MAPK13
mitogen-activated protein kinase 13, the group of Mitogen-activated protein kinases
Basic information
Region (hg38): 6:36127809-36144524
Previous symbols: [ "PRKM13" ]
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 MAPK13 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 | 1 | |||||
| missense | 30 | 33 | ||||
| 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 | 30 | 2 | 2 |
Variants in MAPK13
This is a list of pathogenic ClinVar variants found in the MAPK13 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-36130593-T-G | not specified | Uncertain significance (Nov 17, 2022) | ||
| 6-36130659-T-C | not specified | Uncertain significance (Nov 26, 2024) | ||
| 6-36130697-G-A | not specified | Uncertain significance (Nov 30, 2022) | ||
| 6-36131273-C-T | Benign (Jan 08, 2018) | |||
| 6-36131339-A-G | not specified | Uncertain significance (Oct 25, 2022) | ||
| 6-36131368-C-G | not specified | Uncertain significance (Dec 05, 2022) | ||
| 6-36132630-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
| 6-36132648-C-T | not specified | Uncertain significance (Dec 28, 2022) | ||
| 6-36135779-C-T | not specified | Uncertain significance (Sep 20, 2023) | ||
| 6-36135780-G-A | Benign (Jan 08, 2018) | |||
| 6-36135791-A-G | not specified | Uncertain significance (May 13, 2024) | ||
| 6-36135817-G-A | not specified | Uncertain significance (Dec 07, 2024) | ||
| 6-36136040-G-A | not specified | Uncertain significance (Oct 20, 2021) | ||
| 6-36136496-G-A | not specified | Uncertain significance (Jun 22, 2023) | ||
| 6-36136653-T-C | Benign (Dec 31, 2019) | |||
| 6-36136668-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 6-36136734-G-A | not specified | Uncertain significance (Dec 05, 2022) | ||
| 6-36138375-G-C | not specified | Uncertain significance (Jun 02, 2024) | ||
| 6-36138394-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
| 6-36138435-C-A | not specified | Likely benign (Feb 22, 2024) | ||
| 6-36138436-G-A | not specified | Uncertain significance (Feb 22, 2024) | ||
| 6-36138879-C-G | not specified | Uncertain significance (May 14, 2024) | ||
| 6-36138880-T-G | Likely benign (Aug 01, 2022) | |||
| 6-36138899-A-C | not specified | Uncertain significance (Nov 27, 2024) | ||
| 6-36138924-G-A | not specified | Uncertain significance (Jun 22, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAPK13 | protein_coding | protein_coding | ENST00000211287 | 12 | 12257 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 6.72e-11 | 0.413 | 125433 | 0 | 315 | 125748 | 0.00125 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.475 | 201 | 221 | 0.910 | 0.0000132 | 2380 |
| Missense in Polyphen | 85 | 97.777 | 0.86933 | 1073 | ||
| Synonymous | 0.553 | 84 | 90.7 | 0.926 | 0.00000567 | 683 |
| Loss of Function | 1.12 | 19 | 25.1 | 0.758 | 0.00000146 | 253 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00302 | 0.00299 |
| Ashkenazi Jewish | 0.00440 | 0.00408 |
| East Asian | 0.000505 | 0.000489 |
| Finnish | 0.0000940 | 0.0000924 |
| European (Non-Finnish) | 0.00137 | 0.00120 |
| Middle Eastern | 0.000505 | 0.000489 |
| South Asian | 0.000641 | 0.000621 |
| Other | 0.00176 | 0.00163 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studied p38 MAPK isoforms. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K. Involved in cytoskeletal remodeling through phosphorylation of MAPT and STMN1. Mediates UV irradiation induced up-regulation of the gene expression of CXCL14. Plays an important role in the regulation of epidermal keratinocyte differentiation, apoptosis and skin tumor development. Phosphorylates the transcriptional activator MYB in response to stress which leads to rapid MYB degradation via a proteasome-dependent pathway. MAPK13 also phosphorylates and down-regulates PRKD1 during regulation of insulin secretion in pancreatic beta cells. {ECO:0000269|PubMed:11500363, ECO:0000269|PubMed:11943212, ECO:0000269|PubMed:15632108, ECO:0000269|PubMed:17256148, ECO:0000269|PubMed:18006338, ECO:0000269|PubMed:18367666, ECO:0000269|PubMed:20478268, ECO:0000269|PubMed:9731215}.;
- Pathway
- Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Platelet activation - Homo sapiens (human);Relaxin 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);VEGF signaling pathway - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Influenza A - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - 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);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);Rap1 signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Shigellosis - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);VEGF Signaling Pathway;EGF-Core;Regulation of toll-like receptor signaling pathway;Parkinsons Disease Pathway;Retinoblastoma (RB) in Cancer;Rac1-Pak1-p38-MMP-2 pathway;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling;MAPK Signaling Pathway;RIG-I-like Receptor Signaling;Angiopoietin Like Protein 8 Regulatory Pathway;Oxidative Damage;Protein alkylation leading to liver fibrosis;EMT transition in Colorectal Cancer;Insulin Signaling;Toll-like Receptor Signaling Pathway;stathmin and breast cancer resistance to antimicrotubule agents;keratinocyte differentiation;mapkinase signaling pathway;NOD1/2 Signaling Pathway;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Innate Immune System;Immune System;BMP2 signaling TAK1;IL-1 p38;TGF-beta super family signaling pathway canonical;TLR p38;IL-7 signaling;JAK STAT pathway and regulation;EPO signaling;TGF-beta signaling TAK1;TLR ECSIT MEKK1 p38;VEGF;Signaling mediated by p38-gamma and p38-delta
(Consensus)
Recessive Scores
- pRec
- 0.0921
Intolerance Scores
- loftool
- 0.901
- rvis_EVS
- -0.11
- rvis_percentile_EVS
- 45.26
Haploinsufficiency Scores
- pHI
- 0.368
- hipred
- Y
- hipred_score
- 0.533
- ghis
- 0.504
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.997
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapk13
- Phenotype
- growth/size/body region phenotype; normal phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- response to osmotic stress;cell cycle;regulation of gene expression;peptidyl-serine phosphorylation;positive regulation of interleukin-6 production;cellular response to UV;intracellular signal transduction;positive regulation of inflammatory response;stress-activated MAPK cascade;cellular response to hydrogen peroxide;cellular response to organic substance;cellular response to interleukin-1;cellular response to sorbitol;cellular response to anisomycin;cellular response to sodium arsenite
- Cellular component
- nucleus;cytoplasm;cytosol
- Molecular function
- protein serine/threonine kinase activity;MAP kinase activity;protein binding;ATP binding