Gene Gene information from NCBI Gene database.
Entrez ID 144402
Gene name Copine 8
Gene symbol CPNE8
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q12
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.
119
miRTarBase ID miRNA Experiments Reference
MIRT005134 hsa-miR-30a-5p pSILAC 18668040
MIRT022217 hsa-miR-124-3p Microarray 18668037
MIRT005134 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT051072 hsa-miR-16-5p CLASH 23622248
MIRT704491 hsa-miR-8485 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005544 Function Calcium-dependent phospholipid binding IBA
GO:0005544 Function Calcium-dependent phospholipid binding IEA
GO:0005886 Component Plasma membrane IBA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YQ8
Protein name Copine-8 (Copine VIII)
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 25 135 C2 domain Domain
PF00168 C2 159 267 C2 domain Domain
PF07002 Copine 328 547 Copine Family
Sequence
Sequence length 564
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthrogryposis Arthrogryposis multiplex congenita BEFREE 16734683
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder GWASCAT_DG 28115744
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 27081041 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31487856 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 33780365 Associate
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 35409173 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 34663825, 35982908 Associate
★☆☆☆☆
Found in Text Mining only