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CCDC92 (Coiled-Coil Domain Containing 92) is a Protein Coding gene. Diseases associated with CCDC92 include Lipodystrophy, Familial Partial, Type 1 and Senior-Loken Syndrome 1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22458338 |
GO:0042802 | identical protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | -- |
GO:0005814 | centriole | IBA,IDA | 22863007 |
GO:0005856 | cytoskeleton | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | · | 10g | · | 10h |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC92 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCDC92 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCDC92 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CCDC92 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ccdc92 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ccdc92 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CCDC92 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CCDC92 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CCDC92 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ccdc92 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ccdc92 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7515 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11057401 | - |
p.Ser70Cys |
|||
rs17886730 | - |
p.Arg281His |
|||
rs35935939 | - |
p.Ala253Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1305470 | CNV | insertion | 17803354 |
esv3302753 | CNV | tandem duplication | 20981092 |
nsv1115971 | CNV | insertion | 24896259 |
nsv1116712 | CNV | tandem duplication | 24896259 |
nsv522321 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lipodystrophy, familial partial, type 1 |
|
|
senior-loken syndrome 1 |
|
|