MCOLN2 (mucolipin TRP cation channel 2)

2018-02-01  

Identity

HGNC
MCOLN2
LOCATION
1p22.3
LOCUSID
255231
ALIAS
TRP-ML2,TRPML2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 255231
MIM: 607399
HGNC: 13357
Ensembl: ENSG00000153898

Variants:

dbSNP: 255231
ClinVar: 255231
TCGA: ENSG00000153898
COSMIC: MCOLN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153898ENST00000284027Q8IZK6
ENSG00000153898ENST00000370608Q8IZK6
ENSG00000153898ENST00000463065G5EA24

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
166066122006Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.70
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
197636102009The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.26
198858402010Functional multimerization of mucolipin channel proteins.24
207363102010Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.24
227538902012Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.11
254452712015PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene.8
176620262007Mucolipin-2 localizes to the Arf6-associated pathway and regulates recycling of GPI-APs.0
199401392010Constitutive activity of the human TRPML2 channel induces cell degeneration.0
272484692016Overexpression of transient receptor potential mucolipin-2 ion channels in gliomas: role in tumor growth and progression.0

Citation

Dessen P

MCOLN2 (mucolipin TRP cation channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57328/mcoln2