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C2CD5 (C2 Calcium Dependent Domain Containing 5) is a Protein Coding gene. Diseases associated with C2CD5 include Koolen-De Vries Syndrome. Among its related pathways are Translocation of GLUT4 to the plasma membrane and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA,IDA | 21907143 |
GO:0005544 | calcium-dependent phospholipid binding | IEA,IDA | 21907143 |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IBA,IDA | 21907143 |
GO:0005938 | cell cortex | IEA,IDA | 21907143 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Translocation of GLUT4 to the plasma membrane |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006906 | vesicle fusion | IEA | -- |
GO:0010828 | positive regulation of glucose transmembrane transport | IBA,ISS | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0031340 | positive regulation of vesicle fusion | IEA,IMP | 21907143 |
GO:0032869 | cellular response to insulin stimulus | IEA,IDA | 21907143 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | |||||||||||||||||||||
SP5: | |||||||||||||||||||||
SP6: | |||||||||||||||||||||
SP7: | |||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C2CD5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C2CD5 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | C2CD5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C2CD5 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C2CD5 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | C2cd5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | C2cd5 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C2CD5 31 |
|
OneToOne | |
KIAA0528 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | C2CD5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c2cd5 30 |
|
||
Str.17756 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398515 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | C2CD5 (1 of 2) 31 |
|
OneToMany | |
LOC100333813 30 |
|
||||
C2CD5 (2 of 2) 31 |
|
OneToMany | |||
zgc63659 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6454 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001475 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F52H2.7 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7205 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759883 | CNV | gain+loss | 17122850 |
esv3580189 | CNV | loss | 25503493 |
nsv1038357 | CNV | loss | 25217958 |
nsv469166 | CNV | loss | 19166990 |
nsv507632 | OTHER | sequence alteration | 20534489 |
nsv557756 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
koolen-de vries syndrome |
|
|