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This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]
GATAD2B (GATA Zinc Finger Domain Containing 2B) is a Protein Coding gene. Diseases associated with GATAD2B include Mental Retardation, Autosomal Dominant 18 and Meninges Sarcoma. Among its related pathways are Regulation of TP53 Activity through Acetylation and Chromatin organization. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GATAD2A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | contributes_to RNA polymerase II proximal promoter sequence-specific DNA binding | HDA | 16217013 |
GO:0005515 | protein binding | IPI | 24722188 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0031492 | contributes_to nucleosomal DNA binding | HDA | 16217013 |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | HDA | 16217013 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0016581 | NuRD complex | IBA | 21873635 |
GO:0016607 | nuclear speck | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0043044 | ATP-dependent chromatin remodeling | HDA | 16217013 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GATAD2B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GATAD2B 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GATAD2B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gatad2b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gatad2b 30 |
|
||
Dog (Canis familiaris) |
Mammalia | GATAD2B 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GATAD2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GATAD2B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100486823 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gatad2b 30 |
|
||
ndufa13 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | simj 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | dcp-66 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3981 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638011 | Pathogenic: Mental retardation, autosomal dominant 18 | 153,828,162(-) | CT/C | FRAMESHIFT_VARIANT | |
638585 | Pathogenic: Mental retardation, autosomal dominant 18 | 153,818,098(-) | TTAGA/T | FRAMESHIFT_VARIANT | |
666293 | Likely Pathogenic: Mental retardation, autosomal dominant 18 | 153,818,790(-) | C/T | SPLICE_DONOR_VARIANT | |
713589 | Likely Benign: not provided | 153,810,279(-) | G/A | SYNONYMOUS_VARIANT | |
725557 | Benign: not provided | 153,817,420(-) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3578196 | CNV | loss | 25503493 |
esv3587594 | CNV | loss | 21293372 |
esv3587595 | CNV | loss | 21293372 |
esv3587596 | CNV | loss | 21293372 |
nsv1078969 | CNV | deletion | 25765185 |
nsv1120199 | CNV | tandem duplication | 24896259 |
nsv1130976 | CNV | deletion | 24896259 |
nsv476590 | CNV | novel sequence insertion | 20440878 |
nsv547941 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal dominant 18 |
|
|
meninges sarcoma |
|
|
koolen-de vries syndrome |
|
|