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ADNP2 (ADNP Homeobox 2) is a Protein Coding gene. Diseases associated with ADNP2 include Helsmoortel-Van Der Aa Syndrome and Retinitis Pigmentosa 58. An important paralog of this gene is ADNP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003674 | molecular_function | ND | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 21888893 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005575 | cellular_component | ND | -- |
GO:0005634 | nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0030182 | neuron differentiation | ISS | -- |
GO:0030307 | positive regulation of cell growth | ISS | -- |
GO:0034599 | cellular response to oxidative stress | ISS | -- |
GO:0060548 | negative regulation of cell death | ISS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - | - | |||||||||||||||
SP3: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADNP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ADNP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ADNP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Adnp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Adnp2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ADNP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ADNP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ADNP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adnp2 30 |
|
||
Str.12157 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17180 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | adnp2b 31 |
|
OneToMany | |
adnp2a 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3413n100 | CNV | gain | 25217958 |
dgv3414n100 | CNV | gain | 25217958 |
esv275287 | CNV | gain+loss | 21479260 |
esv3643326 | CNV | loss | 21293372 |
esv3643330 | CNV | loss | 21293372 |
esv3643331 | CNV | gain | 21293372 |
esv3643332 | CNV | loss | 21293372 |
esv3643333 | CNV | gain | 21293372 |
nsv1061450 | CNV | gain | 25217958 |
nsv1062512 | CNV | gain | 25217958 |
nsv1065902 | CNV | gain | 25217958 |
nsv1121958 | CNV | deletion | 24896259 |
nsv1160552 | CNV | duplication | 26073780 |
nsv428359 | CNV | gain | 18775914 |
nsv458317 | CNV | gain | 19166990 |
nsv577958 | CNV | gain | 21841781 |
nsv577970 | CNV | gain | 21841781 |
nsv828347 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
helsmoortel-van der aa syndrome |
|
|
retinitis pigmentosa 58 |
|
|
autosomal dominant non-syndromic intellectual disability |
|
|