MCOLN2

GENE INFORMATION

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Gene name

MCOLN2 (HGNC Symbol)

Synonyms

FLJ36691, TRP-ML2, TRPML2

Description

mucolipin 2 (HGNC Symbol)

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]

Chromosome

1 (Chromosome progress)

Cytoband

p22.3

Chromosome location (bp)

85391268 - 85462796

Ensembl

ENSG00000153898 (version 73.37)

Entrez gene

255231

UniProt

Q8IZK6 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8IZK6

Antibodypedia

MCOLN2 antibodies
 

PROTEIN VIEW

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MCOLN2-001
 
MCOLN2-002
 
MCOLN2-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MCOLN2-001 ENSP00000359640
ENST00000370608
Q8IZK6
Show all »
Show » Show » 566 65.9 No 5
MCOLN2-002 ENSP00000436299
ENST00000463065
G5EA24
Show all »
Show » 249 29.3 No 0
MCOLN2-005 ENSP00000284027
ENST00000284027
Q8IZK6
Show all »
Show » Show » 538 62.7 No 6