MAPK3
Basic information
Region (hg38): 16:30114104-30123506
Previous symbols: [ "PRKM3" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (10 variants)
- Inborn genetic diseases (5 variants)
- not specified (1 variants)
- MAPK3-related condition (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPK3 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 | 5 | |||||
missense | 9 | |||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 1 | ||||
non coding ? | 1 | |||||
Total | 0 | 1 | 7 | 8 | 0 |
Variants in MAPK3
This is a list of pathogenic ClinVar variants found in the MAPK3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-30116675-G-T | not specified | Uncertain significance (Dec 27, 2023) | ||
16-30116700-G-A | not specified | Uncertain significance (Jun 13, 2023) | ||
16-30116846-C-T | MAPK3-related disorder | Benign (Oct 28, 2019) | ||
16-30116901-G-A | not specified | Uncertain significance (Dec 26, 2023) | ||
16-30116903-C-T | MAPK3-related disorder | Benign/Likely benign (Apr 01, 2023) | ||
16-30116920-C-G | not specified | Uncertain significance (Oct 06, 2022) | ||
16-30116944-C-T | MAPK3-related disorder | Likely benign (Dec 31, 2019) | ||
16-30116953-T-C | not specified | Uncertain significance (Sep 21, 2023) | ||
16-30117001-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
16-30117782-G-A | Likely benign (May 16, 2018) | |||
16-30118056-C-A | Likely benign (Apr 01, 2023) | |||
16-30118415-G-A | MAPK3-related disorder | Likely benign (Feb 22, 2019) | ||
16-30118449-T-C | Likely pathogenic (Aug 25, 2022) | |||
16-30118475-G-A | Likely benign (Mar 29, 2018) | |||
16-30121850-C-T | Likely benign (Jul 06, 2018) | |||
16-30121948-C-G | not specified | Uncertain significance (Apr 19, 2023) | ||
16-30122014-G-A | Likely benign (Feb 26, 2018) | |||
16-30123046-A-G | not specified | Uncertain significance (May 04, 2022) | ||
16-30123084-G-T | MAPK3-related disorder | Uncertain significance (Mar 29, 2023) | ||
16-30123098-C-A | not specified | Uncertain significance (Dec 28, 2022) | ||
16-30123141-C-T | MAPK3-related disorder | Likely benign (Mar 04, 2019) | ||
16-30123167-G-A | Likely benign (Dec 31, 2019) | |||
16-30123177-G-C | Likely benign (Dec 31, 2019) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MAPK3 | protein_coding | protein_coding | ENST00000263025 | 8 | 9402 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0369 | 0.962 | 125727 | 0 | 18 | 125745 | 0.0000716 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.74 | 164 | 240 | 0.684 | 0.0000152 | 2453 |
Missense in Polyphen | 55 | 94.456 | 0.58228 | 936 | ||
Synonymous | 1.00 | 87 | 99.8 | 0.872 | 0.00000618 | 763 |
Loss of Function | 2.80 | 6 | 19.3 | 0.311 | 0.00000108 | 206 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000100 | 0.000100 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000231 | 0.000231 |
European (Non-Finnish) | 0.0000713 | 0.0000703 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. {ECO:0000269|PubMed:10393181, ECO:0000269|PubMed:10617468, ECO:0000269|PubMed:12110590, ECO:0000269|PubMed:12356731, ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:15788397, ECO:0000269|PubMed:15952796, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:8325880, ECO:0000269|PubMed:9155018, ECO:0000269|PubMed:9480836}.;
- Pathway
- Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Prion diseases - Homo sapiens (human);PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Platelet activation - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Fc gamma R-mediated phagocytosis - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);TGF-beta signaling pathway - Homo sapiens (human);Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Adherens junction - Homo sapiens (human);Melanoma - Homo sapiens (human);Glutamatergic synapse - Homo sapiens (human);Type II diabetes mellitus - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Long-term depression - Homo sapiens (human);Influenza A - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Axon guidance - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Chagas disease (American trypanosomiasis) - 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);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Shigellosis - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;Diuretics Pathway, Pharmacodynamics;ACE Inhibitor Pathway, Pharmacodynamics;VEGF Signaling Pathway;EGF-Core;JAK-STAT-Core;TGF-Core;IL-5 Signaling Pathway;Osteopontin Signaling;Regulation of toll-like receptor signaling pathway;MicroRNAs in cardiomyocyte hypertrophy;Apoptosis Modulation and Signaling;IL-1 signaling pathway;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;Leptin signaling pathway;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Follicle Stimulating Hormone (FSH) signaling pathway;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Prolactin Signaling Pathway;IL-7 Signaling Pathway;Alzheimers Disease;IL17 signaling pathway;IL-9 Signaling Pathway;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Signaling Pathways in Glioblastoma;Androgen Receptor Network in Prostate Cancer;TNF alpha Signaling Pathway;AGE-RAGE pathway;Interleukin-11 Signaling Pathway;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Spinal Cord Injury;Alpha 6 Beta 4 signaling pathway;PDGF Pathway;JAK-STAT;Signal Transduction of S1P Receptor;Common Pathways Underlying Drug Addiction;Structural Pathway of Interleukin 1 (IL-1);Cardiac Hypertrophic Response;IL-3 Signaling Pathway;TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer;nerve growth factor pathway (ngf);Kit receptor signaling pathway;Focal Adhesion;Signaling of Hepatocyte Growth Factor Receptor;MFAP5-mediated ovarian cancer cell motility and invasiveness;Rac1-Pak1-p38-MMP-2 pathway;IL-6 signaling pathway;Hepatitis C and Hepatocellular Carcinoma;Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;MAPK Signaling Pathway;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;IL-4 Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;BMP Signaling Pathway in Eyelid Development;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PDGFR-beta pathway;Protein alkylation leading to liver fibrosis;Prion disease pathway;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;Insulin Signaling;IL-2 Signaling Pathway;Regulation of Actin Cytoskeleton;TGF-beta Receptor Signaling;EPO Receptor Signaling;T-Cell antigen Receptor (TCR) Signaling Pathway;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;Serotonin Receptor 4-6-7 and NR3C Signaling;Toll-like Receptor Signaling Pathway;Developmental Biology;Signaling by GPCR;Negative regulation of FGFR2 signaling;Signaling by FGFR2;RAGE;RUNX2 regulates osteoblast differentiation;TWEAK;MAP2K and MAPK activation;RUNX2 regulates bone development;Transcriptional regulation by RUNX2;Toll Like Receptor 7/8 (TLR7/8) Cascade;Notch;Interleukin-17 signaling;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;Signal Transduction;Gene expression (Transcription);Signaling by Interleukins;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;mechanism of gene regulation by peroxisome proliferators via ppara;inhibition of cellular proliferation by gleevec;bioactive peptide induced signaling pathway;role of erk5 in neuronal survival pathway;erk and pi-3 kinase are necessary for collagen binding in corneal epithelia;links between pyk2 and map kinases;regulation of splicing through sam68;repression of pain sensation by the transcriptional regulator dream;human cytomegalovirus and map kinase pathways;influence of ras and rho proteins on g1 to s transition;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;aspirin blocks signaling pathway involved in platelet activation;trefoil factors initiate mucosal healing;transcription factor creb and its extracellular signals;regulation of eif-4e and p70s6 kinase;melanocyte development and pigmentation pathway;stat3 signaling pathway;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;il-2 receptor beta chain in t cell activation;regulation of map kinase pathways through dual specificity phosphatases;phospholipids as signalling intermediaries;cadmium induces dna synthesis and proliferation in macrophages;multiple antiapoptotic pathways from igf-1r signaling lead to bad phosphorylation;ccr3 signaling in eosinophils;mcalpain and friends in cell motility;signaling pathway from g-protein families;how progesterone initiates the oocyte maturation;sprouty regulation of tyrosine kinase signals;ras-independent pathway in nk cell-mediated cytotoxicity;phosphorylation of mek1 by cdk5/p35 down regulates the map kinase pathway;role of -arrestins in the activation and targeting of map kinases;t cell receptor signaling pathway;bcr signaling pathway;calcium signaling by hbx of hepatitis b virus;erk1/erk2 mapk signaling pathway;role of erbb2 in signal transduction and oncology;keratinocyte differentiation;mapkinase signaling pathway;Generic Transcription Pathway;Prolactin;Regulation of HSF1-mediated heat shock response;Oncogene Induced Senescence;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;Alpha6Beta4Integrin;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;B cell receptor signaling;Toll-Like Receptors Cascades;Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Signal attenuation;Cellular responses to stress;GPCR Adenosine A2A receptor;Insulin receptor signalling cascade;Signaling by Insulin receptor;GPCR GroupI metabotropic glutamate receptor;GPCR signaling-G alpha q;CD4 T cell receptor signaling-ERK cascade;RNA Polymerase I Promoter Clearance;RNA Polymerase I Promoter Opening;igf-1 signaling pathway;RNA Polymerase II Transcription;Fcgamma receptor (FCGR) dependent phagocytosis;HGF;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;TCR;Oncostatin_M;IGF signaling;Innate Immune System;Immune System;RNA Polymerase I Transcription;Ghrelin;RHO GTPases Activate WASPs and WAVEs;FGF;Negative feedback regulation of MAPK pathway;ATF-2 transcription factor network;Fibroblast growth factor-1;insulin Mam;Nuclear Events (kinase and transcription factor activation);BCR;roles of arrestin dependent recruitment of src kinases in gpcr signaling;CRH;ErbB4 signaling events;Thrombin signalling through proteinase activated receptors (PARs);TGF-beta super family signaling pathway canonical;ceramide signaling pathway;GPCR signaling-G alpha s Epac and ERK;pdgf signaling pathway;IL1;Platelet activation, signaling and aggregation;RAF-independent MAPK1/3 activation;Cellular responses to external stimuli;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;RHO GTPase Effectors;Signaling by Rho GTPases;tpo signaling pathway;ERKs are inactivated;Signaling by NTRK1 (TRKA);Integrin;TGF_beta_Receptor;fc epsilon receptor i signaling in mast cells;Signaling by NTRKs;Golgi Cisternae Pericentriolar Stack Reorganization;BDNF;ERK/MAPK targets;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;agrin in postsynaptic differentiation;tgf beta signaling pathway;Ras signaling in the CD4+ TCR pathway;Glucocorticoid receptor regulatory network;role of mal in rho-mediated activation of srf;ErbB1 downstream signaling;Regulation of PTEN gene transcription;fmlp induced chemokine gene expression in hmc-1 cells;Hemostasis;MyD88 dependent cascade initiated on endosome;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;BCR signaling pathway;PTEN Regulation;PIP3 activates AKT signaling;JAK STAT pathway and regulation;PDGF;IL2;Regulation of actin dynamics for phagocytic cup formation;NCAM signaling for neurite out-growth;VEGFR3 signaling in lymphatic endothelium;IL11;NGF;Cellular response to heat stress;MAP kinase cascade;EPO signaling;Mitotic Prophase;Signaling events regulated by Ret tyrosine kinase;IL3;Signal transduction by L1;IL2-mediated signaling events;Gastrin;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;IFN-gamma pathway;L1CAM interactions;Angiopoietin receptor Tie2-mediated signaling;IL4;Axon guidance;M Phase;Leptin;Advanced glycosylation endproduct receptor signaling;Cell Cycle;IL6;TSH;TNFalpha;IL-7;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;Signaling by Receptor Tyrosine Kinases;MAPK3 (ERK1) activation;Signaling by RAS mutants;VEGF;Signaling by high-kinase activity BRAF mutants;ID;Cell Cycle, Mitotic;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;EGF;IL9;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;Intracellular signaling by second messengers;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;Osteopontin-mediated events;GMCSF-mediated signaling events;mTOR signaling pathway;ALK1 signaling events;Neurotrophic factor-mediated Trk receptor signaling;TRAIL signaling pathway;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Downstream signaling in naïve CD8+ T cells;Fc-epsilon receptor I signaling in mast cells;Netrin-mediated signaling events;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling;S1P1 pathway;Regulation of Telomerase;Retinoic acid receptors-mediated signaling;Regulation of cytoplasmic and nuclear SMAD2/3 signaling;S1P3 pathway;Syndecan-1-mediated signaling events;CXCR3-mediated signaling events;S1P4 pathway;EPHB forward signaling;Signaling events mediated by Stem cell factor receptor (c-Kit);Nongenotropic Androgen signaling;Arf6 downstream pathway;Role of Calcineurin-dependent NFAT signaling in lymphocytes;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;Endothelins;Presenilin action in Notch and Wnt signaling;FGF signaling pathway;Signaling events mediated by VEGFR1 and VEGFR2;Ceramide signaling pathway;Integrins in angiogenesis;Syndecan-2-mediated signaling events;Signaling events mediated by PRL;Cellular roles of Anthrax toxin;S1P2 pathway;VEGFR1 specific signals;CD4 T cell receptor signaling-JNK cascade;TSLP;insulin;FSH;Negative regulation of FGFR1 signaling;Signaling by FGFR1;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.993
Intolerance Scores
- loftool
- 0.459
- rvis_EVS
- -0.41
- rvis_percentile_EVS
- 26.23
Haploinsufficiency Scores
- pHI
- 0.968
- hipred
- Y
- hipred_score
- 0.771
- ghis
- 0.588
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.983
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapk3
- Phenotype
- skeleton phenotype; immune system phenotype; vision/eye 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); hearing/vestibular/ear phenotype; digestive/alimentary 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); 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); liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; cellular phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; endocrine/exocrine gland 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); growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- mapk3
- Affected structure
- pigment cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- MAPK cascade;activation of MAPK activity;positive regulation of protein phosphorylation;positive regulation of cytokine secretion involved in immune response;transcription initiation from RNA polymerase I promoter;protein phosphorylation;apoptotic process;DNA damage induced protein phosphorylation;cell cycle;axon guidance;fibroblast growth factor receptor signaling pathway;response to toxic substance;regulation of gene expression;positive regulation of gene expression;positive regulation of macrophage chemotaxis;regulation of phosphatidylinositol 3-kinase signaling;viral process;phosphorylation;peptidyl-serine phosphorylation;sensory perception of pain;arachidonic acid metabolic process;platelet activation;regulation of ossification;BMP signaling pathway;regulation of cellular pH;thyroid gland development;positive regulation of cyclase activity;lipopolysaccharide-mediated signaling pathway;positive regulation of telomere maintenance via telomerase;regulation of stress-activated MAPK cascade;positive regulation of histone phosphorylation;cellular response to amino acid starvation;cellular response to reactive oxygen species;positive regulation of histone acetylation;intracellular signal transduction;peptidyl-tyrosine autophosphorylation;Fc-epsilon receptor signaling pathway;Fc-gamma receptor signaling pathway involved in phagocytosis;outer ear morphogenesis;response to exogenous dsRNA;positive regulation of translation;positive regulation of transcription by RNA polymerase II;thymus development;regulation of DNA-binding transcription factor activity;cartilage development;stress-activated MAPK cascade;regulation of cytoskeleton organization;positive regulation of telomerase activity;Bergmann glial cell differentiation;face development;lung morphogenesis;trachea formation;cardiac neural crest cell development involved in heart development;protein-containing complex assembly;ERK1 and ERK2 cascade;positive regulation of ERK1 and ERK2 cascade;interleukin-1-mediated signaling pathway;response to epidermal growth factor;cellular response to mechanical stimulus;cellular response to cadmium ion;cellular response to organic substance;cellular response to tumor necrosis factor;caveolin-mediated endocytosis;regulation of Golgi inheritance;regulation of cellular response to heat;cellular response to dopamine;positive regulation of telomere capping;positive regulation of xenophagy;positive regulation of metallopeptidase activity;regulation of early endosome to late endosome transport;negative regulation of apolipoprotein binding
- Cellular component
- nucleus;nuclear envelope;nucleoplasm;cytoplasm;mitochondrion;early endosome;late endosome;Golgi apparatus;cytosol;cytoskeleton;plasma membrane;caveola;focal adhesion;pseudopodium;protein-containing complex
- Molecular function
- phosphotyrosine residue binding;protein serine/threonine kinase activity;MAP kinase activity;MAP kinase kinase activity;protein binding;ATP binding;kinase activity;phosphatase binding;identical protein binding;scaffold protein binding