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Aliases for CPNE8 Gene

Aliases for CPNE8 Gene

  • Copine 8 2 3 5
  • Copine VIII 2 3 4
  • Copine-8 3

External Ids for CPNE8 Gene

Previous GeneCards Identifiers for CPNE8 Gene

  • GC12M037332
  • GC12M039045
  • GC12M036072

Summaries for CPNE8 Gene

Entrez Gene Summary for CPNE8 Gene

  • 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]

GeneCards Summary for CPNE8 Gene

CPNE8 (Copine 8) is a Protein Coding gene. Diseases associated with CPNE8 include Distal Arthrogryposis. An important paralog of this gene is CPNE5.

UniProtKB/Swiss-Prot for CPNE8 Gene

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

Gene Wiki entry for CPNE8 Gene

Additional gene information for CPNE8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPNE8 Gene

Genomics for CPNE8 Gene

Regulatory Elements for CPNE8 Gene

Enhancers for CPNE8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H038384 1 Ensembl ENCODE 7.6 +521.5 521458 2.5 CTCF TFAP4 FOXA2 JUN MAX BRCA1 RAD21 RFX5 SMC3 ATF7 CPNE8 ENSG00000257718 GC12P038428 GC12M038330
GH12H038315 1.1 ENCODE 4.5 +590.6 590647 1.7 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF302 ZNF207 ALG10B CPNE8 GC12P038329
GH12H038138 1 Ensembl ENCODE 4 +768.6 768611 1 CTCF RB1 ZNF223 SIN3A ZNF2 RAD21 RFX5 ZNF324 ZFHX2 ZNF366 CPNE8 ENSG00000274293 AK6P2
GH12H038710 0.3 FANTOM5 11.1 +197.1 197092 0.2 CPNE8 ENSG00000258119 ENSG00000257718
GH12H038123 0.8 ENCODE 4.1 +783.2 783167 1.4 ELF3 SOX13 DRAP1 FOXA2 SAP130 ZNF384 ZNF644 RARA YY1 GATA3 ENSG00000257718 CPNE8 ENSG00000274293 AK6P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CPNE8 on UCSC Golden Path with GeneCards custom track

Promoters for CPNE8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for CPNE8 Gene

Genomic Locations for CPNE8 Gene
260,609 bases
Minus strand

Genomic View for CPNE8 Gene

Genes around CPNE8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPNE8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPNE8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPNE8 Gene

Proteins for CPNE8 Gene

  • Protein details for CPNE8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q2TB41
    • Q86VY2

    Protein attributes for CPNE8 Gene

    564 amino acids
    Molecular mass:
    63108 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CPNE8 Gene


neXtProt entry for CPNE8 Gene

Post-translational modifications for CPNE8 Gene

  • Ubiquitination at isoforms=2405
  • Modification sites at PhosphoSitePlus

Other Protein References for CPNE8 Gene

No data available for DME Specific Peptides for CPNE8 Gene

Domains & Families for CPNE8 Gene

Gene Families for CPNE8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CPNE8 Gene

Suggested Antigen Peptide Sequences for CPNE8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the copine family.
  • Belongs to the copine family.
genes like me logo Genes that share domains with CPNE8: view

Function for CPNE8 Gene

Molecular function for CPNE8 Gene

UniProtKB/Swiss-Prot Function:
Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.

Phenotypes From GWAS Catalog for CPNE8 Gene

Gene Ontology (GO) - Molecular Function for CPNE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CPNE8: view
genes like me logo Genes that share phenotypes with CPNE8: view

Animal Model Products

miRNA for CPNE8 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CPNE8 Gene

Localization for CPNE8 Gene

Subcellular locations from

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 CPNE8 gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CPNE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with CPNE8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CPNE8 Gene

Pathways & Interactions for CPNE8 Gene

SuperPathways for CPNE8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CPNE8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CPNE8: view

No data available for Pathways by source and SIGNOR curated interactions for CPNE8 Gene

Drugs & Compounds for CPNE8 Gene

(1) Drugs for CPNE8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CPNE8: view

Transcripts for CPNE8 Gene

Unigene Clusters for CPNE8 Gene

Copine VIII:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPNE8 Gene

No ASD Table

Relevant External Links for CPNE8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CPNE8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CPNE8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CPNE8 Gene

This gene is overexpressed in Brain (40.2) and Urine (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CPNE8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CPNE8 Gene:


SOURCE GeneReport for Unigene cluster for CPNE8 Gene:


Evidence on tissue expression from TISSUES for CPNE8 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CPNE8: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPNE8 Gene

Orthologs for CPNE8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPNE8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CPNE8 33 34
  • 99.59 (n)
(Ornithorhynchus anatinus)
Mammalia CPNE8 34
  • 95 (a)
(Canis familiaris)
Mammalia CPNE8 33 34
  • 94.27 (n)
(Bos Taurus)
Mammalia CPNE8 33 34
  • 93.56 (n)
(Mus musculus)
Mammalia Cpne8 33 16 34
  • 89.07 (n)
(Rattus norvegicus)
Mammalia Cpne8 33
  • 88.53 (n)
(Gallus gallus)
Aves CPNE8 33 34
  • 83.15 (n)
(Anolis carolinensis)
Reptilia CPNE8 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cpne8 33
  • 79.96 (n)
(Danio rerio)
Actinopterygii CPNE8 (2 of 2) 34
  • 90 (a)
cpne8 33 34
  • 72.18 (n)
(Caenorhabditis elegans)
Secernentea gem-4 34
  • 41 (a)
nra-1 34
  • 39 (a)
cpna-3 34
  • 29 (a)
cpna-5 34
  • 24 (a)
cpna-4 34
  • 23 (a)
cpna-1 34
  • 13 (a)
cpna-2 34
  • 2 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10267 33
Species where no ortholog for CPNE8 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)
  • oppossum (Monodelphis domestica)
  • 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 CPNE8 Gene

Gene Tree for CPNE8 (if available)
Gene Tree for CPNE8 (if available)

Paralogs for CPNE8 Gene

Paralogs for CPNE8 Gene

(8) SIMAP similar genes for CPNE8 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CPNE8: view

Variants for CPNE8 Gene

Sequence variations from dbSNP and Humsavar for CPNE8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000011004 -- 38,853,922(+) CCCAG(C/T)ACAAC intron-variant
rs1000031331 -- 38,808,191(+) TCAGC(A/G)TGGCT intron-variant
rs1000031880 -- 38,902,050(+) TTCAA(A/G)CTTCA intron-variant
rs1000034419 -- 38,664,631(+) TTGAG(A/G)TAAAC intron-variant
rs1000039302 -- 38,713,292(+) CTTCT(C/T)TCATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CPNE8 Gene

Variant ID Type Subtype PubMed ID
nsv676 CNV deletion 18451855
nsv675 CNV insertion 18451855
nsv558574 CNV gain 21841781
nsv558350 CNV gain 21841781
nsv52810 CNV deletion 16902084
nsv479559 CNV novel sequence insertion 20440878
nsv469356 CNV gain 19166990
nsv1047623 CNV loss 25217958
nsv1045040 CNV gain 25217958
esv3629245 CNV loss 21293372
esv3629244 CNV loss 21293372
esv3629242 CNV loss 21293372
esv2761088 CNV gain 21179565
esv2675202 CNV deletion 23128226
esv2656716 CNV deletion 23128226
esv2422488 CNV duplication 17116639
dgv1488n100 CNV gain 25217958
dgv1468n100 CNV gain 25217958

Variation tolerance for CPNE8 Gene

Residual Variation Intolerance Score: 8.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPNE8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPNE8 Gene

Disorders for CPNE8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CPNE8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
distal arthrogryposis
  • arthrogryposis multiplex congenita
- elite association - COSMIC cancer census association via MalaCards
Search CPNE8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CPNE8

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CPNE8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPNE8 Gene

Publications for CPNE8 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  3. Cloning, molecular characterization, and expression analysis of Copine 8. (PMID: 12670487) Maitra R … Lee B (Biochemical and biophysical research communications 2003) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R … Boisvert FM (Molecular & cellular proteomics : MCP 2015) 3 60

Products for CPNE8 Gene

Sources for CPNE8 Gene

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