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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TMBIM1
transmembrane BAX inhibitor motif containing 1
Chromosome 2 Β· 2q35
NCBI Gene: 64114Ensembl: ENSG00000135926.15HGNC: HGNC:23410UniProt: B3KSM0
39PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
death receptor bindingGolgi apparatusGolgi membranelysosomal membranecolorectal cancerinflammatory bowel diseaseMoyamoya diseasecholelithiasis
✦AI Summary

TMBIM1 (transmembrane BAX inhibitor motif containing 1) is a multifunctional regulator of cellular degradation pathways with broad disease relevance. Mechanistically, TMBIM1 functions as a multivesicular body (MVB) regulator that promotes lysosomal degradation of key signaling proteins, particularly toll-like receptor 4 (TLR4) 12. TMBIM1 interacts with tumor susceptibility gene 101 via a PTAP motif to facilitate MVB formation and subsequent lysosomal delivery 2. Beyond lysosomal pathways, TMBIM1 regulates autophagy and mitophagy; it promotes autophagic degradation of E-cadherin in glioblastoma 3 and facilitates Parkin-mediated mitophagy during sepsis-induced cardiac dysfunction 4. In cancer contexts, TMBIM1 demonstrates pleiotropic effects. It is upregulated in pancreatic cancer, where it orchestrates an immunosuppressive microenvironment through a TMBIM1-YBX1 axis that increases PD-L1 and CCL2 expression, promoting MDSC infiltration 5. A genome-wide association study identified TMBIM1 as part of a colorectal cancer risk locus (rs992157) showing pleiotropy with inflammatory bowel disease 6, with epigenetic analysis revealing methylation changes at TMBIM1-proximal CpG sites associate with air pollution-related CRC risk 7. In non-malignant disease, TMBIM1 is protective: overexpression inhibits NAFLD progression and steatohepatitis through TLR4 degradation 1, alleviates pathological cardiac hypertrophy 2, and reduces sepsis-induced cardiac dysfunction 4. miR-582-3p-mediated TMBIM1 suppression ameliorates NASH 8.

Sources cited
1
Mechanistically, TMBIM1 functions as a multivesicular body (MVB) regulator that promotes lysosomal degradation of key signaling proteins, particularly toll-like receptor 4 (TLR4) , .
PMID: 29229612
2
Beyond lysosomal pathways, TMBIM1 regulates autophagy and mitophagy; it promotes autophagic degradation of E-cadherin in glioblastoma and facilitates Parkin-mediated mitophagy during sepsis-induced cardiac dysfunction .
PMID: 40394049
3
Beyond lysosomal pathways, TMBIM1 regulates autophagy and mitophagy; it promotes autophagic degradation of E-cadherin in glioblastoma and facilitates Parkin-mediated mitophagy during sepsis-induced cardiac dysfunction .
PMID: 39937566
4
It is upregulated in pancreatic cancer, where it orchestrates an immunosuppressive microenvironment through a TMBIM1-YBX1 axis that increases PD-L1 and CCL2 expression, promoting MDSC infiltration .
PMID: 40083936
5
A genome-wide association study identified TMBIM1 as part of a colorectal cancer risk locus (rs992157) showing pleiotropy with inflammatory bowel disease , with epigenetic analysis revealing methylation changes at TMBIM1-proximal CpG sites associate with air pollution-related CRC risk .
PMID: 27005424
6
A genome-wide association study identified TMBIM1 as part of a colorectal cancer risk locus (rs992157) showing pleiotropy with inflammatory bowel disease , with epigenetic analysis revealing methylation changes at TMBIM1-proximal CpG sites associate with air pollution-related CRC risk .
PMID: 38631091
7
Mechanistically, TMBIM1 functions as a multivesicular body (MVB) regulator that promotes lysosomal degradation of key signaling proteins, particularly toll-like receptor 4 (TLR4) , .
PMID: 28481357
8
miR-582-3p-mediated TMBIM1 suppression ameliorates NASH .
PMID: 37823951
Disease Associationsβ“˜20
colorectal cancerOpen Targets
0.29Weak
inflammatory bowel diseaseOpen Targets
0.27Weak
Moyamoya diseaseOpen Targets
0.26Weak
cholelithiasisOpen Targets
0.18Weak
colorectal adenomaOpen Targets
0.17Weak
gallstonesOpen Targets
0.16Weak
metabolic diseaseOpen Targets
0.16Weak
response to statinOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
liver cancerOpen Targets
0.07Suggestive
Rare genetic vascular diseaseOpen Targets
0.07Suggestive
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
aortic aneurysm, familial thoracic 7Open Targets
0.05Suggestive
gliomaOpen Targets
0.05Suggestive
aortic aneurysm, familial thoracic 6Open Targets
0.04Suggestive
Moyamoya disease 5Open Targets
0.04Suggestive
aortic aneurysm, familial abdominal, 1Open Targets
0.04Suggestive
aortic aneurysm, familial thoracic 4Open Targets
0.04Suggestive
Pathogenic Variants1
NM_022152.6(TMBIM1):c.827G>A (p.Arg276Gln)Likely pathogenic
Moyamoya angiopathy
β˜†β˜†β˜†β˜†β†’ Residue 276
View on ClinVar β†—
Related Genes
GRINAShared pathway60%FAIM2Shared pathway30%TMBIM4Shared pathway22%VSTM2LShared pathway20%SCRT2Shared pathway20%CACHD1Shared pathway20%
Tissue Expression6 tissues
Lung
100%
Liver
71%
Heart
48%
Ovary
43%
Brain
37%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
TMBIM1GRINAFAIM2TMBIM4VSTM2LSCRT2CACHD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q969X1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.62–1.11]
RankingsWhere TMBIM1 stands among ~20K protein-coding genes
  • #10,407of 20,598
    Most Researched39
  • #5,182of 5,498
    Most Pathogenic Variants1
  • #11,436of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedTMBIM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Impact of ambient air pollution on colorectal cancer risk and survival: insights from a prospective cohort and epigenetic Mendelian randomization study.
PMID: 38631091
EBioMedicine Β· 2024
1.00
2
The TMBIM1-YBX1 axis orchestrates MDSC recruitment and immunosuppressive microenvironment in pancreatic cancer.
PMID: 40083936
Theranostics Β· 2025
0.90
3
Tmbim1 is a multivesicular body regulator that protects against non-alcoholic fatty liver disease in mice and monkeys by targeting the lysosomal degradation of Tlr4.
PMID: 28481357
Nat Med Β· 2017
0.80
4
Targeting Transmembrane BAX Inhibitor Motif Containing 1 Alleviates Pathological Cardiac Hypertrophy.
PMID: 29229612
Circulation Β· 2018
0.70
5
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
PMID: 27005424
Hum Mol Genet Β· 2016
0.60