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Aliases for TPCN2 Gene

Aliases for TPCN2 Gene

  • Two Pore Segment Channel 2 2 3
  • TPC2 3 4 6
  • Voltage-Dependent Calcium Channel Protein TPC2 3 4
  • SHEP10 3 6
  • Two Pore Calcium Channel Protein 2 3
  • Two-Pore Calcium Channel Protein 2 3

External Ids for TPCN2 Gene

Previous GeneCards Identifiers for TPCN2 Gene

  • GC11P068591
  • GC11P068572
  • GC11P068816
  • GC11P065155

Summaries for TPCN2 Gene

Entrez Gene Summary for TPCN2 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 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]

GeneCards Summary for TPCN2 Gene

TPCN2 (Two Pore Segment Channel 2) is a Protein Coding gene. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include identical protein binding and voltage-gated calcium channel activity. An important paralog of this gene is TPCN1.

UniProtKB/Swiss-Prot for TPCN2 Gene

  • 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.

Gene Wiki entry for TPCN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPCN2 Gene

Genomics for TPCN2 Gene

Regulatory Elements for TPCN2 Gene

Genomic Location for TPCN2 Gene

69,048,882 bp from pter
69,136,059 bp from pter
87,178 bases
Plus strand

Genomic View for TPCN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPCN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPCN2 Gene

Proteins for TPCN2 Gene

  • Protein details for TPCN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Two pore calcium channel protein 2
    Protein Accession:
    Secondary Accessions:
    • Q9NT82

    Protein attributes for TPCN2 Gene

    752 amino acids
    Molecular mass:
    85243 Da
    Quaternary structure:
    • Homodimer (By similarity). Interacts with LRRK2.

neXtProt entry for TPCN2 Gene

Proteomics data for TPCN2 Gene at MOPED

Post-translational modifications for TPCN2 Gene

Other Protein References for TPCN2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TPCN2 Gene

Domains for TPCN2 Gene

Gene Families for TPCN2 Gene

  • TPCN :Voltage-gated ion channels / Two-pore channels

Protein Domains for TPCN2 Gene

Suggested Antigen Peptide Sequences for TPCN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q8NHX9
  • 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).
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. Two pore calcium channel subfamily.
genes like me logo Genes that share domains with TPCN2: view

Function for TPCN2 Gene

Molecular function for TPCN2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TPCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005245 voltage-gated calcium channel activity ISS --
GO:0005515 protein binding IPI 21903581
GO:0019901 protein kinase binding IPI 22012985
GO:0042802 identical protein binding IPI 21903581
genes like me logo Genes that share ontologies with TPCN2: view
genes like me logo Genes that share phenotypes with TPCN2: view

Animal Models for TPCN2 Gene

MGI Knock Outs for TPCN2:

Animal Model Products

miRNA for TPCN2 Gene

miRTarBase miRNAs that target TPCN2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TPCN2 Gene

Localization for TPCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPCN2 Gene

Lysosome membrane; Multi-pass membrane protein. Note=Only the acidic lysosomal fraction is sensitive to NAADP. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for TPCN2 Gene COMPARTMENTS Subcellular localization image for TPCN2 gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for TPCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane IBA --
GO:0010008 endosome membrane IDA 19620632
GO:0016020 membrane --
genes like me logo Genes that share ontologies with TPCN2: view

Pathways for TPCN2 Gene

genes like me logo Genes that share pathways with TPCN2: view

Pathways by source for TPCN2 Gene

Gene Ontology (GO) - Biological Process for TPCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006816 calcium ion transport IBA --
GO:0006874 cellular calcium ion homeostasis IDA 19387438
GO:0006939 smooth muscle contraction ISS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with TPCN2: view

Compounds for TPCN2 Gene

(1) HMDB Compounds for TPCN2 Gene

Compound Synonyms Cas Number PubMed IDs
  • Ca
genes like me logo Genes that share compounds with TPCN2: view

Transcripts for TPCN2 Gene

Unigene Clusters for TPCN2 Gene

Two pore segment channel 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPCN2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPCN2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - -
SP2: - - - - -
SP3: - - - - - -
SP5: - - -
SP6: - - -

ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1: -
SP2: - - -

Relevant External Links for TPCN2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TPCN2 Gene

mRNA expression in normal human tissues for TPCN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for TPCN2 Gene

This gene is overexpressed in Prostate (48.2), Monocytes (11.6), and Stomach (9.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TPCN2 Gene

SOURCE GeneReport for Unigene cluster for TPCN2 Gene Hs.131851

mRNA Expression by UniProt/SwissProt for TPCN2 Gene

Tissue specificity: Widely expressed. Expressed at high level in liver and kidney.
genes like me logo Genes that share expressions with TPCN2: view

Expression partners for TPCN2 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for TPCN2 Gene

Orthologs for TPCN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPCN2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TPCN2 35
  • 83.2 (n)
  • 78.67 (a)
TPCN2 36
  • 78 (a)
(Canis familiaris)
Mammalia TPCN2 35
  • 84.82 (n)
  • 83.09 (a)
TPCN2 36
  • 83 (a)
(Mus musculus)
Mammalia Tpcn2 35
  • 79.78 (n)
  • 75.31 (a)
Tpcn2 16
Tpcn2 36
  • 73 (a)
(Pan troglodytes)
Mammalia TPCN2 35
  • 97.7 (n)
  • 96.91 (a)
TPCN2 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Tpcn2 35
  • 79.62 (n)
  • 76.01 (a)
(Ornithorhynchus anatinus)
Mammalia TPCN2 36
  • 70 (a)
(Gallus gallus)
Aves TPCN2 35
  • 68.54 (n)
  • 68.26 (a)
TPCN2 36
  • 63 (a)
(Anolis carolinensis)
Reptilia TPCN2 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tpcn2 35
  • 66.15 (n)
  • 64.02 (a)
(Danio rerio)
Actinopterygii tpcn2 35
  • 61.14 (n)
  • 58.91 (a)
tpcn2 36
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
Species with no ortholog for TPCN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TPCN2 Gene

Gene Tree for TPCN2 (if available)
Gene Tree for TPCN2 (if available)

Paralogs for TPCN2 Gene

Paralogs for TPCN2 Gene

genes like me logo Genes that share paralogs with TPCN2: view

Variants for TPCN2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TPCN2 Gene

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

Sequence variations from dbSNP and Humsavar for TPCN2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs3376 -- 69,089,212(-) ATGAC(C/T)TTCTC utr-variant-3-prime, intron-variant
rs16761 -- 69,127,523(+) GCAAA(A/G)AACAT intron-variant
rs731974 -- 69,079,688(+) CAACC(C/T)GTGGG intron-variant, downstream-variant-500B
rs753559 -- 69,084,137(-) CTGCC(A/G)TCCGA intron-variant, downstream-variant-500B
rs754640 -- 69,059,064(+) GCTCC(A/G)CGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TPCN2 Gene

Variant ID Type Subtype PubMed ID
nsv832196 CNV Loss 17160897
nsv468619 CNV Loss 19166990
nsv825970 CNV Gain 20364138
nsv469967 CNV Loss 18288195
nsv468620 CNV Loss 19166990
dgv1212n71 CNV Loss 21882294
dgv226n67 CNV Gain 20364138
esv1002444 CNV Insertion 20482838
esv1755381 CNV Insertion 17803354
esv22030 CNV Loss 19812545
esv1613113 CNV Insertion 17803354
esv998682 CNV Deletion 20482838
esv2744672 CNV Deletion 23290073
esv2741565 CNV Deletion 23290073
esv26530 CNV Loss 19812545
esv2744673 CNV Deletion 23290073
esv1356674 CNV Insertion 17803354
esv1661230 CNV Insertion 17803354
esv1163200 CNV Insertion 17803354
esv2744675 CNV Deletion 23290073
esv1429725 CNV Deletion 17803354
esv2744676 CNV Deletion 23290073
esv2743408 CNV Deletion 23290073
esv2744677 CNV Deletion 23290073
esv1281432 CNV Insertion 17803354
esv2744678 CNV Deletion 23290073
nsv521595 CNV Gain 19592680
esv2744679 CNV Deletion 23290073

Relevant External Links for TPCN2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for TPCN2 Gene

(1) OMIM Diseases for TPCN2 Gene (612163)

Relevant External Links for TPCN2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for TPCN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for TPCN2 Gene

Publications for TPCN2 Gene

  1. Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling. (PMID: 19620632) Brailoiu E. … Patel S. (J. Cell Biol. 2009) 3 4 23
  2. Two newly identified genetic determinants of pigmentation in Europeans. (PMID: 18488028) Sulem P. … Stefansson K. (Nat. Genet. 2008) 3 4 48
  3. NAADP mobilizes calcium from acidic organelles through two-pore channels. (PMID: 19387438) Calcraft P.J. … Zhu M.X. (Nature 2009) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. International Union of Pharmacology. L. Nomenclature and structure-function relationships of CatSper and two-pore channels. (PMID: 16382101) Clapham D.E. … Garbers D.L. (Pharmacol. Rev. 2005) 2 3

Products for TPCN2 Gene

Sources for TPCN2 Gene

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