell Cycle;Integration of energy metabolism;VEGF;Cell Cycle, Mitotic;GPCR downstream signalling;Anchoring of the basal body to the plasma membrane;Intracellular signaling by second messengers;Cilium Assembly;Organelle biogenesis and maintenance
(Consensus)
Recessive Scores
- pRec
- 0.547
Intolerance Scores
- loftool
- rvis_EVS
- -0.19
- rvis_percentile_EVS
- 39.68
Haploinsufficiency Scores
- pHI
- 0.662
- hipred
- Y
- hipred_score
- 0.786
- ghis
- 0.562
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.819
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Prkar2b
- Phenotype
- pigmentation phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype;
Gene ontology
- Biological process
- G2/M transition of mitotic cell cycle;renal water homeostasis;fatty acid metabolic process;blood coagulation;learning;regulation of G2/M transition of mitotic cell cycle;cGMP-mediated signaling;activation of protein kinase A activity;intracellular signal transduction;modulation of chemical synaptic transmission;cellular response to glucagon stimulus;response to clozapine;ciliary basal body-plasma membrane docking;negative regulation of cAMP-dependent protein kinase activity
- Cellular component
- cytoplasm;centrosome;cytosol;plasma membrane;cAMP-dependent protein kinase complex;neuronal cell body;dendritic spine;dendritic shaft;membrane raft;perinuclear region of cytoplasm;extracellular exosome;ciliary base;glutamatergic synapse
- Molecular function
- cAMP-dependent protein kinase inhibitor activity;protein binding;cAMP-dependent protein kinase regulator activity;protein domain specific binding;cAMP binding;ubiquitin protein ligase binding;protein kinase A catalytic subunit binding;3',5'-cyclic-GMP phosphodiesterase activity