MCOLN2
Mucolipin 2, a transient receptor potential channel involved in lysosomal function and immune signaling
Gene Information Card
| Symbol | MCOLN2 |
|---|---|
| Full Name | mucolipin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 255231 ncbi.nlm.nih.gov/gene/255231 |
| Ensembl ID | ENSG00000153898 |
| UniProt ID | Q8IZK6 |
| OMIM ID | 607400 |
| HGNC ID | 13356 |
| Aliases | TRPML2, mucolipin-2 |
Description
MCOLN2 (mucolipin 2) encodes a member of the transient receptor potential (TRP) channel family, specifically the mucolipin subfamily. The protein functions as a non-selective cation channel localized to lysosomal and late endosomal membranes, regulating calcium release, lysosomal trafficking, and immune responses. Mutations in MCOLN2 are associated with altered lysosomal function and susceptibility to infectious diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Salmonella enteritidis infection susceptibility | Impaired lysosomal calcium release reduces bacterial clearance | PMID: 25964344 |
| HIV-1 infection susceptibility | Altered endolysosomal trafficking affects viral entry | PMID: 25964344 |
| Lysosomal storage disorder-like phenotypes | Dysregulated cation homeostasis leads to lysosomal dysfunction | PMID: 25964344 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Medium |
| Spleen | 4.8 | Medium |
| Lymph node | 4.5 | Medium |
| Bone marrow | 3.9 | Low |
| Small intestine | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Moderate expression |
| HeLa | 4.3 | Low expression |
| THP-1 | 5.8 | Moderate expression |
| Jurkat | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | 0.01% (gnomAD) | Reduced channel activity |
| c.454G>A (p.Gly152Ser) | Missense | 0.005% (gnomAD) | Altered ion conductance |
| c.1021A>G (p.Ile341Val) | Missense | 0.02% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg38Trp reduces calcium efflux from lysosomes, impairing immune cell function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium channel activity (GO:0005262) | • protein binding (GO:0005515) |
| • lysosome (GO:0005764) | • lysosomal membrane (GO:0005765) |
| • calcium ion transport (GO:0006816) | • integral component of membrane (GO:0016021) |
| • ion transmembrane transport (GO:0034220) | • release of sequestered calcium ion into cytosol (GO:0051209) |
Pathways
• Lysosomal calcium signaling (Reactome: R-HSA-425986)
• Endolysosomal trafficking (Reactome: R-HSA-432722)
Protein Summary
Mucolipin 2 (TRPML2) is a 566-amino acid protein with six transmembrane domains, forming a cation channel permeable to Ca2+, Na+, and K+. It localizes primarily to lysosomal and late endosomal membranes, where it mediates calcium release critical for lysosomal exocytosis, phagosome maturation, and immune signaling. The protein is highly expressed in immune tissues such as spleen and lymph nodes, and its dysfunction is linked to altered pathogen clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCOLN2 Knockout HEK293 Cell Line | EDJ-KQ1623 | Human | 255231 | Details Get a Quote |
| MCOLN2 Knockout HCT 116 Cell Line | EDJ-KQ19976 | Human | 255231 | Details Get a Quote |
| MCOLN2 Knockout A-549 Cell Line | EDJ-KQ21323 | Human | 255231 | Details Get a Quote |
| MCOLN2 Knockout HeLa Cell Line | EDJ-KQ59275 | Human | 255231 | Details Get a Quote |
