Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TPCN2 Gene

Aliases for TPCN2 Gene

  • Two Pore Segment Channel 2 2 3 5
  • Voltage-Dependent Calcium Channel Protein TPC2 3 4
  • TPC2 3 4
  • Two-Pore Calcium Channel Protein 2 3
  • SHEP10 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Pancreatic secretion. GO annotations related to this gene include identical protein binding and ion 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

Promoters for TPCN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TPCN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TPCN2 Gene

Chromosome:
11
Start:
69,048,882 bp from pter
End:
69,160,413 bp from pter
Size:
111,532 bases
Orientation:
Plus strand

Genomic View for TPCN2 Gene

Genes around TPCN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPCN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q8NHX9-TPC2_HUMAN
    Recommended name:
    Two pore calcium channel protein 2
    Protein Accession:
    Q8NHX9
    Secondary Accessions:
    • Q9NT82

    Protein attributes for TPCN2 Gene

    Size:
    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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TPCN2 Gene

Domains & Families for TPCN2 Gene

Gene Families for TPCN2 Gene

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

UniProtKB/Swiss-Prot:

TPC2_HUMAN :
  • 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.
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).
Family:
  • 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.
genes like me logo Genes that share phenotypes with TPCN2: view

Animal Models for TPCN2 Gene

MGI Knock Outs for TPCN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TPCN2

miRNA for TPCN2 Gene

miRTarBase miRNAs that target TPCN2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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

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

Gene Ontology (GO) - Cellular Components for TPCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TPCN2: view

Pathways & Interactions 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:0006939 smooth muscle contraction IEA,ISS --
GO:0010506 regulation of autophagy IGI 22012985
GO:0019722 calcium-mediated signaling IGI 25416817
GO:0051209 release of sequestered calcium ion into cytosol IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with TPCN2: view

No data available for SIGNOR curated interactions for TPCN2 Gene

Drugs & Compounds for TPCN2 Gene

(1) Drugs for TPCN2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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:

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: - - - - - -
SP4:
SP5: - - -
SP6: - - -
SP7:
SP8:

ExUns: 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1: -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for TPCN2 Gene

GeneLoc Exon Structure for
TPCN2
ECgene alternative splicing isoforms for
TPCN2

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 from HIPED for TPCN2 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q8NHX9-TPC2_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in liver and kidney.
genes like me logo Genes that share expression patterns with TPCN2: view

Protein tissue co-expression partners for TPCN2 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia TPCN2 35
  • 83.2 (n)
  • 78.67 (a)
TPCN2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPCN2 35
  • 84.82 (n)
  • 83.09 (a)
TPCN2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpcn2 35
  • 79.78 (n)
  • 75.31 (a)
Tpcn2 16
Tpcn2 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPCN2 35
  • 97.7 (n)
  • 96.91 (a)
TPCN2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpcn2 35
  • 79.62 (n)
  • 76.01 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TPCN2 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPCN2 35
  • 68.54 (n)
  • 68.26 (a)
TPCN2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPCN2 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tpcn2 35
  • 66.15 (n)
  • 64.02 (a)
zebrafish
(Danio rerio)
Actinopterygii tpcn2 35
  • 61.14 (n)
  • 58.91 (a)
tpcn2 36
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
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

ENSEMBL:
Gene Tree for TPCN2 (if available)
TreeFam:
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

Q8NHX9-TPC2_HUMAN
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
rs3750965 - 69,072,692(+) CCACA(A/G)ACAGG nc-transcript-variant, reference, missense
rs2376558 - 69,083,946(+) TCAGC(C/T)GATGG intron-variant, nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, missense
rs3829241 - 69,087,895(+) GCCCG(A/G)GGAGG intron-variant, nc-transcript-variant, reference, missense
rs35264875 - 69,078,931(+) TGGAG(A/C/T)TGCTG nc-transcript-variant, reference, missense
rs16761 -- 69,127,523(+) GCAAA(A/G)AACAT 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

Variation tolerance for TPCN2 Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.96; 87.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPCN2 Gene

HapMap Linkage Disequilibrium report
TPCN2
Human Gene Mutation Database (HGMD)
TPCN2

Disorders for TPCN2 Gene

Relevant External Links for TPCN2

Genetic Association Database (GAD)
TPCN2
Human Genome Epidemiology (HuGE) Navigator
TPCN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPCN2

No disorders were found for TPCN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TPCN2 Gene

Publications for TPCN2 Gene

  1. Two newly identified genetic determinants of pigmentation in Europeans. (PMID: 18488028) Sulem P. … Stefansson K. (Nat. Genet. 2008) 3 4 48 67
  2. Essential requirement for two-pore channel 1 in NAADP-mediated calcium signaling. (PMID: 19620632) Brailoiu E. … Patel S. (J. Cell Biol. 2009) 3 23
  3. 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
  4. Dysregulation of lysosomal morphology by pathogenic LRRK2 is corrected by TPC2 inhibition. (PMID: 25416817) Hockey L.N. … Patel S. (J. Cell. Sci. 2015) 3
  5. Organelle-specific subunit interactions of the vertebrate two-pore channel family. (PMID: 25451935) Ogunbayo O.A. … Evans A.M. (J. Biol. Chem. 2015) 3

Products for TPCN2 Gene

Sources for TPCN2 Gene

Back to Top

Content