{"symbol":"MCOLN2","synonyms":["TRPML2","TRP-ML2"],"name":"mucolipin 2","description":"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]","ncbiEntrezGeneId":255231,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/255231","proteins":[{"symbol":"MCLN2_HUMAN","href":"/api/1.0/protein/MCLN2_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}