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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 trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
CPNE7 (Copine 7) is a Protein Coding gene. Diseases associated with CPNE7 include Giant Cell Glioblastoma. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transporter activity. An important paralog of this gene is CPNE4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005215 | transporter activity | TAS | 10534407 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005544 | calcium-dependent phospholipid binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 21087455 |
GO:0005737 | cytoplasm | IEA,IDA | 21087455 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | TAS | 10534407 |
GO:0046474 | glycerophospholipid biosynthetic process | TAS | -- |
GO:0071277 | cellular response to calcium ion | IDA | 21087455 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CPNE7 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CPNE7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CPNE7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cpne7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cpne7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CPNE7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CPNE7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CPNE7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cpne7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CPNE7 31 |
|
OneToOne | |
LOC564556 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | gem-4 31 |
|
ManyToMany | |
nra-1 31 |
|
ManyToMany | |||
Y73F8A.19 32 |
|
|
|||
cpna-5 31 |
|
ManyToMany | |||
cpna-4 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs28568523 | - | p.Arg397Gln | |||
rs35731090 | - | p.Lys507Glu | |||
rs3751682 | - | p.Pro633Leu | |||
rs455527 | - | p.Phe77Leu |
Disorder | Aliases | PubMed IDs |
---|---|---|
giant cell glioblastoma |
|
|