CPNE7 Gene (Protein Coding)

Copine 7

GC16P089575
GIFtS:
39
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. [provid... See more...

Aliases for CPNE7 Gene

Aliases for CPNE7 Gene

  • Copine 7 2 3 5
  • Copine VII 2 3 4
  • Copine-7 3 4
  • CPNE7 5

External Ids for CPNE7 Gene

Previous GeneCards Identifiers for CPNE7 Gene

  • GC16P080962
  • GC16P090630
  • GC16P089345
  • GC16P089385
  • GC16P088169
  • GC16P089643
  • GC16P075338
  • GC16P089646
  • GC16P089652
  • GC16P089663
  • GC16P089671

Summaries for CPNE7 Gene

Entrez Gene Summary for CPNE7 Gene

  • 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]

GeneCards Summary for CPNE7 Gene

CPNE7 (Copine 7) is a Protein Coding gene. Diseases associated with CPNE7 include Giant Cell Glioblastoma. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is CPNE4.

UniProtKB/Swiss-Prot Summary for CPNE7 Gene

  • Calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.

Additional gene information for CPNE7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPNE7 Gene

Genomics for CPNE7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CPNE7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CPNE7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPNE7

Top Transcription factor binding sites by QIAGEN in the CPNE7 gene promoter:
  • AML1a
  • E47
  • LCR-F1
  • Pax-5
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • RFX1
  • RORalpha2
  • ZID

Genomic Locations for CPNE7 Gene

Latest Assembly
chr16:89,575,758-89,597,246
(GRCh38/hg38)
Size:
21,489 bases
Orientation:
Plus strand

Previous Assembly
chr16:89,642,166-89,663,654
(GRCh37/hg19 by Entrez Gene)
Size:
21,489 bases
Orientation:
Plus strand

chr16:89,642,176-89,663,654
(GRCh37/hg19 by Ensembl)
Size:
21,479 bases
Orientation:
Plus strand

Genomic View for CPNE7 Gene

Genes around CPNE7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPNE7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPNE7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CPNE7 Gene

Proteins for CPNE7 Gene

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  3. Assay products for research

  • Protein details for CPNE7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBL6-CPNE7_HUMAN
    Recommended name:
    Copine-7
    Protein Accession:
    Q9UBL6

    Protein attributes for CPNE7 Gene

    Size:
    633 amino acids
    Molecular mass:
    70294 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CPNE7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPNE7 Gene

Protein Expression for CPNE7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CPNE7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPNE7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CPNE7 Gene

Domains & Families for CPNE7 Gene

Gene Families for CPNE7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CPNE7 Gene

InterPro:
Blocks:
  • C2 domain
  • Copine
ProtoNet:

Suggested Antigen Peptide Sequences for CPNE7 Gene

GenScript: Design optimal peptide antigens:
  • Copine VII (CPNE7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBL6

UniProtKB/Swiss-Prot:

CPNE7_HUMAN :
  • The C2 domain 1 is not necessary for calcium-mediated translocation and association to the plasma membrane. The C2 domain 2 is necessary for calcium-mediated translocation and association to the plasma membrane.
  • Belongs to the copine family.
Domain:
  • The C2 domain 1 is not necessary for calcium-mediated translocation and association to the plasma membrane. The C2 domain 2 is necessary for calcium-mediated translocation and association to the plasma membrane.
Family:
  • Belongs to the copine family.
genes like me logo Genes that share domains with CPNE7: view

Function for CPNE7 Gene

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  6. Cell Lines for research

Molecular function for CPNE7 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.
GENATLAS Biochemistry:
copine VII,member of the COPINE family,potential tumor suppressor,but excluded as a candidate gene in breast cancers (TSG16A,TSG16D)

Phenotypes From GWAS Catalog for CPNE7 Gene

Gene Ontology (GO) - Molecular Function for CPNE7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 10534407
GO:0005515 protein binding IPI 25416956
GO:0005544 calcium-dependent phospholipid binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CPNE7: view
genes like me logo Genes that share phenotypes with CPNE7: view

Animal Models for research

miRNA for CPNE7 Gene

miRTarBase miRNAs that target CPNE7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPNE7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CPNE7 Gene

Localization for CPNE7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPNE7 Gene

Cytoplasm. Nucleus. Cell membrane. Note=Translocates to the cell membrane in a calcium-dependent manner (PubMed:21087455). {ECO:0000269 PubMed:21087455}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPNE7 gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 4
cytosol 3
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CPNE7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21087455
GO:0005737 cytoplasm IEA,IDA 21087455
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with CPNE7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CPNE7 Gene

Pathways & Interactions for CPNE7 Gene

genes like me logo Genes that share pathways with CPNE7: view

Pathways by source for CPNE7 Gene

Gene Ontology (GO) - Biological Process for CPNE7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 10534407
GO:0046474 glycerophospholipid biosynthetic process TAS --
GO:0071277 cellular response to calcium ion IDA 21087455
genes like me logo Genes that share ontologies with CPNE7: view

No data available for SIGNOR curated interactions for CPNE7 Gene

Drugs & Compounds for CPNE7 Gene

Products:

  1. Drug products for research

(1) Drugs for CPNE7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876
genes like me logo Genes that share compounds with CPNE7: view

Transcripts for CPNE7 Gene

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mRNA/cDNA for CPNE7 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPNE7

Alternative Splicing Database (ASD) splice patterns (SP) for CPNE7 Gene

No ASD Table

Relevant External Links for CPNE7 Gene

GeneLoc Exon Structure for
CPNE7

Expression for CPNE7 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPNE7 Gene

mRNA expression in normal human tissues for CPNE7 Gene
mRNA expression by BioGPS for CPNE7 GenemRNA expression by GTEx for CPNE7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPNE7 Gene

This gene is overexpressed in Brain - Cortex (x5.1), Brain - Anterior cingulate cortex (BA24) (x4.6), and Pituitary (x4.6).

Protein differential expression in normal tissues from HIPED for CPNE7 Gene

This gene is overexpressed in Lung (42.7), Urine (6.8), and Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPNE7 Gene



Protein tissue co-expression partners for CPNE7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPNE7

SOURCE GeneReport for Unigene cluster for CPNE7 Gene:

Hs.461775

mRNA Expression by UniProt/SwissProt for CPNE7 Gene:

Q9UBL6-CPNE7_HUMAN
Tissue specificity: Expressed in the brain, testis, thymus and small intestine (PubMed:10534407, PubMed:12949241).

Evidence on tissue expression from TISSUES for CPNE7 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CPNE7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPNE7 Gene

Orthologs for CPNE7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPNE7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CPNE7 30
  • 91.65 (n)
Cow
(Bos Taurus)
 Mammalia CPNE7 30 31
  • 87.58 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CPNE7 30 31
  • 86.16 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cpne7 30
  • 85.22 (n)
Mouse
(Mus musculus)
 Mammalia Cpne7 30 17 31
  • 84.51 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CPNE7 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CPNE7 31
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CPNE7 30 31
  • 83.15 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 87 (a)
 OneToMany
-- 31
  • 78 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cpne7 30
  • 72.71 (n)
Zebrafish
(Danio rerio)
 Actinopterygii CPNE7 31
  • 75 (a)
 OneToOne
LOC564556 30
  • 72.69 (n)
Worm
(Caenorhabditis elegans)
 Secernentea gem-4 31
  • 35 (a)
 ManyToMany
nra-1 31
  • 35 (a)
 ManyToMany
Y73F8A.19 32
  • 28 (a)
cpna-5 31
  • 21 (a)
 ManyToMany
cpna-4 31
  • 21 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 57 (a)
 OneToMany
Species where no ortholog for CPNE7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CPNE7 Gene

ENSEMBL:
Gene Tree for CPNE7 (if available)
TreeFam:
Gene Tree for CPNE7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPNE7: view image

Paralogs for CPNE7 Gene

Paralogs for CPNE7 Gene

(8) SIMAP similar genes for CPNE7 Gene using alignment to 5 proteins:

  • CPNE7_HUMAN
  • E9PJ31_HUMAN
  • H0YE30_HUMAN
  • H0YEH8_HUMAN
  • H3BP03_HUMAN
genes like me logo Genes that share paralogs with CPNE7: view

Variants for CPNE7 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPNE7 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs28568523 - p.Arg397Gln
rs35731090 - p.Lys507Glu
rs3751682 - p.Pro633Leu
rs455527 - p.Phe77Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CPNE7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CPNE7 Gene

Variant ID Type Subtype PubMed ID
dgv385e201 CNV deletion 23290073
dgv386e201 CNV deletion 23290073
esv1000486 CNV deletion 20482838
esv1046929 CNV insertion 17803354
esv1076593 CNV deletion 17803354
esv1215908 CNV insertion 17803354
esv2157132 CNV deletion 18987734
esv2248730 CNV deletion 18987734
esv24151 CNV gain 19812545
esv24414 CNV gain 19812545
esv2670517 CNV deletion 23128226
esv2672114 CNV deletion 23128226
esv2715173 CNV deletion 23290073
esv2715177 CNV deletion 23290073
esv2715179 CNV deletion 23290073
esv2715180 CNV deletion 23290073
esv2758670 CNV gain 17122850
esv33444 CNV gain 17666407
esv3553906 CNV deletion 23714750
esv3553907 CNV deletion 23714750
esv3582436 CNV loss 25503493
esv3639587 CNV loss 21293372
esv3639588 CNV gain 21293372
esv988408 CNV deletion 20482838
nsv103622 CNV deletion 16902084
nsv1063483 CNV gain 25217958
nsv1066382 CNV gain 25217958
nsv428331 CNV gain+loss 18775914
nsv471118 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv509639 CNV insertion 20534489
nsv573738 CNV loss 21841781
nsv827847 CNV gain 20364138
nsv9477 CNV gain+loss 18304495
nsv952075 CNV deletion 24416366
nsv955370 CNV deletion 24416366

Variation tolerance for CPNE7 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.73; 83.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPNE7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPNE7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPNE7 Gene

Disorders for CPNE7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CPNE7 Gene - From: COP

Disorder Aliases PubMed IDs
giant cell glioblastoma
  • monstrocellular sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search CPNE7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CPNE7

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CPNE7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPNE7 Gene

Publications for CPNE7 Gene

  1. Copines-1, -2, -3, -6 and -7 show different calcium-dependent intracellular membrane translocation and targeting. (PMID: 21087455) Perestenko PV … Jeffrey McIlhinney RA (The FEBS journal 2010) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  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. (PMID: 10534407) Savino M … Savoia A (Genomics 1999) 3 4
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for CPNE7 gene in Mastermind

Products for CPNE7 Gene

Sources for CPNE7 Gene