MCOLN2

Chr 1

mucolipin TRP cation channel 2

Also known as: TRP-ML2, TRPML2

NCBI Gene: 255231 ENSG00000153898 UniProt: Q8IZK6 OMIM: 607399

The MCOLN2 protein functions as a nonselective cation channel that regulates membrane trafficking events and plays roles in immune processes including chemokine secretion and macrophage migration. Unlike MCOLN1 mutations which cause mucolipidosis IV, no specific human diseases have been definitively linked to MCOLN2 mutations despite the gene being expressed and functionally characterized. The gene shows minimal constraint against loss-of-function variants (very low pLI), suggesting haploinsufficiency may be well-tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Mucolipins constitute a family of cation channel proteins with homology to the transient receptor potential superfamily. In mammals, the mucolipin family includes 3 members, MCOLN1 (MIM 605248), MCOLN2, and MCOLN3 (MIM 607400), that exhibit a common 6-membrane-spanning topology. Homologs of mammalian mucolipins exist in Drosophila and C. elegans. Mutations in the human MCOLN1 gene cause mucolipodosis IV (MIM 262650) (Karacsonyi et al., 2007 [PubMed 17662026]).[supplied by OMIM, Sep 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.19

LOEUF

Multiple*

Mechanism· predicted