Gene Gene information from NCBI Gene database.
Entrez ID 57699
Gene name Copine 5
Gene symbol CPNE5
Synonyms (NCBI Gene)
COPN5CPN5
Chromosome 6
Chromosome location 6p21.2
Summary 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 in
miRNA miRNA information provided by mirtarbase database.
92
miRTarBase ID miRNA Experiments Reference
MIRT016953 hsa-miR-335-5p Microarray 18185580
MIRT019270 hsa-miR-148b-3p Microarray 17612493
MIRT023240 hsa-miR-122-5p Microarray 17612493
MIRT570250 hsa-miR-6808-5p PAR-CLIP 20371350
MIRT570249 hsa-miR-6893-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005544 Function Calcium-dependent phospholipid binding IBA
GO:0005544 Function Calcium-dependent phospholipid binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0030154 Process Cell differentiation IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604209 2318 ENSG00000124772
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCH3
Protein name Copine-5 (Copine V)
Protein 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). {ECO:0000250|UniProtKB:Q99829, ECO:000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 24 134 C2 domain Domain
PF00168 C2 177 286 C2 domain Domain
PF07002 Copine 347 566 Copine Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, heart, stomach, spleen, lymph node and testis (PubMed:12949241). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:12949241, ECO:0000269|PubMed:23999003}.
Sequence
Sequence length 593
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY TRACT DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Multiple Myeloma Associate 33780365
★☆☆☆☆
Found in Text Mining only