TPCN2 (two pore segment channel 2)

2016-10-01  

Identity

HGNC
TPCN2
LOCATION
11q13.3
LOCUSID
219931
ALIAS
SHEP10,TPC2
FUSION GENES
Show Gene Fusions

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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
257224122015Ebola virus. Two-pore channels control Ebola virus host cell entry and are drug targets for disease treatment.138
184880282008Two newly identified genetic determinants of pigmentation in Europeans.115
184880282008Two newly identified genetic determinants of pigmentation in Europeans.115
207200072010TPC2 is a novel NAADP-sensitive Ca2+ release channel, operating as a dual sensor of luminal pH and Ca2+.87
245029752014Convergent regulation of the lysosomal two-pore channel-2 by Mg²⁺, NAADP, PI(3,5)P₂ and multiple protein kinases.75
254168172015Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibition.64
204950062010Characterization of two-pore channel 2 (TPCN2)-mediated Ca2+ currents in isolated lysosomes.52
261526962015Function and dysfunction of two-pore channels.49
251571412014The Two-pore channel (TPC) interactome unmasks isoform-specific roles for TPCs in endolysosomal morphology and cell pigmentation.44
253318922014VEGF-induced neoangiogenesis is mediated by NAADP and two-pore channel-2-dependent Ca2+ signaling.42

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