MAPK9
mitogen-activated protein kinase 9, the group of Mitogen-activated protein kinases
Basic information
Region (hg38): 5:180233142-180292099
Previous symbols: [ "PRKM9" ]
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 MAPK9 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 9 | 1 | 0 |
Variants in MAPK9
This is a list of pathogenic ClinVar variants found in the MAPK9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-180236388-C-G | not specified | Uncertain significance (Dec 27, 2023) | ||
| 5-180236409-G-A | not specified | Uncertain significance (Dec 27, 2022) | ||
| 5-180236448-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
| 5-180236460-G-C | not specified | Uncertain significance (Oct 03, 2023) | ||
| 5-180236478-T-C | not specified | Uncertain significance (Mar 16, 2022) | ||
| 5-180238338-G-T | not specified | Likely benign (May 15, 2023) | ||
| 5-180242583-G-C | not specified | Uncertain significance (Nov 01, 2022) | ||
| 5-180247909-C-T | not specified | Uncertain significance (Apr 25, 2022) | ||
| 5-180249033-C-T | not specified | Uncertain significance (Jul 08, 2022) | ||
| 5-180261707-G-A | not specified | Uncertain significance (Sep 14, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAPK9 | protein_coding | protein_coding | ENST00000452135 | 11 | 58957 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0697 | 0.930 | 125732 | 0 | 16 | 125748 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.28 | 138 | 237 | 0.582 | 0.0000129 | 2793 |
| Missense in Polyphen | 40 | 102.46 | 0.39038 | 1186 | ||
| Synonymous | 0.877 | 74 | 84.2 | 0.878 | 0.00000485 | 782 |
| Loss of Function | 3.39 | 7 | 25.5 | 0.275 | 0.00000136 | 301 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000181 | 0.000181 |
| Ashkenazi Jewish | 0.000201 | 0.000198 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000802 | 0.0000791 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. In response to oxidative or ribotoxic stresses, inhibits rRNA synthesis by phosphorylating and inactivating the RNA polymerase 1-specific transcription initiation factor RRN3. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including TP53 and YAP1. In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells. Upon T-cell receptor (TCR) stimulation, is activated by CARMA1, BCL10, MAP2K7 and MAP3K7/TAK1 to regulate JUN protein levels. Plays an important role in the osmotic stress-induced epithelial tight-junctions disruption. When activated, promotes beta-catenin/CTNNB1 degradation and inhibits the canonical Wnt signaling pathway. Participates also in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-ARNTL/BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates POU5F1, which results in the inhibition of POU5F1's transcriptional activity and enhances its proteosomal degradation (By similarity). {ECO:0000250|UniProtKB:Q9WTU6, ECO:0000269|PubMed:22441692}.;
- Pathway
- Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Adipocytokine signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Type II diabetes mellitus - Homo sapiens (human);Insulin resistance - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Tight junction - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Influenza A - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Protein processing in endoplasmic reticulum - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Necroptosis - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Shigellosis - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Apoptosis - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);VEGF Signaling Pathway;EGF-Core;Regulation of toll-like receptor signaling pathway;IL-1 signaling pathway;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Prolactin Signaling Pathway;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;B Cell Receptor Signaling Pathway;TNF alpha Signaling Pathway;AGE-RAGE pathway;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;ATM Signaling Pathway;JAK-STAT;Structural Pathway of Interleukin 1 (IL-1);Focal Adhesion;Rac1-Pak1-p38-MMP-2 pathway;Wnt Signaling Pathway;TGF-beta Signaling Pathway;MAPK Signaling Pathway;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;RIG-I-like Receptor Signaling;Canonical and Non-Canonical TGF-B signaling;VEGFA-VEGFR2 Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;BMP Signaling Pathway in Eyelid Development;Protein alkylation leading to liver fibrosis;Wnt Signaling Pathway and Pluripotency;Splicing factor NOVA regulated synaptic proteins;Wnt Signaling in Kidney Disease;Chromosomal and microsatellite instability in colorectal cancer;Ras Signaling;Wnt Signaling Pathway;EGF-EGFR Signaling Pathway;Insulin Signaling;TGF-beta Receptor Signaling;T-Cell antigen Receptor (TCR) Signaling Pathway;DNA Damage Response (only ATM dependent);Estrogen signaling pathway;Toll-like Receptor Signaling Pathway;RAGE;TWEAK;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Signaling by Interleukins;mapkinase signaling pathway;Prolactin;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;Oxidative Stress Induced Senescence;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;Cellular Senescence;Fas;IL12 signaling mediated by STAT4;Cellular responses to stress;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;TCR;Innate Immune System;Immune System;ATF-2 transcription factor network;Fibroblast growth factor-1;IL-1 p38;CRH;IL-1 JNK;TGF-beta super family signaling pathway canonical;IL1;Cellular responses to external stimuli;IL-7 signaling;JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1;BDNF;EGFR1;Activation of the AP-1 family of transcription factors;MAPK targets/ Nuclear events mediated by MAP kinases;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;Glucocorticoid receptor regulatory network;ErbB1 downstream signaling;MyD88 dependent cascade initiated on endosome;JAK STAT pathway and regulation;Noncanonical Wnt signaling pathway;EPO signaling;IL2-mediated signaling events;Gastrin;Rapid glucocorticoid signaling;TGF-beta signaling TAK1;TLR ECSIT MEKK1 JNK;TNFalpha;TLR JNK;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;TNF;VEGF;ErbB2/ErbB3 signaling events;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Glypican 3 network;RAC1 signaling pathway;CD40/CD40L signaling;CDC42 signaling events;Downstream signaling in naïve CD8+ T cells;Signaling events mediated by focal adhesion kinase;p75(NTR)-mediated signaling;FAS (CD95) signaling pathway;FoxO family signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;PDGFR-beta signaling pathway;Regulation of retinoblastoma protein;Nephrin/Neph1 signaling in the kidney podocyte;p53 pathway;CD4 T cell receptor signaling-JNK cascade;TSLP;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.800
Intolerance Scores
- loftool
- 0.280
- rvis_EVS
- -0.63
- rvis_percentile_EVS
- 17.03
Haploinsufficiency Scores
- pHI
- 0.965
- hipred
- Y
- hipred_score
- 0.756
- ghis
- 0.644
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.995
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapk9
- Phenotype
- respiratory system phenotype; liver/biliary system phenotype; embryo phenotype; neoplasm; 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); reproductive system 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); vision/eye phenotype; digestive/alimentary 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); renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; 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); craniofacial phenotype; muscle phenotype;
Zebrafish Information Network
- Gene name
- mapk9
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- protein phosphorylation;JNK cascade;JUN phosphorylation;response to mechanical stimulus;regulation of gene expression;positive regulation of gene expression;positive regulation of macrophage derived foam cell differentiation;peptidyl-serine phosphorylation;positive regulation of protein ubiquitination;cellular response to reactive oxygen species;intracellular signal transduction;Fc-epsilon receptor signaling pathway;regulation of circadian rhythm;positive regulation of apoptotic process;rhythmic process;neuron development;protein localization to tricellular tight junction;cellular response to cadmium ion;cellular response to organic substance;positive regulation of podosome assembly;positive regulation of transcription factor catabolic process;positive regulation of apoptotic signaling pathway
- Cellular component
- nucleus;nucleoplasm;cytoplasm;mitochondrion;cytosol;neuron projection
- Molecular function
- JUN kinase activity;MAP kinase activity;protein serine/threonine/tyrosine kinase activity;protein binding;ATP binding;transcription factor binding