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    CPNE8 copine 8 [ Homo sapiens (human) ]

    Gene ID: 144402, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CPNE8provided by HGNC
    Official Full Name
    copine 8provided by HGNC
    Primary source
    HGNC:HGNC:23498
    See related
    Ensembl:ENSG00000139117 AllianceGenome:HGNC:23498
    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
    Summary
    Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 2.0), placenta (RPKM 2.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPNE8 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (38652203..38906835, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (38601932..38855989, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (39046005..39299393, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:38709647-38710846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6195 Neighboring gene ALG10 alpha-1,2-glucosyltransferase B Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:38778512-38779711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:38902019-38902518 Neighboring gene Sharpr-MPRA regulatory region 819 Neighboring gene uncharacterized LOC124902917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:39193759-39194354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4346 Neighboring gene CPNE8 antisense RNA 1 Neighboring gene sucrase-isomaltase (alpha-glucosidase) pseudogene Neighboring gene uncharacterized LOC107984484

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Fusion of AML1/Runx1 to copine VIII, a novel member of the copine family, in an aggressive acute myelogenous leukemia with t(12;21) translocation. Ramsey H, et al. Leukemia, 2003 Aug. PMID 12886257
    2. CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment. Zhang P, et al. Int J Biol Sci, 2022. PMID 35982908, Free PMC Article
    3. Cloning, molecular characterization, and expression analysis of Copine 8. Maitra R, et al. Biochem Biophys Res Commun, 2003 Apr 11. PMID 12670487
    4. Biochemical characterization of copine: a ubiquitous Ca2+-dependent, phospholipid-binding protein. Tomsig JL, et al. Biochemistry, 2000 Dec 26. PMID 11123945
    5. 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

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment.
      Title: CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129645, MGC129646

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to calcium ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    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
    Names
    copine VIII

    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_153634.3 → NP_705898.1  copine-8

      See identical proteins and their annotated locations for NP_705898.1

      Status: REVIEWED

      Source sequence(s)
      AK094998, BC046366, BX538055, R51494
      Consensus CDS
      CCDS8733.1
      UniProtKB/Swiss-Prot
      Q2TB41, Q86VY2, Q86YQ8
      UniProtKB/TrEMBL
      E7ENV7
      Related
      ENSP00000329748.5, ENST00000331366.10
      Conserved Domains (3) summary
      cd04047
      Location:158 → 269
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:24 → 145
      C2A_Copine; C2 domain first repeat in Copine
      cd01459
      Location:279 → 535
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      38652203..38906835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018852.2 → XP_016874341.1  copine-8 isoform X2

      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. ...

    2. XM_047428345.1 → XP_047284301.1  copine-8 isoform X1

    3. XM_011537951.4 → XP_011536253.1  copine-8 isoform X3

      Conserved Domains (3) summary
      cd04047
      Location:158 → 269
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:24 → 145
      C2A_Copine; C2 domain first repeat in Copine
      cl00057
      Location:279 → 379
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    4. XM_011537952.4 → XP_011536254.1  copine-8 isoform X4

      Conserved Domains (3) summary
      cd04047
      Location:158 → 269
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:24 → 145
      C2A_Copine; C2 domain first repeat in Copine
      cl00057
      Location:279 → 320
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RNA

    1. XR_245896.5 RNA Sequence

    2. XR_007063052.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      38601932..38855989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371172.1 → XP_054227147.1  copine-8 isoform X2

    2. XM_054371171.1 → XP_054227146.1  copine-8 isoform X1

    3. XM_054371173.1 → XP_054227148.1  copine-8 isoform X3

    4. XM_054371174.1 → XP_054227149.1  copine-8 isoform X4

    RNA

    1. XR_008488537.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YQ8.2 GenPept UniProtKB/Swiss-Prot:Q86YQ8

    Gene LinkOut

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

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