MAPK4
Basic information
Region (hg38): 18:50560087-50731826
Previous symbols: [ "PRKM4" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (78 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAPK4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002747.4. 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 | 2 | |||||
missense | 77 | 78 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 77 | 3 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MAPK4 | protein_coding | protein_coding | ENST00000400384 | 5 | 171747 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.219 | 0.781 | 124899 | 0 | 10 | 124909 | 0.0000400 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.68 | 282 | 373 | 0.756 | 0.0000271 | 3798 |
Missense in Polyphen | 110 | 175.12 | 0.62814 | 1858 | ||
Synonymous | 0.0896 | 173 | 175 | 0.991 | 0.0000140 | 1174 |
Loss of Function | 3.13 | 5 | 20.2 | 0.248 | 0.00000105 | 224 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000935 | 0.0000930 |
Ashkenazi Jewish | 0.000102 | 0.0000993 |
East Asian | 0.0000556 | 0.0000555 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000530 | 0.0000529 |
Middle Eastern | 0.0000556 | 0.0000555 |
South Asian | 0.00 | 0.00 |
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, ERK4/MAPK4 is phosphorylated at Ser-186 and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK4/MAPK4. May promote entry in the cell cycle (By similarity). {ECO:0000250}.;
- Pathway
- IL-17 signaling pathway - Homo sapiens (human);VEGF Signaling Pathway;MicroRNAs in cardiomyocyte hypertrophy;Integrin-mediated Cell Adhesion;B Cell Receptor Signaling Pathway;Signal Transduction of S1P Receptor;TGF-beta Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;ESC Pluripotency Pathways;Splicing factor NOVA regulated synaptic proteins;EGF-EGFR Signaling Pathway;Insulin Signaling;Regulation of Actin Cytoskeleton;Signal Transduction;MAPK6/MAPK4 signaling;MAPK family signaling cascades
(Consensus)
Recessive Scores
- pRec
- 0.0999
Intolerance Scores
- loftool
- 0.270
- rvis_EVS
- -0.51
- rvis_percentile_EVS
- 21.65
Haploinsufficiency Scores
- pHI
- 0.166
- hipred
- Y
- hipred_score
- 0.707
- ghis
- 0.526
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.411
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mapk4
- Phenotype
- growth/size/body region phenotype; normal 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); respiratory system phenotype;
Gene ontology
- Biological process
- MAPK cascade;protein phosphorylation;cell cycle;regulation of gene expression;intracellular signal transduction;cellular response to organic substance
- Cellular component
- nucleus;nucleoplasm;cytoplasm;cytosol
- Molecular function
- protein serine/threonine kinase activity;MAP kinase activity;protein binding;ATP binding;protein kinase binding;protein homodimerization activity;protein heterodimerization activity