DISEASES

Disease-gene associations mined from literature

Literature on MCOLN2

MCOLN2 [ENSP00000359640]

Mucolipin-2; Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:19940139, PubMed:19885840). May activate ARF6 and be involved in the trafficking of GPI-anchored cargo proteins to the cell surface via the ARF6- regulated recycling pathway . May play a role in immune processes. In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). In the innate immune response, may play a role in the regulation of chemokine secretion and macrophage migration (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events . ; Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN2 sub-subfamily.

Synonyms:  MCOLN2,  MCOLN2p,  hMCOLN2,  G5EA24,  Q8IZK6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM