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    CPNE7 copine 7 [ Homo sapiens (human) ]

    Gene ID: 27132, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CPNE7provided by HGNC
    Official Full Name
    copine 7provided by HGNC
    Primary source
    HGNC:HGNC:2320
    See related
    Ensembl:ENSG00000178773 MIM:605689; AllianceGenome:HGNC:2320
    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
    This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
    Expression
    Broad expression in brain (RPKM 2.3), stomach (RPKM 1.2) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPNE7 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89575758..89597246)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (95656186..95677486)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89642166..89663654)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89585576-89586076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89586077-89586577 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:89588494-89589051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89589052-89589608 Neighboring gene SPG7 matrix AAA peptidase subunit, paraplegin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89601956-89602646 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:89625532-89625751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89630776-89631518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89631519-89632262 Neighboring gene small nucleolar RNA, C/D box 68 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:89640372-89640629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7915 Neighboring gene ribosomal protein L13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89665942-89666855 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:89679650-89679808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89681214-89681918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89681919-89682621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89689900-89690772 Neighboring gene dipeptidase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89698470-89699324 Neighboring gene uncharacterized LOC124903758 Neighboring gene charged multivesicular body protein 1A

    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. The Role of CPNE7 (Copine-7) in Colorectal Cancer Prognosis and Metastasis. Kong HJ, et al. Int J Mol Sci, 2023 Nov 24. PMID 38069026, Free PMC Article
    2. CPNE7, a preameloblast-derived factor, regulates odontoblastic differentiation of mesenchymal stem cells. Oh HJ, et al. Biomaterials, 2015 Jan. PMID 25453951
    3. Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3. Savino M, et al. Genomics, 1999 Oct 15. PMID 10534407
    4. Depletion of CPNE7 sensitizes colorectal cancer to 5-fluorouracil by downregulating ATG9B expression. Xu W, et al. J Cell Mol Med, 2024 Apr. PMID 38526029, Free PMC Article
    5. Copines-1, -2, -3, -6 and -7 show different calcium-dependent intracellular membrane translocation and targeting. Perestenko PV, et al. FEBS J, 2010 Dec. PMID 21087455

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Depletion of CPNE7 sensitizes colorectal cancer to 5-fluorouracil by downregulating ATG9B expression.
      Title: Depletion of CPNE7 sensitizes colorectal cancer to 5-fluorouracil by downregulating ATG9B expression.
    2. The Role of CPNE7 (Copine-7) in Colorectal Cancer Prognosis and Metastasis.
      Title: The Role of CPNE7 (Copine-7) in Colorectal Cancer Prognosis and Metastasis.
    3. These results suggest Cpne7 is a diffusible signaling molecule that is secreted by preameloblasts, and regulates the differentiation of mesenchymal cells of dental or non-dental origin into odontoblasts.
      Title: CPNE7, a preameloblast-derived factor, regulates odontoblastic differentiation of mesenchymal stem cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    • MGC34192

    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
    		  
    involved_in cellular response to calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    copine-7
    Names
    copine VII

    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_014427.5 → NP_055242.1  copine-7 isoform b

      See identical proteins and their annotated locations for NP_055242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (b).
      Source sequence(s)
      AC092123, AJ133798, AL539371, BU739859
      Consensus CDS
      CCDS10980.1
      UniProtKB/Swiss-Prot
      Q9UBL6
      Related
      ENSP00000268720.5, ENST00000268720.9
      Conserved Domains (3) summary
      cd04047
      Location:230 → 342
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:22 → 119
      C2A_Copine; C2 domain first repeat in Copine
      pfam07002
      Location:401 → 618
      Copine; Copine

    2. NM_153636.3 → NP_705900.1  copine-7 isoform a

      See identical proteins and their annotated locations for NP_705900.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame segment compared to variant 2. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform b.
      Source sequence(s)
      AC092123, AJ133798, AL539371, BC064577, BU739859
      Consensus CDS
      CCDS10981.1
      UniProtKB/Swiss-Prot
      Q9UBL6
      Related
      ENSP00000317374.8, ENST00000319518.13
      Conserved Domains (3) summary
      cd04047
      Location:155 → 267
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:22 → 140
      C2A_Copine; C2 domain first repeat in Copine
      pfam07002
      Location:326 → 543
      Copine; Copine

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      89575758..89597246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023139.3 → XP_016878628.1  copine-7 isoform X2

    2. XM_017023140.3 → XP_016878629.1  copine-7 isoform X3

    3. XM_047433902.1 → XP_047289858.1  copine-7 isoform X6

    4. XM_017023138.3 → XP_016878627.1  copine-7 isoform X1

    5. XM_011523000.2 → XP_011521302.1  copine-7 isoform X4

      Conserved Domains (3) summary
      cd04047
      Location:155 → 267
      C2B_Copine; C2 domain second repeat in Copine
      cd04048
      Location:22 → 140
      C2A_Copine; C2 domain first repeat in Copine
      pfam07002
      Location:326 → 517
      Copine; Copine

    6. XM_047433901.1 → XP_047289857.1  copine-7 isoform X5

    7. XM_047433905.1 → XP_047289861.1  copine-7 isoform X8

    8. XM_047433906.1 → XP_047289862.1  copine-7 isoform X9

    9. XM_047433908.1 → XP_047289864.1  copine-7 isoform X11

    10. XM_047433907.1 → XP_047289863.1  copine-7 isoform X10

    11. XM_011523001.4 → XP_011521303.1  copine-7 isoform X7

      Conserved Domains (2) summary
      cd04047
      Location:87 → 199
      C2B_Copine; C2 domain second repeat in Copine
      pfam07002
      Location:258 → 449
      Copine; Copine

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      95656186..95677486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380027.1 → XP_054236002.1  copine-7 isoform X2

    2. XM_054380028.1 → XP_054236003.1  copine-7 isoform X3

    3. XM_054380031.1 → XP_054236006.1  copine-7 isoform X6

    4. XM_054380026.1 → XP_054236001.1  copine-7 isoform X1

    5. XM_054380029.1 → XP_054236004.1  copine-7 isoform X4

    6. XM_054380030.1 → XP_054236005.1  copine-7 isoform X5

    7. XM_054380033.1 → XP_054236008.1  copine-7 isoform X8

    8. XM_054380034.1 → XP_054236009.1  copine-7 isoform X9

    9. XM_054380036.1 → XP_054236011.1  copine-7 isoform X13

    10. XM_054380037.1 → XP_054236012.1  copine-7 isoform X14

    11. XM_054380032.1 → XP_054236007.1  copine-7 isoform X7

    12. XM_054380035.1 → XP_054236010.1  copine-7 isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBL6.1 GenPept UniProtKB/Swiss-Prot:Q9UBL6

    Gene LinkOut

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

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