Gene Gene information from NCBI Gene database.
Entrez ID 219931
Gene name Two pore segment channel 2
Gene symbol TPCN2
Synonyms (NCBI Gene)
SHEP10TPC2
Chromosome 11
Chromosome location 11q13.3
Summary 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.
287
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612163 20820 ENSG00000162341
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALBINISM GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Albinism Associate 38279271
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bicuspid Aortic Valve Disease Associate 36071494
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 36496446
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 36496446
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Associate 26918892
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 26918892
★☆☆☆☆
Found in Text Mining only
Heart Failure Stimulate 22701570
★☆☆☆☆
Found in Text Mining only
Infections Associate 36314791
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Associate 35194006
★☆☆☆☆
Found in Text Mining only
Lysosomal Storage Diseases Associate 35915060
★☆☆☆☆
Found in Text Mining only