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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAP3K20
mitogen-activated protein kinase kinase kinase 20
Chromosome 2 · 2q31.1
NCBI Gene: 51776Ensembl: ENSG00000091436.18HGNC: HGNC:17797UniProt: D4Q8H0
94PubMed Papers
22Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein autophosphorylationstress-activated MAPK cascadepyroptotic inflammatory responsemagnesium ion bindingmyopathy, centronuclear, 6, with fiber-type disproportionsplit-foot malformation-mesoaxial polydactyly syndromeWheezingcentronuclear myopathy
✦AI Summary

MAP3K20 (mitogen-activated protein kinase kinase kinase 20) is a stress-responsive serine/threonine kinase that functions as a sentinel for ribosomal dysfunction. The long isoform, ZAKα, directly associates with ribosomes by inserting its C-terminus into the ribosomal intersubunit space and binding 18S rRNA 1. Upon ribosome collisions or stalling—triggered by translation inhibition, amino acid starvation, UV irradiation, or DNA damage—ZAKα undergoes autophosphorylation and dimerizes through its SAM domains to activate downstream MAPK cascades, including p38 and JNK 23. This ribotoxic stress response (RSR) also activates GCN2-mediated signaling and triggers NLRP1 inflammasome activation, leading to pyroptosis in response to UVB stress and ribotoxins 4. Shorter MAP3K20 isoforms lacking the C-terminal ribosome-binding region cannot sense ribosomal stress but may antagonize ZAKα function 1. Clinically, biallelic MAP3K20 variants cause split-hand/foot malformation with fiber-type disproportion myopathy and hearing loss, while heterozygous variants are associated with craniosynostosis, ectodermal dysplasia, sensorineural hearing loss, and limb anomalies, likely through disrupted endothelial-mesenchymal transition 5. MAP3K20 also regulates myogenesis through the miR-133/MAP3K20/JNK/Klf4 feedback loop 6.

Sources cited
1
ZAKα (long isoform) directly binds ribosomes via C-terminal insertion into intersubunit space and 18S rRNA binding; shorter isoforms lack ribosome-binding capability
PMID: 32289254
2
ZAK functions as a sentinel for ribosome collisions and activates SAPK (p38/JNK) and GCN2 stress response pathways
PMID: 32610081
3
ZAK activation at collided ribosomes involves RACK1-mediated SAM domain dimerization and is negatively regulated by SERBP1
PMID: 41261136
4
MAP3K20/ZAKα mediates UVB and ribotoxin-induced NLRP1 inflammasome activation and pyroptosis through phosphorylation of NLRP1DR
PMID: 35857590
5
Heterozygous MAP3K20 variants cause craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia; biallelic variants cause split-hand/foot malformation and myopathy
PMID: 38451290
6
MAP3K20 regulates myogenesis through miR-133/MAP3K20/JNK/Klf4 feedback loop controlling muscle differentiation and regeneration
PMID: 34811940
Disease Associationsⓘ22
myopathy, centronuclear, 6, with fiber-type disproportionOpen Targets
0.75Strong
split-foot malformation-mesoaxial polydactyly syndromeOpen Targets
0.74Strong
WheezingOpen Targets
0.39Weak
centronuclear myopathyOpen Targets
0.39Weak
congenital fiber-type disproportion myopathyOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.37Weak
smoking initiationOpen Targets
0.36Weak
alcohol drinkingOpen Targets
0.34Weak
Split hand-split foot malformationOpen Targets
0.33Weak
asthmaOpen Targets
0.33Weak
joint diseaseOpen Targets
0.32Weak
hemorrhoidOpen Targets
0.31Weak
Abdominal Aortic AneurysmOpen Targets
0.31Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
substance abuseOpen Targets
0.30Weak
chronic obstructive pulmonary diseaseOpen Targets
0.28Weak
Alzheimer diseaseOpen Targets
0.27Weak
poisoningOpen Targets
0.26Weak
facial nerve diseaseOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.24Weak
Myopathy, centronuclear, 6, with fiber-type disproportionUniProt
Split-foot malformation with mesoaxial polydactylyUniProt
Pathogenic Variants14
NM_016653.3(MAP3K20):c.591G>A (p.Trp197Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 197
NC_000002.12:g.173263743AG[1]Pathogenic
not provided
★☆☆☆2024
NM_016653.3(MAP3K20):c.490_491del (p.Met164fs)Pathogenic
Myopathy, centronuclear, 6, with fiber-type disproportion|Centronuclear myopathy
★☆☆☆2024→ Residue 164
NM_016653.3(MAP3K20):c.549_550del (p.Ser184fs)Pathogenic
not provided
★☆☆☆2023→ Residue 184
NM_016653.3(MAP3K20):c.1601G>A (p.Trp534Ter)Pathogenic
not provided
★☆☆☆2023→ Residue 534
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter)Pathogenic
Split-foot malformation-mesoaxial polydactyly syndrome
★☆☆☆2022→ Residue 531
NM_016653.3(MAP3K20):c.1357C>T (p.Gln453Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 453
NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter)Pathogenic
Myopathy, centronuclear, 6, with fiber-type disproportion|not provided
★☆☆☆2022→ Residue 172
NM_016653.3(MAP3K20):c.1476+2T>ALikely pathogenic
not provided
★☆☆☆2022
NM_016653.3(MAP3K20):c.1313_1343dup (p.Pro452fs)Pathogenic
not provided
★☆☆☆2022→ Residue 452
NM_016653.3(MAP3K20):c.834CAA[1] (p.Asn279del)Likely pathogenic
MAP3K20-related disorder
★☆☆☆2018→ Residue 279
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter)Pathogenic
Myopathy, centronuclear, 6, with fiber-type disproportion|Split-foot malformation-mesoaxial polydactyly syndrome
☆☆☆☆2022→ Residue 95
NM_016653.2(MAP3K20):c.988-4814_1359+60delPathogenic
Split-foot malformation-mesoaxial polydactyly syndrome
☆☆☆☆2022
NM_016653.3(MAP3K20):c.1103T>G (p.Phe368Cys)Pathogenic
Split hand-foot malformation 1|Split-foot malformation-mesoaxial polydactyly syndrome
☆☆☆☆2022→ Residue 368
View on ClinVar ↗
Related Genes
PKN1Protein interaction96%MAP2K3Protein interaction96%MAP2K7Protein interaction95%MAP2K4Protein interaction94%ZNF567Protein interaction83%ZNF33AProtein interaction76%
Tissue Expression6 tissues
Heart
100%
Ovary
15%
Lung
10%
Brain
7%
Liver
4%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
MAP3K20PKN1MAP2K3MAP2K7MAP2K4ZNF567ZNF33A
PROTEIN STRUCTURE
Preparing viewer…
PDB5X5O · 1.87 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.57Moderately Constrained
pLIⓘ
0.14Tolerant
Observed/Expected LoF0.42 [0.31–0.57]
RankingsWhere MAP3K20 stands among ~20K protein-coding genes
  • #5,093of 20,598
    Most Researched94 · top quartile
  • #2,509of 5,498
    Most Pathogenic Variants14
  • #3,738of 17,882
    Most Constrained (LOEUF)0.57 · top quartile
Genes detectedMAP3K20
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ribosome Collisions Trigger General Stress Responses to Regulate Cell Fate.
PMID: 32610081
Cell · 2020
1.00
2
ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome.
PMID: 35857590
Science · 2022
0.90
3
DNA damage induces p53-independent apoptosis through ribosome stalling.
PMID: 38753784
Science · 2024
0.80
4
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.70
5
ZAKα Recognizes Stalled Ribosomes through Partially Redundant Sensor Domains.
PMID: 32289254
Mol Cell · 2020
0.60