PLK3
polo like kinase 3
Basic information
Region (hg38): 1:44800377-44805995
Previous symbols: [ "CNK" ]
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 PLK3 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 | 44 | 46 | ||||
| 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 | 44 | 2 | 6 |
Variants in PLK3
This is a list of pathogenic ClinVar variants found in the PLK3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-44800486-T-C | not specified | Uncertain significance (Nov 07, 2024) | ||
| 1-44800533-G-C | not specified | Uncertain significance (Dec 19, 2023) | ||
| 1-44800536-G-C | not specified | Uncertain significance (Nov 21, 2023) | ||
| 1-44800597-C-T | not specified | Uncertain significance (Jul 26, 2022) | ||
| 1-44800645-C-G | not specified | Uncertain significance (Jan 30, 2024) | ||
| 1-44800667-G-T | not specified | Uncertain significance (Jan 30, 2024) | ||
| 1-44800852-C-G | not specified | Uncertain significance (Jan 07, 2022) | ||
| 1-44800858-T-C | not specified | Uncertain significance (May 30, 2024) | ||
| 1-44800861-G-A | not specified | Uncertain significance (Mar 02, 2023) | ||
| 1-44800887-C-G | not specified | Uncertain significance (Oct 03, 2022) | ||
| 1-44800931-C-G | not specified | Uncertain significance (May 24, 2023) | ||
| 1-44801070-A-T | not specified | Uncertain significance (Mar 29, 2024) | ||
| 1-44801075-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
| 1-44801630-C-A | Benign (Mar 31, 2018) | |||
| 1-44801674-G-T | not specified | Uncertain significance (Jul 22, 2024) | ||
| 1-44801685-C-T | not specified | Uncertain significance (Apr 19, 2024) | ||
| 1-44801686-G-A | not specified | Uncertain significance (Dec 04, 2024) | ||
| 1-44801698-C-G | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-44801721-C-T | not specified | Uncertain significance (Oct 26, 2024) | ||
| 1-44801723-C-T | Benign (Jul 03, 2018) | |||
| 1-44801905-G-A | not specified | Uncertain significance (May 05, 2023) | ||
| 1-44801917-C-T | not specified | Uncertain significance (Dec 15, 2022) | ||
| 1-44802764-A-T | not specified | Uncertain significance (Jan 18, 2023) | ||
| 1-44802833-G-C | not specified | Uncertain significance (Apr 06, 2022) | ||
| 1-44802989-A-G | not specified | Uncertain significance (May 30, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PLK3 | protein_coding | protein_coding | ENST00000372201 | 15 | 5766 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000185 | 0.999 | 125706 | 0 | 42 | 125748 | 0.000167 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.24 | 318 | 386 | 0.823 | 0.0000241 | 4135 |
| Missense in Polyphen | 125 | 144.71 | 0.86382 | 1684 | ||
| Synonymous | -0.116 | 158 | 156 | 1.01 | 0.00000934 | 1378 |
| Loss of Function | 2.83 | 15 | 32.4 | 0.463 | 0.00000177 | 354 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000514 | 0.000512 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000272 | 0.000272 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000159 | 0.000158 |
| Middle Eastern | 0.000272 | 0.000272 |
| South Asian | 0.000163 | 0.000163 |
| Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine-protein kinase involved in cell cycle regulation, response to stress and Golgi disassembly. Polo-like kinases act by binding and phosphorylating proteins are that already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates ATF2, BCL2L1, CDC25A, CDC25C, CHEK2, HIF1A, JUN, p53/TP53, p73/TP73, PTEN, TOP2A and VRK1. Involved in cell cycle regulation: required for entry into S phase and cytokinesis. Phosphorylates BCL2L1, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Plays a key role in response to stress: rapidly activated upon stress stimulation, such as ionizing radiation, reactive oxygen species (ROS), hyperosmotic stress, UV irradiation and hypoxia. Involved in DNA damage response and G1/S transition checkpoint by phosphorylating CDC25A, p53/TP53 and p73/TP73. Phosphorylates p53/TP53 in response to reactive oxygen species (ROS), thereby promoting p53/TP53-mediated apoptosis. Phosphorylates CHEK2 in response to DNA damage, promoting the G2/M transition checkpoint. Phosphorylates the transcription factor p73/TP73 in response to DNA damage, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates HIF1A and JUN is response to hypoxia. Phosphorylates ATF2 following hyperosmotic stress in corneal epithelium. Also involved in Golgi disassembly during the cell cycle: part of a MEK1/MAP2K1-dependent pathway that induces Golgi fragmentation during mitosis by mediating phosphorylation of VRK1. May participate in endomitotic cell cycle, a form of mitosis in which both karyokinesis and cytokinesis are interrupted and is a hallmark of megakaryocyte differentiation, via its interaction with CIB1. {ECO:0000269|PubMed:10557092, ECO:0000269|PubMed:11156373, ECO:0000269|PubMed:11447225, ECO:0000269|PubMed:11551930, ECO:0000269|PubMed:11971976, ECO:0000269|PubMed:12242661, ECO:0000269|PubMed:14968113, ECO:0000269|PubMed:14980500, ECO:0000269|PubMed:15021912, ECO:0000269|PubMed:16478733, ECO:0000269|PubMed:16481012, ECO:0000269|PubMed:17264206, ECO:0000269|PubMed:17804415, ECO:0000269|PubMed:18062778, ECO:0000269|PubMed:18650425, ECO:0000269|PubMed:19103756, ECO:0000269|PubMed:19490146, ECO:0000269|PubMed:20889502, ECO:0000269|PubMed:20940307, ECO:0000269|PubMed:20951827, ECO:0000269|PubMed:21098032, ECO:0000269|PubMed:21264284, ECO:0000269|PubMed:21376736, ECO:0000269|PubMed:21840391, ECO:0000269|PubMed:9353331}.;
- Pathway
- FoxO signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Integrated Breast Cancer Pathway;TP53 Regulates Transcription of Cell Cycle Genes;Gene expression (Transcription);regulation of cell cycle progression by plk3;Generic Transcription Pathway;RNA Polymerase II Transcription;p73 transcription factor network;IL-7 signaling;TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain;TP53 Regulates Transcription of Cell Cycle Genes;JAK STAT pathway and regulation;EPO signaling;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Direct p53 effectors;VEGF;PLK3 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.185
Intolerance Scores
- loftool
- 0.834
- rvis_EVS
- -1.11
- rvis_percentile_EVS
- 6.78
Haploinsufficiency Scores
- pHI
- 0.297
- hipred
- Y
- hipred_score
- 0.706
- ghis
- 0.563
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.990
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Plk3
- Phenotype
- cellular phenotype; neoplasm; 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);
Gene ontology
- Biological process
- G1/S transition of mitotic cell cycle;G2/M transition of mitotic cell cycle;negative regulation of transcription by RNA polymerase II;response to reactive oxygen species;protein phosphorylation;apoptotic process;response to osmotic stress;cellular response to DNA damage stimulus;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;mitotic cell cycle checkpoint;endomitotic cell cycle;response to radiation;cytoplasmic microtubule organization;regulation of cytokinesis;negative regulation of apoptotic process;protein kinase B signaling;mitotic G1/S transition checkpoint;regulation of cell division;Golgi disassembly;positive regulation of intracellular protein transport;regulation of signal transduction by p53 class mediator;positive regulation of chaperone-mediated autophagy;positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia
- Cellular component
- nucleus;nucleoplasm;nucleolus;cytoplasm;Golgi stack;centrosome;dendrite;neuronal cell body
- Molecular function
- p53 binding;protein serine/threonine kinase activity;protein binding;ATP binding