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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMEM9
transmembrane protein 9
Chromosome 1 · 1q32.1
NCBI Gene: 252839Ensembl: ENSG00000116857.17HGNC: HGNC:18823UniProt: B1ALM5
57PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglysosomal lumen acidificationlysosomal membranelate endosomekidney diseaseamyotrophic lateral sclerosisneoplasmcancer
✦AI Summary

TMEM9 is a conserved transmembrane protein localized to lysosomes, late endosomes, and early endosomes 1 that functions as a regulatory β-subunit for endosomal chloride/proton exchangers. TMEM9 directly interacts with ClC-3, ClC-4, and ClC-5 transporters, inhibiting their ion transport activity to prevent pathogenic chloride accumulation and endosomal swelling 23. This inhibition requires phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) stabilization 2. TMEM9 also regulates endosomal ion homeostasis and trafficking; mice lacking both TMEM9 and TMEM9B die embryonically or perinatally 3. Beyond ion transport, TMEM9 modulates Wnt/β-catenin signaling through lysosomal acidification and APC degradation, relevant to hepatic regeneration 4. Clinically, TMEM9 is significantly upregulated across multiple cancer types, including lung adenocarcinoma and hepatocellular carcinoma 56. In lung adenocarcinoma, TMEM9 overexpression activates the MEK/ERK/STAT3 pathway to induce VEGF expression, promoting tumor angiogenesis and metastasis 6. Elevated TMEM9 correlates with poor prognosis and serves as an independent prognostic indicator in several cancers 5, highlighting its potential as a therapeutic target.

Sources cited
1
TMEM9 is a 183 amino-acid transmembrane protein localized to lysosomes, late endosomes, and ER
PMID: 12359240
2
TMEM9 inhibits ClC-3 by sealing the cytosolic chloride ion pathway and is stabilized by PtdIns(3,5)P2
PMID: 40670814
3
TMEM9 and TMEM9B are obligatory β-subunits for ClC-3, ClC-4, and ClC-5; inhibit ion transport to prevent chloride accumulation; knockout mice die perinatally
PMID: 40169677
4
TMEM9 is a structural subunit of chloride-proton antiporters CLCN3, CLCN4, and CLCN5 in early endosomes
PMID: 40437099
5
TMEM9 overexpression increases IL-6 and IL-1β secretion and enhances Wnt/β-catenin signaling
PMID: 30119033
6
TMEM9 is significantly overexpressed in multiple cancer types and correlates with poor overall and disease-free survival
PMID: 40053281
7
TMEM9 promotes lung adenocarcinoma progression via MEK/ERK/STAT3 pathway activation and VEGF upregulation
PMID: 38664392
8
TMEM9 expression is regulated by FOXD2-AS1/miR-150-5p axis and involved in sorafenib resistance in hepatocellular carcinoma
PMID: 31210410
Disease Associationsⓘ20
kidney diseaseOpen Targets
0.27Weak
amyotrophic lateral sclerosisOpen Targets
0.27Weak
neoplasmOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
adrenal cortex carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Cognitive impairmentOpen Targets
0.02Suggestive
Ehlers-Danlos syndromeOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cervical squamous cell carcinomaOpen Targets
0.01Suggestive
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndromeOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Mental deteriorationOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GHITMProtein interaction78%TMEM45AProtein interaction78%MINDY3Protein interaction78%TMEM9BCo-mentioned in literature33%TMEM198Shared pathway25%LYPD6Shared pathway25%
Tissue Expression6 tissues
Ovary
100%
Liver
88%
Brain
75%
Bone Marrow
65%
Heart
57%
Lung
47%
Gene Interaction Network
Click a node to explore
TMEM9GHITMTMEM45AMINDY3TMEM9BTMEM198LYPD6
PROTEIN STRUCTURE
Preparing viewer…
PDB9DNX · 2.86 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.57 [0.36–0.92]
RankingsWhere TMEM9 stands among ~20K protein-coding genes
  • #8,022of 20,598
    Most Researched57
  • #8,395of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedTMEM9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
EndoMAP.v1 charts the structural landscape of human early endosome complexes.
PMID: 40437099
Nature · 2025
1.00
2
TMEM9 promotes lung adenocarcinoma progression via activating the MEK/ERK/STAT3 pathway to induce VEGF expression.
PMID: 38664392
Cell Death Dis · 2024
0.90
3
Structural basis of ClC-3 transporter inhibition by TMEM9 and PtdIns(3,5)P
PMID: 40670814
Nat Struct Mol Biol · 2025
0.80
4
Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity.
PMID: 40169677
Nat Commun · 2025
0.70
5
Characterization of the novel human transmembrane protein 9 (TMEM9) that localizes to lysosomes and late endosomes.
PMID: 12359240
Biochem Biophys Res Commun · 2002
0.60