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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSPAN16
tetraspanin 16
Chromosome 19 · 19p13.2
NCBI Gene: 26526Ensembl: ENSG00000130167.14HGNC: HGNC:30725UniProt: Q9UKR8
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranemembranetympanic membrane perforationbreast carcinomafamilial hypercholesterolemiaDisorder of lipid metabolism
✦AI Summary

TSPAN16 is a tetraspanin family member expressed on the plasma membrane with roles in cellular organization and disease pathogenesis. Tetraspanins are characterized by four transmembrane domains and regulate cell adhesion, migration, proliferation, and differentiation 1. TSPAN16 specifically participates in actin cytoskeleton regulation, functioning alongside RAB11FIP3 in this process 2. In disease contexts, TSPAN16 emerges as a significant hub gene in fibromyalgia pathophysiology. As part of an 11-gene signature identifying immune-related molecular subtypes, TSPAN16 shows negative correlation with CD4/CD8 T cell infiltration while positively correlating with macrophages, mast cells, monocytes, and neutrophils, as well as inflammatory response and angiogenesis pathways 3. Additionally, TSPAN16 is underexpressed in p185BCR-ABL-positive acute lymphoblastic leukemia relative to p210BCR-ABL-positive subtypes 4, suggesting differential involvement in BCR-ABL-mediated leukemogenesis. Regarding cardiac relevance, TSPAN16 was identified as a top candidate gene associated with prevalent heart failure with reduced ejection fraction in an integrative transomics analysis of the Framingham Heart Study 2. These findings suggest TSPAN16 participates in both immune dysregulation and cardiac remodeling, though mechanistic details require further investigation.

Sources cited
1
Tetraspanins regulate cell adhesion, migration, proliferation and differentiation with conserved structural features
PMID: 9714763
2
TSPAN16 identified as top gene for prevalent HF with reduced ejection fraction; involved in actin cytoskeleton regulation with RAB11FIP3
PMID: 31703168
3
TSPAN16 is an 11-gene hub gene in fibromyalgia negatively correlated with CD4/CD8 T cells, positively with macrophages/monocytes/neutrophils and inflammatory pathways
PMID: 40070065
4
TSPAN16 is underexpressed in p185BCR-ABL-positive versus p210BCR-ABL-positive adult acute lymphoblastic leukemia
PMID: 17312329
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
tympanic membrane perforationOpen Targets
0.22Weak
breast carcinomaOpen Targets
0.08Suggestive
familial hypercholesterolemiaOpen Targets
0.08Suggestive
Disorder of lipid metabolismOpen Targets
0.06Suggestive
Genetic visceral malformation of the liver, biliary tract, pancreas or spleenOpen Targets
0.05Suggestive
rheumatic heart diseaseOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPM3Protein interaction100%TRPC4Protein interaction72%SLC6A4Protein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
5%
Brain
3%
Ovary
1%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
TSPAN16TPM3TRPC4SLC6A4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UKR8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.58–1.18]
RankingsWhere TSPAN16 stands among ~20K protein-coding genes
  • #18,244of 20,598
    Most Researched6
  • #12,351of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedTSPAN16
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Development of a Novel 11-Gene Signature Related to Immune Subtypes for Fibromyalgia.
PMID: 40070065
Endocr Metab Immune Disord Drug Targets · 2026
1.00
2
Integrated Multiomics Approach to Identify Genetic Underpinnings of Heart Failure and Its Echocardiographic Precursors: Framingham Heart Study.
PMID: 31703168
Circ Genom Precis Med · 2019
0.86
3
Differential gene expression patterns and interaction networks in BCR-ABL-positive and -negative adult acute lymphoblastic leukemias.
PMID: 17312329
J Clin Oncol · 2007
0.71
4
The molecular characterisation of a novel tetraspanin protein, TM4-B(1).
PMID: 10500248
Biochim Biophys Acta · 1999
0.57
5
Cysteine Scanning Mutagenesis of TM4b-4c Loop of Glutamate Transporter EAAT1 Reveals Three Conformationally Sensitive Residues.
PMID: 29654220
Mol Pharmacol · 2018
0.43