MAPK6
mitogen-activated protein kinase 6, the group of Mitogen-activated protein kinases
Basic information
Region (hg38): 15:51952106-52067375
Previous symbols: [ "PRKM6" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (60 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPK6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002748.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 59 | 60 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 59 | 1 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MAPK6 | protein_coding | protein_coding | ENST00000261845 | 5 | 114160 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.696 | 0.304 | 125722 | 0 | 24 | 125746 | 0.0000954 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.727 | 333 | 373 | 0.894 | 0.0000179 | 4825 |
| Missense in Polyphen | 56 | 101.98 | 0.54914 | 1406 | ||
| Synonymous | -2.27 | 164 | 131 | 1.25 | 0.00000633 | 1303 |
| Loss of Function | 3.80 | 5 | 25.8 | 0.194 | 0.00000123 | 358 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000904 | 0.0000904 |
| Ashkenazi Jewish | 0.0000992 | 0.0000992 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000465 | 0.0000462 |
| European (Non-Finnish) | 0.000155 | 0.000123 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.000131 | 0.000131 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Atypical MAPK protein. Phosphorylates microtubule- associated protein 2 (MAP2) and MAPKAPK5. The precise role of the complex formed with MAPKAPK5 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPKAPK5, ERK3/MAPK6 is phosphorylated at Ser-189 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6. May promote entry in the cell cycle (By similarity). {ECO:0000250}.;
- Pathway
- IL-17 signaling pathway - Homo sapiens (human);VEGF Signaling Pathway;Integrin-mediated Cell Adhesion;Signal Transduction of S1P Receptor;MAPK6-MAPK4 signaling;Angiopoietin Like Protein 8 Regulatory Pathway;ESC Pluripotency Pathways;Insulin Signaling;Regulation of Actin Cytoskeleton;Signal Transduction;MAPK6/MAPK4 signaling;MAPK family signaling cascades
(Consensus)
Recessive Scores
- pRec
- 0.271
Intolerance Scores
- loftool
- 0.561
- rvis_EVS
- -0.67
- rvis_percentile_EVS
- 15.86
Haploinsufficiency Scores
- pHI
- 0.744
- hipred
- Y
- hipred_score
- 0.518
- ghis
- 0.596
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.993
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapk6
- 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; homeostasis/metabolism 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); 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; skeleton phenotype;
Gene ontology
- Biological process
- MAPK cascade;protein phosphorylation;cell cycle;signal transduction;regulation of gene expression;intracellular signal transduction;positive regulation of dendritic spine development;cellular response to organic substance
- Cellular component
- nucleus;nucleoplasm;cytoplasm;cytosol;septin cytoskeleton;protein-containing complex
- Molecular function
- protein serine/threonine kinase activity;MAP kinase activity;protein binding;ATP binding;protein kinase binding;protein heterodimerization activity