CPNE6 (copine 6)

Gene

• Entrez ID: 9362
• Gene name: Copine 6
• Gene symbol: CPNE6
• Synonyms (NCBI Gene): copine-6
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: This gene encodes a member of the copine family. Members of this family are calcium-dependent, phospholipid-binding proteins with C2 domains, two calcium- and phospholipid-binding domains. Through their domain structure and lipid binding capabilities, the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003821	hsa-miR-197-3p	Microarray	16822819
MIRT017193	hsa-miR-335-5p	Microarray	18185580
MIRT906733	hsa-miR-1270	CLIP-seq
MIRT906734	hsa-miR-185	CLIP-seq
MIRT906735	hsa-miR-28-5p	CLIP-seq
MIRT906736	hsa-miR-3139	CLIP-seq
MIRT906737	hsa-miR-3170	CLIP-seq
MIRT906738	hsa-miR-3675-5p	CLIP-seq
MIRT906739	hsa-miR-4306	CLIP-seq
MIRT906740	hsa-miR-4531	CLIP-seq
MIRT906741	hsa-miR-4644	CLIP-seq
MIRT906742	hsa-miR-620	CLIP-seq
MIRT906743	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0001786	Function	Phosphatidylserine binding	ISS
GO:0005509	Function	Calcium ion binding	TAS	9645480
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:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	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	IEA
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IEA
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003

Other IDs

• MIM: 605688
• HGNC: 2319
• e!Ensembl: ENSG00000100884

Protein

• UniProt ID: O95741
• Protein name: Copine-6 (Copine VI) (Neuronal-copine) (N-copine)
• Protein function: Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. Binds phospholipid membranes in a calcium-dependent manner (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	22 → 129	C2 domain	Domain
  PF00168	C2	155 → 262	C2 domain	Domain
  PF07002	Copine	325 → 542	Copine	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in the brain (PubMed:10403379, PubMed:12949241, PubMed:9645480). Expressed weakly in the kidney, liver and fetal heart (PubMed:12949241). Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:10403379, ECO:00
• Sequence:

  MSDPEMGWVPEPPTMTLGASRVELRVSCHGLLDRDTLTKPHPCVLLKLYSDEQWVEVERT
  EVLRSCSSPVFSRVLALEYFFEEKQPLQFHVFDAEDGATSPRNDTFLGSTECTLGQIVSQ
  TKVTKPLLLKNGKTAGKSTITIVAEEVSGTNDYVQLTFRAYKLDNKDLFSKSDPFMEIYK
  TNEDQSDQLVWRTEVVKNNLNPSWEPFRLSLHSLCSCDVHRPLKFLVYDYDSSGKHDFIG
  EFTSTFQEMQEGTANPGQEMQWDCINPKYRDKKKNYKSSGTVVLAQCTVEKVHTFLDYIM
  GGCQISFTVAIDFTASNGDPRSSQSLHCLSPRQPNHYLQALRAVGGICQDYDSDKRFPAF
  GFGARIPPNFEVSHDFAINFDPENPECEEISGVIASYRRCLPQIQLYGPTNVAPIINRVA
  EPAQREQSTGQATKYSVLLVLTDGVVSDMAETRTAIVRASRLPMSIIIVGVGNADFSDMR
  LLDGDDGPLRCPRGVPAARDIVQFVPFRDFKDAAPSALAKCVLAEVPRQVVEYYASQGIS
  PGAPRPCTLATTPSPSP

• Sequence length: 557

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
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	26517091	★☆☆☆☆ Found in Text Mining only
Dementia	Associate	26517091	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Associate	26517091	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	30356407	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Associate	26517091	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	33780365	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	10403379	★☆☆☆☆ Found in Text Mining only