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CPNE7 Gene(Protein Coding)

Copine 7

GCID:
GC16P089575
GIFtS:
45
Genes Participants
UDN Logo

Aliases for CPNE7 Gene

Aliases for CPNE7 Gene

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

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. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is CPNE4.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CPNE7 Gene

Genomics for CPNE7 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CPNE7 Gene

Promoters and enhancers for CPNE7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I089573 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.3 -347 2.9 HDGF PKNOX1 ATF1 SIN3A POLR2B ZNF207 ZNF143 ATF7 RUNX3 REST CPNE7 CDK10 RPL13 SLC22A31 SPG7 VPS9D1-AS1 PIR36548 GC16P089578
GH16I089297 Enhancer 1.2 Ensembl ENCODE dbSUPER 4.4 -275.0 -274964 6.8 CTCF KLF1 FOXA2 ZNF449 ZSCAN4 MAX SIN3A CEBPG BMI1 ZNF48 LINC00304 TUBB3 ACSF3 ENSG00000260279 ANKRD11 RPL13 ENSG00000259877 CPNE7 LOC105371414 LOC100287036
GH16I089449 Enhancer 0.8 Ensembl ENCODE dbSUPER 4.4 -125.8 -125767 1.2 ZNF121 PRDM1 SPI1 SPG7 CPNE7 LOC100130664 GC16P089443 LOC101927817 ANKRD11
GH16I089457 Enhancer 0.8 Ensembl ENCODE dbSUPER 4.4 -117.1 -117135 1.6 SCRT2 ZBTB33 PRDM1 LOC100130664 CPNE7 GC16P089443 ANKRD11
GH16I089572 Enhancer 0.9 ENCODE dbSUPER 0.8 -3.4 -3437 0.1 PKNOX1 NR2F1 MAX MXD4 CBFA2T3 MNT GABPA E2F1 ZNF217 ZGPAT CPNE7 GC16P089578 PIR36548
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CPNE7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CPNE7 gene promoter:

Genomic Locations for CPNE7 Gene

Genomic Locations for CPNE7 Gene
chr16:89,575,768-89,597,246
(GRCh38/hg38)
Size:
21,479 bases
Orientation:
Plus strand
chr16:89,642,176-89,663,654
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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
    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:
ProtoNet:

Suggested Antigen Peptide Sequences for CPNE7 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CPNE7 Gene

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

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

Animal Model Products

miRNA for CPNE7 Gene

miRTarBase miRNAs that target CPNE7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , 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
extracellular 5
nucleus 5
cytosol 3

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 IDA,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

(1) Drugs for CPNE7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with CPNE7: view

Transcripts for CPNE7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CPNE7 Gene

(8) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CPNE7 Gene

Copine VII:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CPNE7 Gene

GeneLoc Exon Structure for
CPNE7
ECgene alternative splicing isoforms for
CPNE7

Expression for CPNE7 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

NURSA nuclear receptor signaling pathways regulating expression of CPNE7 Gene:

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(4.2)
genes like me logo Genes that share expression patterns with CPNE7: view

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 33
  • 91.65 (n)
cow
(Bos Taurus)
 Mammalia CPNE7 33 34
  • 87.58 (n)
dog
(Canis familiaris)
 Mammalia CPNE7 33 34
  • 86.16 (n)
rat
(Rattus norvegicus)
 Mammalia Cpne7 33
  • 85.22 (n)
mouse
(Mus musculus)
 Mammalia Cpne7 33 16 34
  • 84.51 (n)
oppossum
(Monodelphis domestica)
 Mammalia CPNE7 34
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CPNE7 34
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CPNE7 33 34
  • 83.15 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 87 (a)
 OneToMany
-- 34
  • 78 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia cpne7 33
  • 72.71 (n)
zebrafish
(Danio rerio)
 Actinopterygii CPNE7 34
  • 75 (a)
 OneToOne
LOC564556 33
  • 72.69 (n)
worm
(Caenorhabditis elegans)
 Secernentea gem-4 34
  • 35 (a)
 ManyToMany
nra-1 34
  • 35 (a)
 ManyToMany
Y73F8A.19 35
  • 28 (a)
cpna-4 34
  • 21 (a)
 ManyToMany
cpna-5 34
  • 21 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 57 (a)
 OneToMany
Species where no ortholog for CPNE7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CPNE7 Gene

Paralogs for CPNE7 Gene

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

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

Variants for CPNE7 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CPNE7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000031435 -- 89,575,514(+) C/T upstream_transcript_variant
rs1000079252 -- 89,594,557(+) C/T intron_variant
rs1000186637 -- 89,579,483(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000243934 -- 89,597,519(+) C/T downstream_transcript_variant
rs1000326963 -- 89,579,303(+) A/T genic_upstream_transcript_variant, intron_variant

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 Assay Products

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

Disorders for CPNE7 Gene

Additional Disease Information for CPNE7

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CPNE7 Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. CPNE7, a preameloblast-derived factor, regulates odontoblastic differentiation of mesenchymal stem cells. (PMID: 25453951) Oh HJ … Park JC (Biomaterials 2015) 3 58

Products for CPNE7 Gene

Sources for CPNE7 Gene

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