Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
219931
Gene name Gene Name - the full gene name approved by the HGNC.
Two pore segment channel 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPCN2
Synonyms (NCBI Gene) Gene synonyms aliases
SHEP10, TPC2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lyso
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022968 hsa-miR-124-3p Microarray 18668037
MIRT719062 hsa-miR-377-5p HITS-CLIP 19536157
MIRT719061 hsa-miR-6086 HITS-CLIP 19536157
MIRT711260 hsa-miR-3689a-5p HITS-CLIP 19536157
MIRT711259 hsa-miR-3689b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005245 Function Voltage-gated calcium channel activity IDA 23063126
GO:0005245 Function Voltage-gated calcium channel activity ISS
GO:0005248 Function Voltage-gated sodium channel activity IDA 24776928
GO:0005262 Function Calcium channel activity IDA 27140606
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612163 20820 ENSG00000162341
Protein
UniProt ID Q8NHX9
Protein name Two pore channel protein 2 (Two pore calcium channel protein 2)
Protein function Intracellular channel initially characterized as a non-selective Ca(2+)-permeable channel activated by NAADP (nicotinic acid adenine dinucleotide phosphate), it is also a highly-selective Na(+) channel activated directly by PI(3,5)P2 (phosphatid
PDB 6NQ0 , 6NQ1 , 6NQ2 , 8OUO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 84 318 Ion transport protein Family
PF00520 Ion_trans 431 699 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at high level in liver and kidney. {ECO:0000269|PubMed:19387438}.
Sequence
Sequence length 752
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Calcium signaling pathway
Pancreatic secretion
  Stimuli-sensing channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Albinism albinism N/A N/A GenCC
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes (adjusted for BMI), Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes N/A N/A GWAS
Duodenal Ulcer Duodenal ulcer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 38279271
Bicuspid Aortic Valve Disease Associate 36071494
Carcinoma Basal Cell Associate 36496446
Carcinoma Squamous Cell Associate 36496446
Diabetes Mellitus Associate 26918892
Diabetes Mellitus Type 2 Associate 26918892
Heart Failure Stimulate 22701570
Infections Associate 36314791
Lupus Erythematosus Systemic Associate 35194006
Lysosomal Storage Diseases Associate 35915060