MAPK4

mitogen-activated protein kinase 4, the group of Mitogen-activated protein kinases

Basic information

Region (hg38): 18:50560087-50731826

Previous symbols: [ "PRKM4" ]

Links

ENSG00000141639 ∙ NCBI:5596 ∙ OMIM:176949 ∙ HGNC:6878 ∙ Uniprot:P31152 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAPK4 gene.

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.

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				2		2
missense			52			52
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	52	2	0

Variants in MAPK4

This is a list of pathogenic ClinVar variants found in the MAPK4 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-50663980-A-G		not specified	Uncertain significance (Jan 24, 2024)
18-50663983-G-T		not specified	Uncertain significance (Oct 08, 2024)
18-50664007-G-A		not specified	Uncertain significance (Feb 22, 2023)
18-50664008-G-A		not specified	Uncertain significance (Aug 11, 2024)
18-50664079-C-T		not specified	Uncertain significance (Sep 13, 2023)
18-50664086-G-A		not specified	Uncertain significance (May 23, 2024)
18-50664141-C-T			Likely benign (Jan 01, 2023)
18-50664170-G-A		not specified	Uncertain significance (Nov 06, 2024)
18-50664183-C-A		not specified	Uncertain significance (Apr 17, 2023)
18-50664255-C-A		not specified	Uncertain significance (Mar 25, 2024)
18-50664268-G-A		not specified	Uncertain significance (Mar 19, 2024)
18-50664289-G-A		not specified	Uncertain significance (Feb 23, 2023)
18-50664314-G-A		not specified	Uncertain significance (Aug 20, 2024)
18-50664346-A-G		not specified	Uncertain significance (May 31, 2023)
18-50664445-G-C		not specified	Uncertain significance (Mar 12, 2024)
18-50664481-G-A		not specified	Uncertain significance (Aug 10, 2021)
18-50715115-C-T		not specified	Uncertain significance (Mar 25, 2024)
18-50715168-G-A		not specified	Uncertain significance (Jun 02, 2023)
18-50721934-C-T			Likely benign (Jan 01, 2023)
18-50721945-T-A		not specified	Uncertain significance (Oct 12, 2021)
18-50721948-G-A			Likely benign (Jun 01, 2022)
18-50721960-G-A		not specified	Uncertain significance (Aug 20, 2024)
18-50722062-G-C		not specified	Uncertain significance (Apr 13, 2022)
18-50722092-C-A		not specified	Uncertain significance (Oct 24, 2023)
18-50726058-G-A		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

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: dbNSFP

• 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