MCOLN2

GENERAL INFORMATION

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Gene name

MCOLN2

Gene description

Mucolipin 2

Protein class

Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (rectum)
GTEx:Group enriched (adrenal gland, colon, lung, small intestine, spleen, testis)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed weak to moderate cytoplasmic positivity. Subtypes of cells in testis showed strong nuclear stained.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA019114
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (rectum)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (adrenal gland, colon, lung, small intestine, spleen, testis)

Organ

Expression



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

Cytoband

p22.3

Chromosome location (bp)

84925583 - 84997113

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000153898 (version 78.38)

Entrez gene

255231

UniProt

Q8IZK6 (UniProt - Evidence at transcript level)

neXtProt

NX_Q8IZK6

Antibodypedia

MCOLN2 antibodies


PROTEIN BROWSER

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ENST00000284027
 
ENST00000370608
 
 
 
 


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
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Show » Show » 566 65.9 No 5
MCOLN2-005 ENSP00000284027
ENST00000284027
Q8IZK6
Show all »
Show » Show » 538 62.7 No 6