Homo sapiens Gene: MCOLN2
Summary
InnateDB Gene IDBG-100003.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCOLN2
Gene Name mucolipin 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000153898
Encoded Proteins
mucolipin 2
mucolipin 2
mucolipin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:84925583-84997113
Strand Reverse strand
Band p22.3
Transcripts
ENST00000370608 ENSP00000359640
ENST00000284027 ENSP00000284027
ENST00000463065 ENSP00000436299
ENST00000530971
ENST00000531325
ENST00000531874
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Stimuli-sensing channels pathway
Transmembrane transport of small molecules pathway
Ion channel transport pathway
TRP channels pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.459526 Hs.591446
RefSeq NM_153259 XM_005270719 XM_006710552
HUGO
OMIM
CCDS CCDS30762
HPRD 09584
IMGT
EMBL
GenPept
RNA Seq Atlas