Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    TPCN2 two pore segment channel 2 [ Homo sapiens (human) ]

    Gene ID: 219931, updated on 27-Jun-2015
    Official Symbol
    TPCN2provided by HGNC
    Official Full Name
    two pore segment channel 2provided by HGNC
    Primary source
    HGNC:HGNC:20820
    See related
    Ensembl:ENSG00000162341; HPRD:18218; MIM:612163; Vega:OTTHUMG00000167898
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TPC2; SHEP10
    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]
    Orthologs
    See TPCN2 in Epigenomics, MapViewer
    Location:
    11q13.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (69048882..69160413)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (68816350..68858072)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MRGPRF antisense RNA 1 Neighboring gene MAS-related GPR, member F Neighboring gene uncharacterized LOC105369365 Neighboring gene microRNA 3164 Neighboring gene uncharacterized LOC338694 Neighboring gene uncharacterized LOC105369366 Neighboring gene uncharacterized LOC105369367

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Skin/hair/eye pigmentation, variation in, 10
    MedGen: C2677088 OMIM: 612267 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Two newly identified genetic determinants of pigmentation in Europeans.
    NHGRI GWA Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    NHGRI GWA Catalog
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Markers

    Homology

    Clone Names

    • FLJ41094

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NAADP-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium-mediated signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    lysosome organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    two pore calcium channel protein 2
    Names
    two pore calcium channel protein 2
    two-pore calcium channel protein 2
    voltage-dependent calcium channel protein TPC2

    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.

    Genomic

    1. NG_016153.1 RefSeqGene

      Range
      5001..46723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139075.3NP_620714.2  two pore calcium channel protein 2

      See identical proteins and their annotated locations for NP_620714.2

      Status: REVIEWED

      Source sequence(s)
      AB209253, AP003071, AW177543, BC063008, BP380645, CD636711
      Consensus CDS
      CCDS8189.1
      UniProtKB/TrEMBL
      Q59G56
      UniProtKB/Swiss-Prot
      Q8NHX9
      Conserved Domains (1) summary
      pfam00520
      Location:471693
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

      Range
      69048882..69160413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718453.2XP_006718516.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    2. XM_006718454.2XP_006718517.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    3. XM_005273824.2XP_005273881.1  

      Related
      ENSP00000294309, OTTHUMP00000237209, ENST00000294309, OTTHUMT00000396878
      Conserved Domains (1) summary
      pfam00520
      Location:470692
      Ion_trans; Ion transport protein
    4. XM_011544803.1XP_011543105.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    5. XM_005273827.2XP_005273884.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    6. XM_005273828.2XP_005273885.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    7. XM_011544804.1XP_011543106.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    8. XM_011544806.1XP_011543108.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    9. XM_011544805.1XP_011543107.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    10. XM_006718456.2XP_006718519.1  

      Conserved Domains (1) summary
      pfam00520
      Location:184311
      Ion_trans; Ion transport protein
    11. XM_011544802.1XP_011543104.1  

      Conserved Domains (1) summary
      pfam00520
      Location:391613
      Ion_trans; Ion transport protein
    12. XM_005273832.2XP_005273889.1  

      Conserved Domains (1) summary
      pfam00520
      Location:230452
      Ion_trans; Ion transport protein
    13. XM_005273831.2XP_005273888.1  

      See identical proteins and their annotated locations for XP_005273888.1

      Conserved Domains (1) summary
      pfam00520
      Location:240462
      Ion_trans; Ion transport protein
    14. XM_011544808.1XP_011543110.1  

      Conserved Domains (1) summary
      pfam00520
      Location:194416
      Ion_trans; Ion transport protein
    15. XM_005273826.2XP_005273883.1  

      Conserved Domains (1) summary
      pfam00520
      Location:386608
      Ion_trans; Ion transport protein
    16. XM_005273830.2XP_005273887.1  

      See identical proteins and their annotated locations for XP_005273887.1

      Conserved Domains (1) summary
      pfam00520
      Location:240462
      Ion_trans; Ion transport protein
    17. XM_011544807.1XP_011543109.1  

      Conserved Domains (1) summary
      pfam00520
      Location:239461
      Ion_trans; Ion transport protein

    RNA

    1. XR_247191.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      68700007..68741850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)