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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMEM9B
TMEM9 domain family member B
Chromosome 11 · 11p15.4
NCBI Gene: 56674Ensembl: ENSG00000175348.12HGNC: HGNC:1168UniProt: B7Z6P5
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of canonical NF-kappaB signal transductionlysosomal membraneearly endosome membraneotosclerosistype 2 diabetes mellitusdehydrated hereditary stomatocytosishypertriglyceridemia 2
✦AI Summary

TMEM9B is a glycosylated transmembrane protein localized to lysosomal and early endosomal membranes 1 that functions as an obligatory β-subunit for endosomal chloride/proton exchangers ClC-3, ClC-4, and ClC-5 23. TMEM9B enhances production of pro-inflammatory cytokines induced by TNF, IL-1β, and TLR ligands 1. Mechanistically, it acts downstream of RIP1 and upstream of MAPK and IκB kinases at the level of the TAK1 complex, playing an essential role in TNF activation of both NF-κB and MAPK signaling pathways 1. At the molecular level, TMEM9B inhibits CLC-3 by sealing the cytosolic chloride ion pathway entrance, with this inhibition stabilized by phosphatidylinositol 3,5-bisphosphate 2. This tonic inhibition prevents pathological chloride accumulation and endosomal swelling 3. TMEM9B is not required for TNF- or Fas ligand-induced apoptosis 1. Dysregulation of TMEM9B methylation has been associated with coronary heart disease and atrial fibrillation pathogenesis 45. These findings indicate TMEM9B is a critical regulator of inflammatory signaling and endosomal ion homeostasis, suggesting therapeutic potential in inflammatory and cardiovascular diseases.

Sources cited
1
TMEM9B localization, role in TNF/IL-1β/TLR signaling, downstream position relative to RIP1 and TAK1, upstream role to MAPK/IκB kinases, and requirement for pro-inflammatory cytokine production
PMID: 18541524
2
TMEM9B interaction with ClC-3, ClC-4, ClC-5 as β-subunit, inhibition mechanism by sealing chloride ion pathway, and stabilization by PtdIns(3,5)P2
PMID: 40670814
3
TMEM9B as obligatory β-subunit for endosomal CLCs, role in preventing pathogenic chloride accumulation and endosomal swelling, and inhibitory function mechanism
PMID: 40169677
4
TMEM9B differential methylation in coronary heart disease and association with inflammatory markers
PMID: 38246423
5
TMEM9B as one of four most significantly methylated genes in atrial fibrillation pathogenesis
PMID: 39696495
Disease Associationsⓘ20
otosclerosisOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
hypertriglyceridemia 2Open Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
familial hypercholesterolemiaOpen Targets
0.03Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.03Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.03Suggestive
sitosterolemia 2Open Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
sarcopeniaOpen Targets
0.01Suggestive
metabolic diseaseOpen Targets
0.01Suggestive
immunoglobulin G4-related sclerosing diseaseOpen Targets
0.00Suggestive
multiple myelomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CXXC5Shared pathway100%CC2D1AShared pathway100%C18orf32Shared pathway100%LURAP1LShared pathway100%TMEM101Shared pathway100%LITAFShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
72%
Heart
69%
Lung
41%
Liver
34%
Ovary
23%
Gene Interaction Network
Click a node to explore
TMEM9BCXXC5CC2D1AC18orf32LURAP1LTMEM101LITAF
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q543A1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.45Tolerant
Observed/Expected LoF0.38 [0.22–0.72]
RankingsWhere TMEM9B stands among ~20K protein-coding genes
  • #13,103of 20,598
    Most Researched25
  • #5,573of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedTMEM9B
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
EndoMAP.v1 charts the structural landscape of human early endosome complexes.
PMID: 40437099
Nature · 2025
1.00
2
The lysosomal transmembrane protein 9B regulates the activity of inflammatory signaling pathways.
PMID: 18541524
J Biol Chem · 2008
0.89
3
Down-regulation of human-specific lncRNA TMEM9B-AS1 in skeletal muscle of people with type 2 diabetes affects ribosomal biogenesis.
PMID: 40632859
Sci Adv · 2025
0.78
4
Structural basis of ClC-3 transporter inhibition by TMEM9 and PtdIns(3,5)P
PMID: 40670814
Nat Struct Mol Biol · 2025
0.67
5
Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity.
PMID: 40169677
Nat Commun · 2025
0.56