MAPK7

Chr 17

mitogen-activated protein kinase 7

Also known as: BMK1, ERK4, ERK5, PRKM7

NCBI Gene: 5598ENSG00000166484UniProt: Q13164OMIM: 602521

MAPK7 encodes a MAP kinase that regulates gene expression by phosphorylating transcription factors in response to extracellular signals, playing important roles in cell proliferation, differentiation, survival, and endothelial function. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and cerebral atrophy, typically presenting in early infancy. The gene is highly constrained against loss-of-function variants, indicating that complete loss of MAPK7 function is likely pathogenic.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.61
Clinical Summary— MAPK7
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.35) despite low pLI — interpret in context.
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ClinVar Variants
102 unique Pathogenic / Likely Pathogenic· 124 VUS of 241 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.61LOEUF
pLI 0.003
Z-score 3.07
OE 0.35 (0.21–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.80Z-score
OE missense 0.78 (0.71–0.84)
402 obs / 517.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.35 (0.21–0.61)
0≤0.351.4
Missense OE0.78 (0.71–0.84)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 9 / 25.8Missense obs/exp: 402 / 517.2Syn Z: -1.61

ClinVar Variant Classifications

241 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic100
Likely Pathogenic2
VUS124
Likely Benign5
100
Pathogenic
2
Likely Pathogenic
124
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
3
97
0
100
Likely Pathogenic
0
0
2
0
2
VUS
0
111
13
0
124
Likely Benign
0
3
0
2
5
Benign
0
0
0
0
0
Total01171122231

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MAPK7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Machine learning-guided discovery of mitogen-activated protein kinase 7 (MAPK7 inhibitors): integrating virtual screening, docking, and molecular dynamics simulations.
Hayat C et al.·In Silico Pharmacol
2026
Mapk7 enhances osteogenesis and suppresses adipogenesis by activating Lrp6/β-catenin signaling axis in mesenchymal stem cells.
Li C et al.·Commun Biol
2025Open Access
Macrophage MAPK7/AhR/STAT3 Signaling Mediates Mitochondrial ROS Burst and Enterohepatic Inflammatory Responses Induced by Deoxynivalenol Relevant to Low-Dose Exposure in Children.
Zhang Q et al.·Environ Sci Technol
2024
Identification of a Novel ERK5 (MAPK7) Inhibitor, MHJ-627, and Verification of Its Potent Anticancer Efficacy in Cervical Cancer HeLa Cells.
Hwang J et al.·Curr Issues Mol Biol
2023Open Access
Mapk7 deletion in chondrocytes causes vertebral defects by reducing MEF2C/PTEN/AKT signaling.
Wu C et al.·Genes Dis
2024Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients