Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57699
Gene name Gene Name - the full gene name approved by the HGNC.
Copine 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPNE5
Synonyms (NCBI Gene) Gene synonyms aliases
COPN5, CPN5
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005544 Function Calcium-dependent phospholipid binding IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0030154 Process Cell differentiation IEA
GO:0043005 Component Neuron projection IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604209 2318 ENSG00000124772
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Unknown
Disease term Disease name Evidence References Source
Heart failure Heart failure 31113495 ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Multiple Myeloma Associate 33780365