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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Stimuli-sensing channels pathway
Ion channel transport pathway
TRP channels pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL G5EA24
UniProt Splice Variant
Entrez Gene 255231
UniGene Hs.459526 Hs.591446
RefSeq NM_153259 XM_005270719 XM_006710552
HUGO HGNC:13357
OMIM 607399
CCDS CCDS30762
HPRD 09584
IMGT
EMBL AL139150 AL358789 CH471097
GenPept EAW73219
RNA Seq Atlas 255231