Homo sapiens Gene: TPCN2
Summary
InnateDB Gene IDBG-61770.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TPCN2
Gene Name two pore segment channel 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000162341
Encoded Proteins
two pore segment channel 2
two pore segment channel 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:69048897-69090604
Strand Forward strand
Band q13.3
Transcripts
ENST00000294309 ENSP00000294309
ENST00000442692
ENST00000535009
ENST00000542467 ENSP00000445551
ENST00000534832
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0042802 identical protein binding
GO:0072345 NAADP-sensitive calcium-release channel activity
Biological Process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006939 smooth muscle contraction
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0051209 release of sequestered calcium ion into cytosol
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0086010 membrane depolarization during action potential
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Stimuli-sensing channels pathway
Ion channel transport pathway
KEGG
Pancreatic secretion pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_139075 XM_005273824 XM_005273828 XM_006718454 XM_006718456
HUGO
OMIM
CCDS CCDS8189
HPRD 18218
IMGT
EMBL
GenPept
RNA Seq Atlas