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    Cpne8 copine VIII [ Mus musculus (house mouse) ]

    Gene ID: 66871, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Cpne8provided by MGI
    Official Full Name
    copine VIIIprovided by MGI
    Primary source
    MGI:MGI:1914121
    See related
    Ensembl:ENSMUSG00000052560 AllianceGenome:MGI:1914121
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1200003E11Rik; 1500031E20Rik
    Summary
    This gene encodes a member of the copine family of highly conserved, calcium-dependent phospholipid binding proteins. The encoded protein has two characteristic C2 domains and a VWFA domain and may play a role in membrane trafficking. A related pseudogene is found on chromosome 8. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in frontal lobe adult (RPKM 3.8), cortex adult (RPKM 2.8) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Cpne8 in Genome Data Viewer
    Location:
    15 E3; 15 45.21 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (90371684..90563591, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (90487481..90679388, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36480 Neighboring gene STARR-seq mESC enhancer starr_39480 Neighboring gene STARR-seq mESC enhancer starr_39481 Neighboring gene WEE1 homolog 2 pseudogene Neighboring gene mitochondrial ribosomal protein L30 pseudogene Neighboring gene STARR-seq mESC enhancer starr_39482 Neighboring gene STARR-seq mESC enhancer starr_39484 Neighboring gene predicted gene 3861 Neighboring gene ribosomal protein L31, pseudogene 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. Cloning, molecular characterization, and expression analysis of Copine 8. Maitra R, et al. Biochem Biophys Res Commun, 2003 Apr 11. PMID 12670487
    2. A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse. Lloyd SE, et al. Neurogenetics, 2010 May. PMID 19795140, Free PMC Article
    3. The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans. Creutz CE, et al. J Biol Chem, 1998 Jan 16. PMID 9430674
    4. The in vivo brain interactome of the amyloid precursor protein. Bai Y, et al. Mol Cell Proteomics, 2008 Jan. PMID 17934213
    5. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, et al. Mol Psychiatry, 2023 Apr. PMID 36604605, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results identify Cpne8, a member of the copine family, as the most promising candidate gene for prion disease incubation time.
      Title: A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse.
    2. characterization of the human ortholog, CPNE8.
      Title: Cloning, molecular characterization, and expression analysis of Copine 8.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    copine-8

    NCBI Reference Sequences (RefSeq)

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    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_001033851.1 → NP_001029023.1  copine-8 isoform 2

      See identical proteins and their annotated locations for NP_001029023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 5' coding region that leads to an early stop codon, compared to variant 1. The resulting protein (isoform 2) has a shorter, distinct C terminus, compared to isoform 1.
      Source sequence(s)
      BC048551, BC076564
      Consensus CDS
      CCDS27759.1
      UniProtKB/TrEMBL
      Q9DB19
      Related
      ENSMUSP00000014777.9, ENSMUST00000014777.9
      Conserved Domains (1) summary
      cl14603
      Location:37 → 75
      C2; C2 domain

    2. NM_001357979.1 → NP_001344908.1  copine-8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC099572, AC113493, AC116812
      UniProtKB/TrEMBL
      Q05D94
      Conserved Domains (2) summary
      cd04047
      Location:35 → 146
      C2B_Copine; C2 domain second repeat in Copine
      cd01459
      Location:156 → 412
      vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

    3. NM_025815.2 → NP_080091.1  copine-8 isoform 1

      See identical proteins and their annotated locations for NP_080091.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK004559, BB043122, BU846828
      Consensus CDS
      CCDS27758.1
      UniProtKB/Swiss-Prot
      B2RS65, Q9CUZ8, Q9DC53
      Related
      ENSMUSP00000067774.6, ENSMUST00000064391.12
      Conserved Domains (3) summary
      cd04047
      Location:171 → 282
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:37 → 158
      C2A_Copine; C2 domain first repeat in Copine
      cd01459
      Location:292 → 548
      vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      90371684..90563591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248705.1 → XP_030104565.1  copine-8 isoform X1

      UniProtKB/TrEMBL
      Q05D94
      Conserved Domains (2) summary
      cd04047
      Location:1 → 108
      C2B_Copine; C2 domain second repeat in Copine
      cd01459
      Location:118 → 374
      vWA_copine_like; VWA Copine: Copines are phospholipid-binding proteins originally identified in paramecium. They are found in human and orthologues have been found in C. elegans and Arabidopsis Thaliana. None have been found in D. Melanogaster or S. Cereviciae. ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DC53.3 GenPept UniProtKB/Swiss-Prot:Q9DC53

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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