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BTBD10 (BTB Domain Containing 10) is a Protein Coding gene. Diseases associated with BTBD10 include Progressive Myoclonus Epilepsy 1A and Progressive Myoclonus Epilepsy 3. An important paralog of this gene is KCTD20.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 21145461 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0042327 | positive regulation of phosphorylation | IEA,ISS | -- |
GO:0044342 | type B pancreatic cell proliferation | ISS | -- |
GO:1901215 | negative regulation of neuron death | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BTBD10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BTBD10 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BTBD10 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BTBD10 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BTBD10 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Btbd10 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Btbd10 30 |
|
||
Chicken (Gallus gallus) |
Aves | BTBD10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BTBD10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | btbd10 30 |
|
||
Str.11032 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4191 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | btbd10b 30 31 |
|
OneToOne | |
wufa12a08 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6042 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mri 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | snpc-1.4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5266 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2024 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34185489 | - | p.Thr145Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1053021 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
progressive myoclonus epilepsy 1a |
|
|
progressive myoclonus epilepsy 3 |
|
|