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TTC12 (Tetratricopeptide Repeat Domain 12) is a Protein Coding gene. Diseases associated with TTC12 include Ciliary Dyskinesia, Primary, 45 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is RPAP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005813 | centrosome | IDA | 23300604 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | |||||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TTC12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TTC12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TTC12 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ttc12 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ttc12 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TTC12 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | TTC12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TTC12 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ttc12 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ttc12 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG34297 31 |
|
OneToMany | |
CG6980 31 |
|
OneToMany | |||
CG31294 31 |
|
OneToMany | |||
CG34274 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SGT2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
816690 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 45 | 113,360,011(+) | A/T | INTRON_VARIANT | |
816691 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 45 | 113,362,464(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
816692 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 45 | 113,338,801(+) | GA/G | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
816693 | Pathogenic: CILIARY DYSKINESIA, PRIMARY, 45 | 113,362,486(+) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs35303225 | - | p.Val563Ala |
Disorder | Aliases | PubMed IDs |
---|---|---|
ciliary dyskinesia, primary, 45 |
|
|
primary ciliary dyskinesia |
|
|
heroin dependence |
|
|
drug dependence |
|
|
exhibitionism |
|
|