CPNE4 (copine 4)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
131034
Gene name Gene Name - the full gene name approved by the HGNC.
Copine 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPNE4
Synonyms (NCBI Gene) Gene synonyms aliases
COPN4, CPN4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT018790 hsa-miR-335-5p Microarray 18185580
MIRT019434 hsa-miR-148b-3p Microarray 17612493
MIRT023352 hsa-miR-122-5p Microarray 17612493
MIRT2427977 hsa-miR-1303 CLIP-seq
MIRT2427978 hsa-miR-4698 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12522145, 32296183
GO:0005544 Function Calcium-dependent phospholipid binding IBA
GO:0005544 Function Calcium-dependent phospholipid binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0045202 Component Synapse IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604208 2317 ENSG00000196353
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96A23
Protein name Copine-4 (Copine IV) (Copine-8)
Protein function Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 26 → 132 C2 domain Domain
PF00168 C2 159 → 265 C2 domain Domain
PF07002 Copine 326 → 543 Copine Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:12670487, PubMed:12949241). Expressed strongly in the brain, heart and prostate (PubMed:12670487, PubMed:12949241). Expressed strongly in peripheral blood leukocytes (PubMed:12949241). {ECO:0000269|PubMed:12670
Sequence
Sequence length 557
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 23202439
Coronary Artery Disease Associate 25328121
Minicore Myopathy with External Ophthalmoplegia Associate 25328121
Multiple Myeloma Associate 33780365