Gene
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12522145
GO:0005544 Function Calcium-dependent phospholipid binding IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0046872 Function Metal ion binding IEA
GO:0070062 Component Extracellular exosome HDA 23533145
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604208 2317 ENSG00000196353
Protein
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
22959728
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 22763110
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWAS
Intracranial Aneurysm Intracranial Aneurysm GWAS
Eosinophilia Eosinophilia GWAS
Associations from Text Mining
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