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Tpcn2 two pore segment channel 2 [ Mus musculus (house mouse) ]

Gene ID: 233979, updated on 12-May-2024

Summary

Official Symbol
Tpcn2provided by MGI
Official Full Name
two pore segment channel 2provided by MGI
Primary source
MGI:MGI:2385297
See related
Ensembl:ENSMUSG00000048677 AllianceGenome:MGI:2385297
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm35086; D830047E22Rik
Summary
Enables NAADP-sensitive calcium-release channel activity and voltage-gated calcium channel activity. Involved in several processes, including endocytosis involved in viral entry into host cell; endosome to lysosome transport of low-density lipoprotein particle; and release of sequestered calcium ion into cytosol. Located in lysosomal membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in pigmentation disease. Orthologous to human TPCN2 (two pore segment channel 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 3.8), ovary adult (RPKM 3.7) and 28 other tissues See more
Orthologs
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Genomic context

Location:
7; 7 F5
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (144735370..144837743, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (145181633..145284011, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46023 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:152297325-152297512 Neighboring gene STARR-seq mESC enhancer starr_20563 Neighboring gene STARR-seq mESC enhancer starr_20566 Neighboring gene predicted gene 45181 Neighboring gene STARR-seq mESC enhancer starr_20567 Neighboring gene VISTA enhancer mm1497 Neighboring gene STARR-seq mESC enhancer starr_20570 Neighboring gene small integral membrane protein 38 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:152429156-152429339 Neighboring gene STARR-positive B cell enhancer ABC_E3765 Neighboring gene STARR-seq mESC enhancer starr_20571 Neighboring gene MAS-related GPR, member F Neighboring gene MAS-related GPR, member D

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC32411

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in calcium-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium-mediated signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in endocytosis involved in viral entry into host cell IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endocytosis involved in viral entry into host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocytosis involved in viral entry into host cell ISO
Inferred from Sequence Orthology
more info
 
involved_in endosome to lysosome transport of low-density lipoprotein particle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular calcium ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular pH reduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular pH reduction ISO
Inferred from Sequence Orthology
more info
 
involved_in lysosome organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of developmental pigmentation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of developmental pigmentation ISO
Inferred from Sequence Orthology
more info
 
involved_in receptor-mediated endocytosis of virus by host cell ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of autophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sodium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in endolysosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in endosome membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in melanosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
two pore channel protein 2
Names
two pore calcium channel protein 2
voltage-dependent calcium channel protein TPC2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_146206.6NP_666318.2  two pore channel protein 2

    See identical proteins and their annotated locations for NP_666318.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the protein.
    Source sequence(s)
    AC132081
    Consensus CDS
    CCDS40203.1
    UniProtKB/Swiss-Prot
    Q6NSV0, Q8BTJ7, Q8BWC0, Q8R396
    UniProtKB/TrEMBL
    B2RUK7
    Related
    ENSMUSP00000061308.5, ENSMUST00000058022.6
    Conserved Domains (1) summary
    pfam00520
    Location:103299
    Ion_trans; Ion transport protein

RNA

  1. NR_132642.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC132081
    Related
    ENSMUST00000208841.2
  2. NR_132643.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks six exons and contains four alternate exons in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC132081, AC151715
  3. NR_132644.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two exons and contains two alternate exons in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC132081, AC151715
    Related
    ENSMUST00000209047.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    144735370..144837743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153027.1XP_036008920.1  two pore channel protein 2 isoform X4

    UniProtKB/TrEMBL
    B2RUK7
    Conserved Domains (1) summary
    pfam00520
    Location:453690
    Ion_trans; Ion transport protein
  2. XM_006508614.4XP_006508677.1  two pore channel protein 2 isoform X3

    UniProtKB/TrEMBL
    B2RUK7
    Conserved Domains (1) summary
    pfam00520
    Location:414679
    Ion_trans; Ion transport protein
  3. XM_006508613.4XP_006508676.1  two pore channel protein 2 isoform X1

    UniProtKB/TrEMBL
    B2RUK7
    Conserved Domains (1) summary
    pfam00520
    Location:453718
    Ion_trans; Ion transport protein
  4. XM_017322226.2XP_017177715.1  two pore channel protein 2 isoform X5

    UniProtKB/TrEMBL
    Q80UQ1
    Conserved Domains (1) summary
    pfam00520
    Location:284549
    Ion_trans; Ion transport protein
  5. XM_030242540.1XP_030098400.1  two pore channel protein 2 isoform X7

    Conserved Domains (1) summary
    pfam00520
    Location:192457
    Ion_trans; Ion transport protein
  6. XM_006508618.4XP_006508681.1  two pore channel protein 2 isoform X10

    Conserved Domains (1) summary
    pfam00520
    Location:41306
    Ion_trans; Ion transport protein
  7. XM_036153026.1XP_036008919.1  two pore channel protein 2 isoform X2

    UniProtKB/TrEMBL
    B2RUK7
    Conserved Domains (1) summary
    pfam00520
    Location:453716
    Ion_trans; Ion transport protein
  8. XM_036153030.1XP_036008923.1  two pore channel protein 2 isoform X6

    UniProtKB/TrEMBL
    Q8BLY6
    Related
    ENSMUSP00000147178.2, ENSMUST00000208328.2
    Conserved Domains (1) summary
    pfam00520
    Location:68299
    Ion_trans; Ion transport protein
  9. XM_036153028.1XP_036008921.1  two pore channel protein 2 isoform X6

    UniProtKB/TrEMBL
    Q8BLY6
    Conserved Domains (1) summary
    pfam00520
    Location:68299
    Ion_trans; Ion transport protein
  10. XM_036153029.1XP_036008922.1  two pore channel protein 2 isoform X6

    UniProtKB/TrEMBL
    Q8BLY6
    Conserved Domains (1) summary
    pfam00520
    Location:68299
    Ion_trans; Ion transport protein
  11. XM_011241998.2XP_011240300.1  two pore channel protein 2 isoform X8

    Conserved Domains (1) summary
    pfam00520
    Location:68299
    Ion_trans; Ion transport protein
  12. XM_006508617.2XP_006508680.1  two pore channel protein 2 isoform X9

    Conserved Domains (1) summary
    pfam00520
    Location:68299
    Ion_trans; Ion transport protein

RNA

  1. XR_870039.4 RNA Sequence

  2. XR_870040.4 RNA Sequence

  3. XR_870046.1 RNA Sequence

  4. XR_870041.4 RNA Sequence

  5. XR_870038.4 RNA Sequence

  6. XR_870042.4 RNA Sequence

  7. XR_870043.4 RNA Sequence

  8. XR_001785546.1 RNA Sequence

  9. XR_001785545.1 RNA Sequence

  10. XR_001785544.1 RNA Sequence

  11. XR_003946469.1 RNA Sequence

  12. XR_001785542.1 RNA Sequence

  13. XR_001785543.1 RNA Sequence

  14. XR_003946470.1 RNA Sequence

  15. XR_003946473.1 RNA Sequence

  16. XR_004934095.1 RNA Sequence

  17. XR_004934094.1 RNA Sequence

  18. XR_004934093.1 RNA Sequence

  19. XR_004934092.1 RNA Sequence

  20. XR_004934096.1 RNA Sequence

  21. XR_004934091.1 RNA Sequence

  22. XR_004934090.1 RNA Sequence