ID:TPC2_HUMAN DESCRIPTION: RecName: Full=Two pore calcium channel protein 2; AltName: Full=Voltage-dependent calcium channel protein TPC2; FUNCTION: Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. May be involved in smooth muscle contraction. SUBUNIT: Homodimer (By similarity). Interacts with LRRK2. INTERACTION: Self; NbExp=4; IntAct=EBI-5239949, EBI-5239949; Q9ULQ1:TPCN1; NbExp=9; IntAct=EBI-5239949, EBI-5239895; SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein (By similarity). Note=Only the acidic lysosomal fraction is sensitive to NAADP (By similarity). TISSUE SPECIFICITY: Widely expressed. Expressed at high level in liver and kidney. DOMAIN: Each of the two internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position (By similarity). PTM: N-glycosylated (By similarity). POLYMORPHISM: Genetic variants in TPCN2 define the skin/hair/eye pigmentation variation locus 10 (SHEP10) [MIM:612267]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NHX9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005216 ion channel activity GO:0005244 voltage-gated ion channel activity GO:0005245 voltage-gated calcium channel activity GO:0005262 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:0007040 lysosome organization GO:0010506 regulation of autophagy GO:0019722 calcium-mediated signaling GO:0033280 response to vitamin D 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
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
