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This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
ANKRD12 (Ankyrin Repeat Domain 12) is a Protein Coding gene. Diseases associated with ANKRD12 include Mitochondrial Complex I Deficiency, Nuclear Type 1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANKRD12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANKRD12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ANKRD12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ankrd12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ankrd12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ANKRD12 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ANKRD12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ANKRD12 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | ankrd12 31 |
|
OneToOne | |
wufi16c02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10984 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs864622035 | Uncertain Significance: Malignant tumor of prostate | 9,255,860(+) | G/T | MISSENSE_VARIANT | |
rs17498752 | - | p.Thr507Ile | |||
rs2298546 | - | p.Ser818Asn | |||
rs2298548 | - | p.Pro277Ala | |||
rs34996750 | - | p.Leu998Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 1 |
|
|