CPNE7 (copine 7)

Gene

• Entrez ID: 27132
• Gene name: Copine 7
• Gene symbol: CPNE7
• Synonyms (NCBI Gene): -
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024962	hsa-miR-214-3p	Microarray;Other	19859982
MIRT906744	hsa-miR-1207-5p	CLIP-seq
MIRT906745	hsa-miR-24	CLIP-seq
MIRT906746	hsa-miR-3622b-5p	CLIP-seq
MIRT906747	hsa-miR-3918	CLIP-seq
MIRT906748	hsa-miR-4269	CLIP-seq
MIRT906749	hsa-miR-4284	CLIP-seq
MIRT906750	hsa-miR-4488	CLIP-seq
MIRT906751	hsa-miR-4514	CLIP-seq
MIRT906752	hsa-miR-4640-5p	CLIP-seq
MIRT906753	hsa-miR-4645-5p	CLIP-seq
MIRT906754	hsa-miR-4673	CLIP-seq
MIRT906755	hsa-miR-4692	CLIP-seq
MIRT906756	hsa-miR-4697-5p	CLIP-seq
MIRT906757	hsa-miR-4726-5p	CLIP-seq
MIRT906758	hsa-miR-4742-5p	CLIP-seq
MIRT906759	hsa-miR-4755-3p	CLIP-seq
MIRT906760	hsa-miR-4763-3p	CLIP-seq
MIRT906761	hsa-miR-940	CLIP-seq
MIRT2204849	hsa-miR-214	CLIP-seq
MIRT2204850	hsa-miR-3619-5p	CLIP-seq
MIRT2204851	hsa-miR-3929	CLIP-seq
MIRT2204852	hsa-miR-4419b	CLIP-seq
MIRT2204853	hsa-miR-4459	CLIP-seq
MIRT2204854	hsa-miR-4478	CLIP-seq
MIRT2204855	hsa-miR-4530	CLIP-seq
MIRT2204856	hsa-miR-4695-5p	CLIP-seq
MIRT2204857	hsa-miR-485-5p	CLIP-seq
MIRT2204858	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005544	Function	Calcium-dependent phospholipid binding	IBA
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005634	Component	Nucleus	IDA	21087455
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	21087455
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21087455
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	TAS	10534407
GO:0016020	Component	Membrane	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071277	Process	Cellular response to calcium ion	IBA
GO:0071277	Process	Cellular response to calcium ion	IDA	21087455

Other IDs

• MIM: 605689
• HGNC: 2320
• e!Ensembl: ENSG00000178773

Protein

• UniProt ID: Q9UBL6
• Protein name: Copine-7 (Copine VII)
• Protein function: 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 → 129	C2 domain	Domain
  PF00168	C2	234 → 340	C2 domain	Domain
  PF07002	Copine	401 → 618	Copine	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain, testis, thymus and small intestine (PubMed:10534407, PubMed:12949241). {ECO:0000269|PubMed:10534407, ECO:0000269|PubMed:12949241}.
• Sequence:

  MSAGSERGAAATPGGLPAPCASKVELRLSCRHLLDRDPLTKSDPSVALLQQAQGQWVQVG
  RTEVVRSSLHPVFSKVFTVDYYFEEVQRLRFEVYDTHGPSGFSCQEDDFLGGMECTLGQP
  AQKWLLQVVMRVSVDVLGPAGHCAKHFLCCTESSHLARTGPSFLLRYDDLCLPWATAGAV
  RWWTCRGGHTQGWQIVAQKKVTRPLLLKFGRNAGKSTITVIAEDISGNNGYVELSFRARK
  LDDKDLFSKSDPFLELYRVNDDQGLQLVYRTEVVKNNLNPVWEAFKVSLSSLCSCEETRP
  LKCLVWDYDSRGKHDFIGEFSTTFEEMQKAFEEGQAQWDCVNPKYKQKRRSYKNSGVVVL
  ADLKFHRVYSFLDYIMGGCQIHFTVAIDFTASNGDPRNSCSLHYINPYQPNEYLKALVSV
  GEICQDYDSDKRFSALGFGARIPPKYEVSHDFAINFNPEDDECEGIQGVVEAYQNCLPRV
  QLYGPTNVAPIISKVARVAAAEESTGKASQYYILLILTDGVVTDMADTREAIVRASRLPM
  SIIIVGVGNADFTDMQVLDGDDGVLRSPRGEPALRDIVQFVPFRELKNASPAALAKCVLA
  EVPKQVVEYYSHRGLPPRSLGVPAGEASPGCTP

• Sequence length: 633

Pathways

Reactome:

Glycerophospholipid biosynthesis

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	10534407		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38069026	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10534407		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33780365	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10534407		★☆☆☆☆ Found in Text Mining only