MCOLN2

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]

Description

Mucolipin 2

Tissue specificity

Tissue enhanced (intestine, lymphoid tissue)

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Chromosome

1 (84925583 - 84997113)

Ensembl ID

ENSG00000153898  (ver. 103.38)

Orthologs

Mouse Mcoln2: ENSMUSG00000011008

UniProt

Q8IZK6

neXtProt

NX_Q8IZK6

Human splice variants
Mouse splice variants

Protein structure