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CPNE7 copine 7 [ Homo sapiens (human) ]

Gene ID: 27132, updated on 31-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89575758..89597246)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (95656186..95677486)
105.20220307 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. CPNE7, a preameloblast-derived factor, regulates odontoblastic differentiation of mesenchymal stem cells. Oh HJ, et al. Biomaterials, 2015 Jan. PMID 25453951
  2. 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
  3. 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
  4. The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins. Hémono M, et al. BMC Biol, 2022 Jan 10. PMID 35012549, Free PMC Article
  5. USP45 and Spindly are part of the same complex implicated in cell migration. Conte C, et al. Sci Rep, 2018 Sep 26. PMID 30258100, Free PMC Article

See all (25) 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)

Genotypes

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
  

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_2023_10

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

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