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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 Show/Hide all (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 Show/Hide all (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 159 → 267 C2 domain Domain
PF00168 C2 25 → 135 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 Reference Evidence Score
ATYPICAL FEMORAL FRACTURE — GWAS catalog 31006051
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 28115744
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
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