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:0005245 Function Voltage-gated calcium channel activity ISS
GO:0005515 Function Protein binding IPI 21903581, 23394946, 24188827
GO:0005764 Component Lysosome IDA 22012985
GO:0005765 Component Lysosomal membrane IDA 19387438, 19620632
GO:0005765 Component Lysosomal membrane TAS
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29632382
Unknown
Disease term Disease name Evidence References Source
Albinism albinism GenCC
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Diabetes Diabetes GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
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