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. Several alternatively spliced transcript variants encoding different isoform... See more...

Aliases for CPNE5 Gene

Aliases for CPNE5 Gene

  • Copine 5 2 3 5
  • Copine V 2 3 4
  • Copine-5 3 4
  • KIAA1599 2 4
  • COPN5 2 3
  • CPN5 2 3
  • CPNE5 5

External Ids for CPNE5 Gene

Previous GeneCards Identifiers for CPNE5 Gene

  • GC06M036710
  • GC06M036755
  • GC06M036816
  • GC06M036426
  • GC06M038972
  • GC06M039791
  • GC06M039970
  • GC06M041304
  • GC06M036817
  • GC06M036960
  • GC06M037037
  • GC06M037383
  • GC06M037740
  • GC06M038086
  • GC06M038475
  • GC06M038821
  • GC06M042232
  • GC06M043488

Summaries for CPNE5 Gene

Entrez Gene Summary for CPNE5 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. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]

GeneCards Summary for CPNE5 Gene

CPNE5 (Copine 5) is a Protein Coding gene. An important paralog of this gene is CPNE8.

UniProtKB/Swiss-Prot Summary for CPNE5 Gene

  • Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPNE5 Gene

Genomics for CPNE5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CPNE5 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 CPNE5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPNE5

Top Transcription factor binding sites by QIAGEN in the CPNE5 gene promoter:
  • aMEF-2
  • AML1a
  • c-Rel
  • E47
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • HTF
  • MEF-2A
  • NF-1

Genomic Locations for CPNE5 Gene

Latest Assembly
chr6:36,740,773-36,839,998
(GRCh38/hg38)
Size:
99,226 bases
Orientation:
Minus strand

Previous Assembly
chr6:36,708,552-36,807,774
(GRCh37/hg19 by Entrez Gene)
Size:
99,223 bases
Orientation:
Minus strand

chr6:36,708,552-36,807,778
(GRCh37/hg19 by Ensembl)
Size:
99,227 bases
Orientation:
Minus strand

Genomic View for CPNE5 Gene

Genes around CPNE5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPNE5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPNE5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPNE5 Gene

Proteins for CPNE5 Gene

  • Protein details for CPNE5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCH3-CPNE5_HUMAN
    Recommended name:
    Copine-5
    Protein Accession:
    Q9HCH3
    Secondary Accessions:
    • Q7Z6C8

    Protein attributes for CPNE5 Gene

    Size:
    593 amino acids
    Molecular mass:
    65734 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB13425.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CPNE5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CPNE5 Gene

Post-translational modifications for CPNE5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CPNE5 Gene

Domains & Families for CPNE5 Gene

Gene Families for CPNE5 Gene

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

Protein Domains for CPNE5 Gene

InterPro:
Blocks:
  • C2 domain
  • Von Willebrand factor type A domain signature
  • Copine

Suggested Antigen Peptide Sequences for CPNE5 Gene

GenScript: Design optimal peptide antigens:
  • Copine V (CPNE5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCH3

UniProtKB/Swiss-Prot:

CPNE5_HUMAN :
  • Belongs to the copine family.
Family:
  • Belongs to the copine family.
genes like me logo Genes that share domains with CPNE5: view

Function for CPNE5 Gene

Molecular function for CPNE5 Gene

UniProtKB/Swiss-Prot Function:
Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).
GENATLAS Biochemistry:
copine 5,calcium-dependent,phospholipid binding protein,potentially involved in regulating membrane trafficking,expressed in several tissues

Phenotypes From GWAS Catalog for CPNE5 Gene

Gene Ontology (GO) - Molecular Function for CPNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005544 calcium-dependent phospholipid binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CPNE5: view
genes like me logo Genes that share phenotypes with CPNE5: view

Animal Models for CPNE5 Gene

MGI Knock Outs for CPNE5:
  • Cpne5 Cpne5<tm2b(EUCOMM)Hmgu>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPNE5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CPNE5 Gene

Localization for CPNE5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPNE5 Gene

Perikaryon. Cell projection.

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 CPNE5 gene
Compartment Confidence
extracellular 4
cytosol 4
plasma membrane 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CPNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0042995 cell projection IEA --
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with CPNE5: view

Pathways & Interactions for CPNE5 Gene

PathCards logo

SuperPathways for CPNE5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CPNE5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0071277 cellular response to calcium ion IBA 21873635
GO:1903861 positive regulation of dendrite extension IDA --
genes like me logo Genes that share ontologies with CPNE5: view

No data available for Pathways by source and SIGNOR curated interactions for CPNE5 Gene

Drugs & Compounds for CPNE5 Gene

(1) Drugs for CPNE5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with CPNE5: view

Transcripts for CPNE5 Gene

mRNA/cDNA for CPNE5 Gene

13 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 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 CPNE5

Alternative Splicing Database (ASD) splice patterns (SP) for CPNE5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^
SP1: - - - - -
SP2: - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7: - -
SP8:

ExUns: 23a · 23b ^ 24 ^ 25
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CPNE5 Gene

GeneLoc Exon Structure for
CPNE5

Expression for CPNE5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPNE5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPNE5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.3), Heart - Atrial Appendage (x5.8), Brain - Putamen (basal ganglia) (x4.6), and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for CPNE5 Gene

This gene is overexpressed in Brain (28.7), Heart (25.6), and Frontal cortex (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CPNE5 Gene



Protein tissue co-expression partners for CPNE5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPNE5

SOURCE GeneReport for Unigene cluster for CPNE5 Gene:

Hs.657869

mRNA Expression by UniProt/SwissProt for CPNE5 Gene:

Q9HCH3-CPNE5_HUMAN
Tissue specificity: Expressed in the brain, heart, stomach, spleen, lymph node and testis (PubMed:12949241). Expressed in melanocytes (PubMed:23999003).

Evidence on tissue expression from TISSUES for CPNE5 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with CPNE5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CPNE5 Gene

Orthologs for CPNE5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CPNE5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CPNE5 29 30
  • 99.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CPNE5 29 30
  • 92.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CPNE5 29 30
  • 92.3 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CPNE5 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cpne5 29 16 30
  • 89.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cpne5 29
  • 89.38 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CPNE5 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CPNE5 30
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CPNE5 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cpne9 29
  • 70.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32366 29
Zebrafish
(Danio rerio)
Actinopterygii CPNE5 (1 of 2) 30
  • 82 (a)
OneToMany
cpne5 29 30
  • 78.03 (n)
OneToMany
zgc64194 29
Worm
(Caenorhabditis elegans)
Secernentea nra-1 29 30
  • 50.69 (n)
ManyToMany
gem-4 30
  • 41 (a)
ManyToMany
cpna-5 30
  • 24 (a)
ManyToMany
cpna-4 30
  • 23 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 57 (a)
OneToMany
Species where no ortholog for CPNE5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 CPNE5 Gene

ENSEMBL:
Gene Tree for CPNE5 (if available)
TreeFam:
Gene Tree for CPNE5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPNE5: view image
Alliance of Genome Resources:
Additional Orthologs for CPNE5

Paralogs for CPNE5 Gene

Paralogs for CPNE5 Gene

(9) SIMAP similar genes for CPNE5 Gene using alignment to 2 proteins:

  • CPNE5_HUMAN
  • Q7Z6C8_HUMAN
genes like me logo Genes that share paralogs with CPNE5: view

Variants for CPNE5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPNE5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs146907172 Benign: not provided 36,745,524(-) C/T
NM_020939.2(CPNE5):c.1201-9G>A
INTRON
rs150763631 Benign: not provided 36,742,292(-) C/A
NM_020939.2(CPNE5):c.1758G>T (p.Ala586=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON
rs183437097 Benign: not provided 36,745,147(-) A/C
NM_020939.2(CPNE5):c.1332T>G (p.Asn444Lys)
MISSENSE
rs201371608 Benign: not provided 36,794,654(-) GGA/G
NM_020939.2(CPNE5):c.405-13TC[3]
INTRON
rs35931885 Benign: not provided 36,774,990(-) C/T
NM_020939.2(CPNE5):c.708G>A (p.Val236=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CPNE5 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 CPNE5 Gene

Variant ID Type Subtype PubMed ID
dgv379n21 CNV loss 19592680
esv2731931 CNV deletion 23290073
esv3396486 CNV duplication 20981092
esv3608712 CNV loss 21293372
esv991181 CNV deletion 20482838
nsv1015689 CNV gain 25217958
nsv524053 CNV loss 19592680
nsv5261 CNV deletion 18451855
nsv5262 CNV deletion 18451855
nsv602950 CNV loss 21841781
nsv602951 CNV loss 21841781
nsv818413 CNV loss 17921354
nsv819609 CNV loss 19587683

Variation tolerance for CPNE5 Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPNE5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPNE5
Leiden Open Variation Database (LOVD)
CPNE5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPNE5 Gene

Disorders for CPNE5 Gene

Additional Disease Information for CPNE5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for CPNE5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CPNE5 Gene

Publications for CPNE5 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4
  4. The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans. (PMID: 9430674) Creutz CE … Cohen J (The Journal of biological chemistry 1998) 2 3
  5. A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. (PMID: 33144569) van den Boomen DJH … Lehner PJ (Nature communications 2020) 3

Products for CPNE5 Gene

Sources for CPNE5 Gene