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
350548712022Functional In Vitro Assessment of VEGFA/NOTCH2 Signaling Pathway and pRB Proteasomal Degradation and the Clinical Relevance of Mucolipin TRPML2 Overexpression in Glioblastoma Patients.4
350548712022Functional In Vitro Assessment of VEGFA/NOTCH2 Signaling Pathway and pRB Proteasomal Degradation and the Clinical Relevance of Mucolipin TRPML2 Overexpression in Glioblastoma Patients.4
345486382021Endolysosomal ion channel MCOLN2 (Mucolipin-2) promotes prostate cancer progression via IL-1β/NF-κB pathway.9
345486382021Endolysosomal ion channel MCOLN2 (Mucolipin-2) promotes prostate cancer progression via IL-1β/NF-κB pathway.9
311782222019Structure of the Human TRPML2 Ion Channel Extracytosolic/Lumenal Domain.8
311782222019Structure of the Human TRPML2 Ion Channel Extracytosolic/Lumenal Domain.8
293827352018Mucolipin-2 Cation Channel Increases Trafficking Efficiency of Endocytosed Viruses.25
293827352018Mucolipin-2 Cation Channel Increases Trafficking Efficiency of Endocytosed Viruses.25
272484692016Overexpression of transient receptor potential mucolipin-2 ion channels in gliomas: role in tumor growth and progression.36
272484692016Overexpression of transient receptor potential mucolipin-2 ion channels in gliomas: role in tumor growth and progression.36
254452712015PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene.14
254452712015PAX5 is the transcriptional activator of mucolipin-2 (MCOLN2) gene.14
227538902012Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.17
227538902012Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.17
198858402010Functional multimerization of mucolipin channel proteins.28

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-(mucolipin-trp-cation-channel-2)