HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
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.
MAP3K6
mitogen-activated protein kinase kinase kinase 6
Chromosome 1 Β· 1p36.11
NCBI Gene: 9064Ensembl: ENSG00000142733.19HGNC: HGNC:6858UniProt: O95382
35PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein phosphorylationATP bindingMAP kinase kinase kinase activitymagnesium ion bindingFamilial gastric cancergoutskin diseasegastric cancer
✦AI Summary

MAP3K6 (mitogen-activated protein kinase kinase kinase 6) is a serine/threonine protein kinase that functions as a component of signal transduction cascades, selectively activating the JNK pathway while not affecting ERK or p38 kinase pathways [UniProt]. The protein exhibits catalytic activity through ATP binding and magnesium ion binding, facilitating protein phosphorylation in response to cellular signals. Regarding disease relevance, MAP3K6 has emerged as a candidate gastric cancer predisposition gene. Initial studies identified germline MAP3K6 variants (p.P946L, p.F849Sfs*142, p.P958T, p.D200Y, p.V207G) in families with familial gastric cancer without CDH1 mutations, with evidence of somatic second-hit mutations and DNA hypermethylation in tumor specimens 1. However, subsequent large-scale screening revealed that deleterious MAP3K6 variants occur frequently in the general population, substantially diminishing its classification as a specific gastric cancer predisposition gene 2. MAP3K6 mutations have also been detected in mixed-phenotype acute leukemia cases 3 and basal ganglia calcification with neurological manifestations 4. Clinically, MAP3K6 regulates vascular endothelial growth factor (VEGF) expression under both normoxic and hypoxic conditions, with MAP3K6 downregulation suppressing tumor angiogenesis and growth 5. Therapeutic inhibition of MAP3K6 has shown promise in gastric cancer cell models, where salidroside-mediated MAP3K6 downregulation induced apoptosis and cell cycle arrest 6.

Sources cited
1
Germline MAP3K6 coding variants identified in familial gastric cancer families; somatic second-hit mutations and DNA hypermethylation observed in tumor specimens
PMID: 25340522
2
Deleterious MAP3K6 variants occur frequently in general population; MAP3K6 should not be considered a gastric cancer predisposition gene unlike CTNNA1
PMID: 29330337
3
MAP3K6 regulates VEGF expression under normoxic and hypoxic conditions; MAP3K6 downregulation suppresses tumor growth and angiogenesis in vivo
PMID: 19246638
4
MAP3K6 mutations detected in mixed-phenotype acute leukemia genomic landscape; identified as potentially targetable biomarker
PMID: 36232559
5
Salidroside treatment downregulates MAP3K6 expression, inducing gastric cancer cell apoptosis and S-phase cell cycle arrest
PMID: 38436092
6
MAP3K6 variant associated with monogenic vascular conditions presenting with basal ganglia calcification and neurological symptoms
PMID: 40947452
7
MAP3K6 implicated as newly identified gene potentially affecting gastric cancer susceptibility
PMID: 27899187
Disease Associationsβ“˜20
Familial gastric cancerOpen Targets
0.37Weak
goutOpen Targets
0.21Weak
skin diseaseOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
strokeOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Cognitive impairmentOpen Targets
0.01Suggestive
ischemiaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_004672.5(MAP3K6):c.2544del (p.Phe849fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 849
View on ClinVar β†—
Related Genes
MAP2K6Protein interaction93%MAP3K15Shared pathway75%MAP3K5Protein interaction65%MAP2K3Protein interaction64%MAP3K21Shared pathway50%MAPK6Shared pathway40%
Tissue Expression6 tissues
Lung
100%
Heart
35%
Ovary
24%
Liver
16%
Bone Marrow
3%
Brain
2%
Gene Interaction Network
Click a node to explore
MAP3K6MAP2K6MAP3K15MAP3K5MAP2K3MAP3K21MAPK6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95382
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.62–0.85]
RankingsWhere MAP3K6 stands among ~20K protein-coding genes
  • #11,007of 20,598
    Most Researched35
  • #5,216of 5,498
    Most Pathogenic Variants1
  • #7,456of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedMAP3K6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic predisposition to gastric cancer.
PMID: 27899187
Semin Oncol Β· 2016
1.00
2
Role of germline aberrations affecting
PMID: 29330337
J Med Genet Β· 2018
0.90
3
Genomic Landscape of Mixed-Phenotype Acute Leukemia.
PMID: 36232559
Int J Mol Sci Β· 2022
0.80
4
Germline mutations in MAP3K6 are associated with familial gastric cancer.
PMID: 25340522
PLoS Genet Β· 2014
0.70
5
Recognition of and recent issues in hereditary diffuse gastric cancer.
PMID: 26049741
J Gastroenterol Β· 2015
0.60