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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TM9SF2
transmembrane 9 superfamily member 2
Chromosome 13 · 13q32.3
NCBI Gene: 9375Ensembl: ENSG00000125304.11HGNC: HGNC:11865UniProt: A0A024QYR8
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeceramide metabolic processregulation of heparan sulfate proteoglycan biosynthetic processGolgi apparatusneurodegenerative diseaselysosomal storage diseaseasthmamultinodular goiter
✦AI Summary

TM9SF2 is a transmembrane protein belonging to the conserved TM9SF family, characterized by nine putative transmembrane domains and a variable extracellular domain 1. The protein localizes to the plasma membrane and cytoplasm in most cell types, though its expression is preferentially elevated in lung tissue 1. TM9SF2 functions as a channel or small molecule transporter in intracellular compartments, with demonstrated roles in Golgi integrity and cholesterol trafficking 2. Mechanistically, TM9SF2 maintains proper Golgi apparatus organization and facilitates retrograde transport pathways critical for ricin-induced cytotoxicity 2. The protein is essential for AAV transduction across multiple serotypes, mediating post-internalization intracellular trafficking events 3. In disease contexts, TM9SF2 is implicated as a colorectal cancer oncogene, with elevated expression in approximately 35% of CRC patients correlating with poor prognosis and disease progression 4. TM9SF2 knockdown reduces cancer cell growth and fitness through alterations in cell cycle progression and ceramide signaling 4. Additionally, TM9SF2 upregulation is associated with osteoarthritis severity through enhanced M2 macrophage phagocytosis 5, and serves as a shared biomarker between ischemic stroke and obstructive sleep apnea with negative correlation to monocyte infiltration 6.

Sources cited
1
TM9SF2 is part of a conserved protein family with nine transmembrane domains; preferentially expressed in lung; localizes to plasma membrane and cytoplasm in neurons and microglia
PMID: 38719197
2
TM9SF2 maintains Golgi integrity and regulates cholesterol trafficking; essential for ricin retrograde transport and toxicity
PMID: 40423301
3
TM9SF2 is required for AAV2 transduction across multiple serotypes; involved in viral trafficking
PMID: 32280726
4
TM9SF2 is a colorectal cancer oncogene; elevated in 35% of CRC patients; knockdown reduces cancer cell growth; upregulation correlates with poor relapse-free survival
PMID: 30333512
5
TM9SF2 is upregulated in osteoarthritis synovial tissues; sustains M2 macrophage phagocytic activity through PLC-γ1 activation
PMID: 38218914
6
TM9SF2 is a shared biomarker between ischemic stroke and obstructive sleep apnea; shows negative correlation with monocytes
PMID: 39475897
7
TM9SF2 upregulation promotes pancreatic adenocarcinoma progression through LINC01232-mediated mRNA stabilization
PMID: 31541081
8
TM9SF2 is essential for multi-serotype AAV transduction; involved in post-internalization intracellular trafficking and nuclear import
PMID: 39601564
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
asthmaOpen Targets
0.31Weak
multinodular goiterOpen Targets
0.29Weak
chronic rhinosinusitisOpen Targets
0.28Weak
ulcerative colitisOpen Targets
0.20Weak
inflammatory bowel diseaseOpen Targets
0.20Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
Eczematoid dermatitisOpen Targets
0.11Weak
WheezingOpen Targets
0.10Weak
lower respiratory tract diseaseOpen Targets
0.09Suggestive
Abnormal thrombosisOpen Targets
0.09Suggestive
respiratory system diseaseOpen Targets
0.09Suggestive
allergic diseaseOpen Targets
0.08Suggestive
deep vein thrombosisOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
allergic rhinitisOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMED10Protein interaction92%CERKShared pathway67%TM9SF3Shared pathway33%TM9SF1Shared pathway33%NSMAFShared pathway25%NMT2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Liver
76%
Heart
73%
Bone Marrow
72%
Lung
60%
Ovary
47%
Gene Interaction Network
Click a node to explore
TM9SF2TMED10CERKTM9SF3TM9SF1NSMAFNMT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99805
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.15 [0.09–0.26]
RankingsWhere TM9SF2 stands among ~20K protein-coding genes
  • #7,131of 20,598
    Most Researched66
  • #804of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedTM9SF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exploring common biomarkers of ischemic stroke and obstructive sleep apnea through bioinformatics analysis.
PMID: 39475897
PLoS One · 2024
1.00
2
Identification of sulfur metabolism-related gene signature in osteoarthritis and TM9SF2's sustenance effect on M2 macrophages' phagocytic activity.
PMID: 38218914
J Orthop Surg Res · 2024
0.90
3
Comparative analysis of the expression patterns of TM9SF family members in mice.
PMID: 38719197
Gene Expr Patterns · 2024
0.80
4
TM9SF2 Maintains Golgi Integrity and Regulates Ricin-Induced Cytotoxicity.
PMID: 40423301
Toxins (Basel) · 2025
0.70
5
Transposon mutagenesis screen in mice identifies TM9SF2 as a novel colorectal cancer oncogene.
PMID: 30333512
Sci Rep · 2018
0.60