InnateDB Protein
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IDBP-102797.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GATAD2B
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Protein Name
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GATA zinc finger domain containing 2B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000357644
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InnateDB Gene
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IDBG-102795 (GATAD2B)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus speckle {ECO:0000269PubMed:11756549, ECO:0000269PubMed:12183469, ECO:0000269PubMed:16415179}. Note=Speckled nuclear localization requires both CR1 and CR2 regions.
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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.
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Tissue Specificity |
Widely expressed. {ECO:0000269PubMed:12183469}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
48
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
10 [view]
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Molecular Function |
Accession |
GO Term |
GO:0000978
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RNA polymerase II core promoter proximal region sequence-specific DNA binding
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GO:0000980
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RNA polymerase II distal enhancer sequence-specific DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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GO:0005515
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protein binding
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GO:0008270
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zinc ion binding
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GO:0031492
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nucleosomal DNA binding
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GO:0043565
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sequence-specific DNA binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000679
Zinc finger, GATA-type
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PFAM |
PF00320
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PRINTS |
PR00619
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PIRSF |
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SMART |
SM00401
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WXI9
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PhosphoSite |
PhosphoSite-Q8WXI9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
57459
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UniGene |
Hs.596854
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RefSeq |
NP_065750
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HUGO |
HGNC:30778
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OMIM |
614998
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CCDS |
CCDS1054
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HPRD |
15094
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IMGT |
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EMBL |
AB032976
AF411836
AL513523
BC069419
BC112052
BC112080
CH471121
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GenPept |
AAH69419
AAI12053
AAI12081
AAL39080
BAA86464
CAH71425
EAW53270
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