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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MAPKAPK5
MAPK activated protein kinase 5
Chromosome 12 Β· 12q24.12-q24.13
NCBI Gene: 8550Ensembl: ENSG00000089022.15HGNC: HGNC:6889UniProt: Q8IW41
75PubMed Papers
21Diseases
1Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
KinaseTumor Suppressor
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of telomere maintenancep53 bindingprotein serine/threonine kinase activityprotein bindingneurocardiofaciodigital syndromechronic obstructive pulmonary diseasehypothyroidismgout
✦AI Summary

MAPKAPK5 is a serine/threonine kinase with dual roles as a tumor suppressor and developmental regulator. Primary function: MAPKAPK5 phosphorylates multiple substrates including p53, FOXO3, RHEB, and HSP27, modulating stress responses and cell cycle control [UniProt]. Mechanism: The protein acts as a negative regulator of mTORC1 signaling through RHEB phosphorylation and mediates Ras-induced senescence via p53 activation [UniProt]. MAPKAPK5 also participates in post-transcriptional MYC regulation by promoting FOXO3 nuclear localization, enabling miR-34b/c expression that represses MYC translation [UniProt]. Disease relevance: Biallelic loss-of-function variants in MAPKAPK5 cause neurocardiofaciodigital syndrome, characterized by severe developmental delay, intellectual disability, facial dysmorphism, cerebellar hypoplasia, and hypomyelination 12. Notably, the lncRNA MAPKAPK5-AS1 (antisense to this locus) shows oncogenic properties distinct from the protein kinase, promoting hepatocellular carcinoma and colorectal cancer progression through ceRNA mechanisms 3456. Clinical significance: MAPKAPK5 dysfunction represents an ultra-rare genetic cause of syndromic neurodevelopmental disease, while MAPKAPK5-AS1 dysregulation contributes to cancer pathogenesis, suggesting distinct therapeutic implications for protein versus RNA targets.

Sources cited
1
Biallelic MAPKAPK5 variants cause neurocardiofaciodigital syndrome with neurodevelopmental delay, intellectual disability, cerebellar hypoplasia, and hypomyelination
PMID: 36581449
2
MAPKAPK5 mutations associated with multiple congenital anomalies including neurological, cardiac, and genitourinary features
PMID: 35575217
3
lncRNA MAPKAPK5-AS1 promotes hepatocellular carcinoma cell proliferation by stabilizing TCF12 through SMURF2 inhibition
PMID: 39739005
4
MAPKAPK5-AS1 promotes colorectal cancer progression by cis-regulating MK5 and sponging let-7f-1-3p
PMID: 32690100
5
MAPKAPK5-AS1 drives hepatocellular carcinoma via miR-429/ZEB1 axis, regulating epithelial-mesenchymal transition
PMID: 35468721
6
MAPKAPK5-AS1 forms a regulatory loop with PLAGL2/HIF-1Ξ± in hepatocellular carcinoma progression via miR-154-5p sponging
PMID: 33596983
7
MAPKAPK5-AS1 promotes LPS-induced myocardial inflammation through miR-124-3p/E2F3 axis
PMID: 34666672
8
MAPKAPK5-AS1 is upregulated in non-functioning pituitary adenomas with potential role in pathogenesis
PMID: 37154079
Disease Associationsβ“˜21
neurocardiofaciodigital syndromeOpen Targets
0.69Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.36Weak
hypothyroidismOpen Targets
0.27Weak
goutOpen Targets
0.24Weak
coronary artery diseaseOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
rheumatoid arthritisOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Suggestive
thyroid cancerOpen Targets
0.08Suggestive
Ischemic strokeOpen Targets
0.07Suggestive
strokeOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
ThromboembolismOpen Targets
0.06Suggestive
age-related macular degenerationOpen Targets
0.05Suggestive
COVID-19Open Targets
0.05Suggestive
deep vein thrombosisOpen Targets
0.05Suggestive
Abnormality of the liverOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
Neurocardiofaciodigital syndromeUniProt
Pathogenic Variants6
NM_003668.4(MAPKAPK5):c.1077dup (p.Leu360fs)Pathogenic
Neurocardiofaciodigital syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 360
NM_003668.4(MAPKAPK5):c.671del (p.Leu224fs)Pathogenic
Neurocardiofaciodigital syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 224
NM_003668.4(MAPKAPK5):c.1303C>T (p.Gln435Ter)Pathogenic
Neurocardiofaciodigital syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 435
NM_003668.4(MAPKAPK5):c.320G>T (p.Gly107Val)Pathogenic
Neurocardiofaciodigital syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 107
NM_003668.4(MAPKAPK5):c.1180C>T (p.Arg394Ter)Pathogenic
Neurocardiofaciodigital syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 394
NM_003668.4(MAPKAPK5):c.207_208dup (p.Ala70fs)Pathogenic
Neurocardiofaciodigital syndrome
β˜†β˜†β˜†β˜†2022β†’ Residue 70
View on ClinVar β†—
Drug Targets1
GLPG-0259Phase II
MAP kinase-activated protein kinase 5 inhibitor
rheumatoid arthritis
Related Genes
SEPTIN7Protein interaction100%MAPK4Protein interaction100%DNAJB1Protein interaction100%MAPK14Protein interaction96%HSPB1Protein interaction96%HSPB2Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
72%
Brain
61%
Lung
58%
Liver
56%
Heart
50%
Gene Interaction Network
Click a node to explore
MAPKAPK5SEPTIN7MAPK4DNAJB1MAPK14HSPB1HSPB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IW41
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.28Tolerant
Observed/Expected LoF0.41 [0.29–0.60]
RankingsWhere MAPKAPK5 stands among ~20K protein-coding genes
  • #6,340of 20,598
    Most Researched75
  • #3,364of 5,498
    Most Pathogenic Variants6
  • #4,165of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedMAPKAPK5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CAF-EVs carry lncRNA MAPKAPK5-AS1 into hepatocellular carcinoma cells and promote malignant cell proliferation.
PMID: 39739005
Commun Biol Β· 2024
1.00
2
Upregulation of MAPKAPK5-AS1, PXN-AS1 and URB1-AS1 lncRNAs in non-functioning pituitary adenoma.
PMID: 37154079
J Cell Mol Med Β· 2023
0.90
3
Consolidating the association of biallelic
PMID: 36581449
J Med Genet Β· 2023
0.80
4
Long noncoding RNA MAPKAPK5-AS1 promotes colorectal cancer progression by cis-regulating the nearby gene MK5 and acting as a let-7f-1-3p sponge.
PMID: 32690100
J Exp Clin Cancer Res Β· 2020
0.70
5
MAPKAPK5-AS1 drives the progression of hepatocellular carcinoma via regulating miR-429/ZEB1 axis.
PMID: 35468721
BMC Mol Cell Biol Β· 2022
0.60