1. Gene
  2. CPNE6 - copine 6 Gene

CPNE6 - copine 6 Gene

Homo sapiens
Gene ID: 9362 | Gene type: protein coding

About CPNE6

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:24,070,949-24,078,087 (from NCBI)

This gene has 20 transcripts (splice variants), 1 gene allele, 193 orthologues and 8 paralogues. Biased expression in brain (RPKM 23.5), small intestine (RPKM 2.5) and 3 other tissues.

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, these proteins may play a role in membrane trafficking. This protein is thought to be brain-specific and has a domain structure of two N-terminal C2 domains and one von Willebrand factor A domain. It may have a role in synaptic plasticity. [provided by RefSeq, Jul 2013]

CPNE6 Products(5)

mRNA Protein Name
NM_001280558.2 NP_001267487.1 copine-6 isoform 1
NM_001385056.1 NP_001371985.1 copine-6 isoform 2
NM_001385057.1 NP_001371986.1 copine-6 isoform 2
NM_001385058.1 NP_001371987.1 copine-6 isoform 2
NM_006032.4 NP_006023.1 copine-6 isoform 2

CPNE6 Protein Structure

C2

C2: C2 domain (26 - 109)

C2

C2: C2 domain (158 - 242)

Copine

Copine: Copine (325 - 472)

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  • 557 a.a.
Protein Preferred Names Protein Names

copine-6

N-copine

Related Diseases

Diseases Alias
Vertebral Artery Occlusion

Occlusion And Stenosis Of Vertebral Artery

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CPNE6 VGNC VGNC:71468
Felis catus CPNE6 VGNC VGNC:61133
Rattus norvegicus CPNE6 RGD RGD:1583895
Bos taurus CPNE6 VGNC VGNC:27662
Canis familiaris CPNE6 VGNC VGNC:39565
Mus musculus CPNE6 MGD MGI:1334445