TPCN2 (two pore segment channel 2)

2016-10-01  

Identity

HGNC
LOCATION
11q13.3
LOCUSID
ALIAS
SHEP10,TPC2
FUSION GENES

Other Information

Locus ID:

NCBI: 219931
MIM: 612163
HGNC: 20820
Ensembl: ENSG00000162341

Variants:

dbSNP: 219931
ClinVar: 219931
TCGA: ENSG00000162341
COSMIC: TPCN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162341ENST00000294309Q8NHX9
ENSG00000162341ENST00000542467E7ETX0
ENSG00000162341ENST00000635811A0A1B0GTM1
ENSG00000162341ENST00000637342A0A1B0GUM5
ENSG00000162341ENST00000637504A0A1B0GTM1

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
334650682021Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.9
338757692021Flavonoids increase melanin production and reduce proliferation, migration and invasion of melanoma cells by blocking endolysosomal/melanosomal TPC2.20
334650682021Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.9
338757692021Flavonoids increase melanin production and reduce proliferation, migration and invasion of melanoma cells by blocking endolysosomal/melanosomal TPC2.20
308604812019Structural mechanisms of phospholipid activation of the human TPC2 channel.53
308604812019Structural mechanisms of phospholipid activation of the human TPC2 channel.53
295631522018Adrenaline Stimulates Glucagon Secretion by Tpc2-Dependent Ca(2+) Mobilization From Acidic Stores in Pancreatic α-Cells.43
297059522018Phosphatidylinositol-3,5-bisphosphate lipid-binding-induced activation of the human two-pore channel 2.20
299904742018TPC2 mediates autophagy progression and extracellular vesicle secretion in cancer cells.21
295631522018Adrenaline Stimulates Glucagon Secretion by Tpc2-Dependent Ca(2+) Mobilization From Acidic Stores in Pancreatic α-Cells.43
297059522018Phosphatidylinositol-3,5-bisphosphate lipid-binding-induced activation of the human two-pore channel 2.20
299904742018TPC2 mediates autophagy progression and extracellular vesicle secretion in cancer cells.21
280963962017Tuning the ion selectivity of two-pore channels.57
289239472017TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.33
280963962017Tuning the ion selectivity of two-pore channels.57

Citation

Dessen P

TPCN2 (two pore segment channel 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56050/tpcn2-(two-pore-segment-channel-2)