Homo sapiens Protein: GATAD2B
Summary
InnateDB Protein IDBP-102797.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GATAD2B
Protein Name GATA zinc finger domain containing 2B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000357644
InnateDB Gene IDBG-102795 (GATAD2B)
Protein Structure
UniProt Annotation
Function Transcriptional repressor. Enhances MBD2-mediated repression. Efficient repression requires the presence of GATAD2A. Targets MBD3 to discrete loci in the nucleus. May play a role in synapse development. {ECO:0000269PubMed:12183469, ECO:0000269PubMed:16415179}.
Subcellular Localization Nucleus speckle {ECO:0000269PubMed:11756549, ECO:0000269PubMed:12183469, ECO:0000269PubMed:16415179}. Note=Speckled nuclear localization requires both CR1 and CR2 regions.
Disease Associations Mental retardation, autosomal dominant 18 (MRD18) [MIM:615074]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD18 patients have severe intellectual disability and dysmorphic features. {ECO:0000269PubMed:23033978, ECO:0000269PubMed:23644463}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:12183469}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 48 [view]
Protein-Protein 48 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0031492 nucleosomal DNA binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0043044 ATP-dependent chromatin remodeling
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0016607 nuclear speck
GO:0043234 protein complex
Protein Structure and Domains
PDB ID
InterPro IPR000679 Zinc finger, GATA-type
PFAM PF00320
PRINTS PR00619
PIRSF
SMART SM00401
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WXI9
PhosphoSite PhosphoSite-Q8WXI9
TrEMBL
UniProt Splice Variant
Entrez Gene 57459
UniGene Hs.596854
RefSeq NP_065750
HUGO HGNC:30778
OMIM 614998
CCDS CCDS1054
HPRD 15094
IMGT
EMBL AB032976 AF411836 AL513523 BC069419 BC112052 BC112080 CH471121
GenPept AAH69419 AAI12053 AAI12081 AAL39080 BAA86464 CAH71425 EAW53270