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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TPCN2
two pore segment channel 2
Chromosome 11 Β· 11q13.3
NCBI Gene: 219931Ensembl: ENSG00000162341.19HGNC: HGNC:20820UniProt: Q59G56
57PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
voltage-gated calcium channel activityvoltage-gated sodium channel activityNAADP-sensitive calcium-release channel activityintracellular calcium ion homeostasishair coloractinic keratosisskin canceroculocutaneous albinism type 6
✦AI Summary

TPCN2 encodes two-pore segment channel 2, a lysosomal Na+/Ca2+ ion channel that regulates intracellular calcium homeostasis and endosomal trafficking. The channel exhibits ligand-dependent selectivity, functioning as a NAADP-activated Ca2+ release channel or a PI(3,5)P2-activated Na+ channel depending on activation mode 1. TPCN2 is critical for coronavirus entry into host cells, with loss-of-function studies demonstrating its requirement for SARS-CoV, SARS-CoV-2, and HCoV-EMC endocytosis 2. Beyond viral pathogenesis, TPCN2 regulates autophagy progression and extracellular vesicle trafficking in cancer cells; overexpression inhibits autophagosome-lysosome fusion while knockdown enhances cell migration 3. TPCN2 dysfunction contributes to multiple diseases: it is downregulated in heart failure from both ischemic and dilated cardiomyopathy, implicating mitochondrial quality control defects 4, and genetic variants associate with aortic stenosis risk independent of coronary artery disease 5. In Parkinson's disease, the LRRK2 G2019S mutation exaggerates calcium entry through disrupted lysosomal TPC2 function, with selective TPC2 inhibition or biased agonism reversing pathological phenotypes 6. These findings establish TPCN2 as a multi-functional ion channel with therapeutic potential across infectious, cardiac, and neurological diseases.

Sources cited
1
TPC2 is a NAADP- and PI(3,5)P2-activated endolysosomal ion channel with ligand-dependent Ca2+/Na+ selectivity
PMID: 40197126
2
TPC2 is critical for SARS-CoV-2 and SARS-CoV entry via endocytosis
PMID: 32221306
3
TPC2 overexpression inhibits autophagosome-lysosome fusion and decreases extracellular vesicle secretion in cancer cells
PMID: 29990474
4
TPCN2 is downregulated in heart failure from ischemic and dilated cardiomyopathy
PMID: 37403271
5
TPCN2 variants associate with aortic stenosis risk independent of coronary artery disease
PMID: 39504041
6
TPC2 dysfunction in LRRK2 G2019S Parkinson's disease model disrupts dopaminergic neuronal function through perturbed calcium entry
PMID: 40279672
7
TPCs mediate disease through NAADP-regulated calcium release and are implicated in Parkinson's disease, fatty liver disease, Ebola infection, cancer, and cardiac dysfunction
PMID: 29746898
Disease Associationsβ“˜20
hair colorOpen Targets
0.55Moderate
actinic keratosisOpen Targets
0.48Moderate
skin cancerOpen Targets
0.48Moderate
oculocutaneous albinism type 6Open Targets
0.46Moderate
basal cell carcinomaOpen Targets
0.45Moderate
asthmaOpen Targets
0.44Moderate
systemic lupus erythematosusOpen Targets
0.44Moderate
skin diseaseOpen Targets
0.43Moderate
skin neoplasmOpen Targets
0.43Moderate
bone fractureOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.39Weak
duodenal ulcerOpen Targets
0.37Weak
cancerOpen Targets
0.35Weak
cutaneous melanomaOpen Targets
0.34Weak
Abnormality of skin pigmentationOpen Targets
0.34Weak
sunburnOpen Targets
0.33Weak
suntanOpen Targets
0.32Weak
non-melanoma skin carcinomaOpen Targets
0.32Weak
obesityOpen Targets
0.31Weak
glomerulonephritisOpen Targets
0.31Weak
Pathogenic Variants1
NM_139075.4(TPCN2):c.628C>T (p.Arg210Cys)Likely pathogenic
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10
β˜…β˜†β˜†β˜†2024β†’ Residue 210
View on ClinVar β†—
Related Genes
CD38Protein interaction92%NADSYN1Protein interaction92%SLC24A4Protein interaction92%SLC45A2Protein interaction80%OCA2Protein interaction79%MCOLN1Protein interaction77%
Tissue Expression6 tissues
Liver
100%
Ovary
78%
Lung
63%
Heart
37%
Bone Marrow
36%
Brain
9%
Gene Interaction Network
Click a node to explore
TPCN2CD38NADSYN1SLC24A4SLC45A2OCA2MCOLN1
PROTEIN STRUCTURE
Preparing viewer…
PDB8OUO Β· 3.00 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.69–0.98]
RankingsWhere TPCN2 stands among ~20K protein-coding genes
  • #8,024of 20,598
    Most Researched57
  • #5,061of 5,498
    Most Pathogenic Variants1
  • #9,305of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedTPCN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TPC2 mediates autophagy progression and extracellular vesicle secretion in cancer cells.
PMID: 29990474
Exp Cell Res Β· 2018
1.00
2
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease.
PMID: 39504041
JAMA Cardiol Β· 2025
0.90
3
Heart failure in patients is associated with downregulation of mitochondrial quality control genes.
PMID: 37403271
Eur J Clin Invest Β· 2023
0.80
4
TPCs: FROM PLANT TO HUMAN.
PMID: 40197126
Physiol Rev Β· 2025
0.70
5
Characterization of spike glycoprotein of SARS-CoV-2 on virus entry and its immune cross-reactivity with SARS-CoV.
PMID: 32221306
Nat Commun Β· 2020
0.60