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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TM9SF4
transmembrane 9 superfamily member 4
Chromosome 20 · 20q11.21
NCBI Gene: 9777Ensembl: ENSG00000101337.16HGNC: HGNC:30797UniProt: A0A024QYR3
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi to plasma membrane transportprotein bindingcargo receptor activityresponse to hypoxiaelevated lactate dehydrogenaseinflammatory bowel diseaseautism spectrum disorderposterior cortical atrophy
✦AI Summary

TM9SF4 is a transmembrane protein that regulates cellular adhesion, intracellular pH homeostasis, and autophagy with significant roles in both normal physiology and disease. Primary function: TM9SF4 facilitates cell surface localization of glycine-rich transmembrane proteins and assembles V-ATPase complexes to regulate intracellular pH 1. Mechanism: TM9SF4 contains an N-terminal fragment that binds F-actin to promote actin disassembly via cofilin activation, facilitating cancer cell motility 2. It also interacts with PLOD3 to activate mTOR-dependent autophagy 3 and regulates macrophage polarization and epithelial barrier function through ER stress modulation 4. Disease relevance: TM9SF4 is overexpressed in acute myeloid leukemias and metastatic melanoma, driving cannibalistic behavior—aberrant phagocytosis of neighboring cells under nutrient deprivation or acidic conditions 5. It mediates pH alterations enabling drug resistance and invasiveness in colorectal and ovarian cancers 2. Conversely, reduced TM9SF4 expression associates with inflammatory bowel disease severity 4 and intrahepatic cholestasis of pregnancy 6. Clinical significance: TM9SF4 serves as a potential biomarker and therapeutic target in multiple cancers, while restoration of expression may benefit inflammatory and metabolic diseases.

Sources cited
1
TM9SF4 ensures efficient cell surface localization of glycine-rich transmembrane domain proteins
PMID: 25999474
2
TM9SF4 N-terminal fragment binds F-actin to promote cofilin-mediated actin disassembly; knockdown abolishes ovarian cancer tumor growth and metastasis
PMID: 36175399
3
TM9SF4 interacts with PLOD3 to promote colorectal cancer progression through autophagy activation
PMID: 40133271
4
TM9SF4 knockout aggravates IBD; deficiency increases ER stress, promotes inflammation, and impairs epithelial barrier function
PMID: 35398597
5
TM9SF4 is a shared protein between metastatic melanoma cells and amoebas, related to cancer cell cannibalism behavior
PMID: 26511709
6
TM9SF4 downregulation via miR-370-3p overexpression contributes to intrahepatic cholestasis of pregnancy pathogenesis
PMID: 40756340
Disease Associationsⓘ20
elevated lactate dehydrogenaseOpen Targets
0.25Weak
inflammatory bowel diseaseOpen Targets
0.16Weak
autism spectrum disorderOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
PainOpen Targets
0.06Suggestive
Chronic painOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.05Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
colitisOpen Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Congenital chronic diarrhea with protein-losing enteropathyOpen Targets
0.04Suggestive
congenital diarrhea 7 with exudative enteropathyOpen Targets
0.04Suggestive
DiarrheaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEC24CProtein interaction79%PLAGL2Protein interaction72%ICAM4Shared pathway17%SIGLEC14Shared pathway14%SIGLEC11Shared pathway14%MUC16Shared pathway14%
Tissue Expression6 tissues
Liver
100%
Heart
94%
Ovary
93%
Lung
89%
Brain
79%
Bone Marrow
57%
Gene Interaction Network
Click a node to explore
TM9SF4SEC24CPLAGL2ICAM4SIGLEC14SIGLEC11MUC16
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92544
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.27 [0.20–0.38]
RankingsWhere TM9SF4 stands among ~20K protein-coding genes
  • #9,027of 20,598
    Most Researched49
  • #1,801of 17,882
    Most Constrained (LOEUF)0.38 · top quartile
Genes detectedTM9SF4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human TM9SF4 Is a New Gene Down-Regulated by Hypoxia and Involved in Cell Adhesion of Leukemic Cells.
PMID: 25961573
PLoS One · 2015
1.00
2
TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease.
PMID: 35398597
Cell Mol Gastroenterol Hepatol · 2022
0.90
3
Hypomethylation induced overexpression of PLOD3 facilitates colorectal cancer progression through TM9SF4-mediated autophagy.
PMID: 40133271
Cell Death Dis · 2025
0.80
4
TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis.
PMID: 36175399
Nat Commun · 2022
0.70
5
Yinchenhao Decoction Protects Against Intrahepatic Cholestasis During Pregnancy Through the miR-370-3p/TM9SF4/KIT Axis.
PMID: 40756340
Biomed Res Int · 2025
0.60