Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	131034
Gene name	Copine 4
Gene symbol	CPNE4
Synonyms (NCBI Gene)	COPN4CPN4
Chromosome	3
Chromosome location	3q22.1
Summary	This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants

miRTarBase ID	miRNA	Experiments	Reference
MIRT018790	hsa-miR-335-5p	Microarray	18185580
MIRT019434	hsa-miR-148b-3p	Microarray	17612493
MIRT023352	hsa-miR-122-5p	Microarray	17612493
MIRT2427977	hsa-miR-1303	CLIP-seq
MIRT2427978	hsa-miR-4698	CLIP-seq

9 Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12522145, 32296183
GO:0005544	Function	Calcium-dependent phospholipid binding	IBA
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005886	Component	Plasma membrane	IBA
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:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
604208	2317	ENSG00000196353

Q96A23

Protein name

Copine-4 (Copine IV) (Copine-8)

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 → 265	C2 domain	Domain
PF00168	C2	26 → 132	C2 domain	Domain
PF07002	Copine	326 → 543	Copine	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:12670487, PubMed:12949241). Expressed strongly in the brain, heart and prostate (PubMed:12670487, PubMed:12949241). Expressed strongly in peripheral blood leukocytes (PubMed:12949241). {ECO:0000269|PubMed:12670

Sequence

MKKMSNIYESAANTLGIFNSPCLTKVELRVACKGISDRDALSKPDPCVILKMQSHGQWFE
VDRTEVIRTCINPVYSKLFTVDFYFEEVQRLRFEVHDISSNHNGLKEADFLGGMECTLGQ
IVSQRKLSKSLLKHGNTAGKSSITVIAEELSGNDDYVELAFNARKLDDKDFFSKSDPFLE
IFRMNDDATQQLVHRTEVVMNNLSPAWKSFKVSVNSLCSGDPDRRLKCIVWDWDSNGKHD
FIGEFTSTFKEMRGAMEGKQVQWECINPKYKAKKKNYKNSGTVILNLCKIHKMHSFLDYI
MGGCQIQFTVAIDFTASNGDPRNSCSLHYIHPYQPNEYLKALVAVGEICQDYDSDKMFPA
FGFGARIPPEYTVSHDFAINFNEDNPECAGIQGVVEAYQSCLPKLQLYGPTNIAPIIQKV
AKSASEETNTKEASQYFILLILTDGVITDMADTREAIVHASHLPMSVIIVGVGNADFSDM
QMLDGDDGILRSPKGEPVLRDIVQFVPFRNFKHASPAALAKSVLAEVPNQVVDYYNGKGI
KPKCSSEMYESSRTLAP

Sequence length

557

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (16)
ALZHEIMER DISEASE	—	GWAS catalog	40708016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	22959728	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	29531279	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	GWAS catalog	27171184	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	39046104, 40708016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	31533690	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	34506852	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	40341939	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	31589552, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	31589552, 32541925, 38374256, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Alzheimer Disease	Alzheimer disease	Pubtator	23202439	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	22959728		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	25328121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	22763110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motion Sickness	Motion Sickness	GWASCAT_DG	25628336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33780365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CPNE4 (copine 4)

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