MCOLN2 (Gene)

Synonyms:ENTREZ:255231, HGNC:13357, MCOLN2, MIM:607399, NM_001330647, NM_153259, NP_001317576, NP_694991, TRP-ML2, TRPML2, XM_005270719, XM_011541187, XM_011541188, XM_017000923, XP_005270776, XP_011539489, XP_011539490, XP_016856412, XR_001737090, XR_001737091, mucolipin TRP cation channel 2
Omim:OMIM:607399
Id:6bd1493f-ebe2-55c7-8d9c-ab9be66375a5
Hgnc:HGNC:13357
Entrez:255231
Description:mucolipin TRP cation channel 2
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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View MCOLN2's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with MCOLN2.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using MCOLN2.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for MCOLN2.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with MCOLN2.

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