Human Gene GATAD2B (ENST00000368655.5) from GENCODE V44
  Description: Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA. (from RefSeq NM_020699)
RefSeq Summary (NM_020699): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000368655.5
Gencode Gene: ENSG00000143614.11
Transcript (Including UTRs)
   Position: hg38 chr1:153,804,725-153,922,972 Size: 118,248 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr1:153,810,177-153,828,347 Size: 18,171 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:153,804,725-153,922,972)mRNA (may differ from genome)Protein (593 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: P66B_HUMAN
DESCRIPTION: RecName: Full=Transcriptional repressor p66-beta; AltName: Full=GATA zinc finger domain-containing protein 2B; AltName: Full=p66/p68;
FUNCTION: Has transcriptional repressor activity. Targets MBD3 to discrete loci in the nucleus.
SUBUNIT: Binds MBD2 and MBD3. Binds the MeCP1 complex.
SUBCELLULAR LOCATION: Nucleus. Note=Nuclear, in discrete foci.
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: CR1 is required for interaction with MBD3 and transcription repression.
DOMAIN: CR2 is required for localization to discrete loci in the nucleus.
SIMILARITY: Contains 1 GATA-type zinc finger.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GATAD2B
Diseases sorted by gene-association score: mental retardation, autosomal dominant 18* (1369), koolen-de vries syndrome (9), kleefstra syndrome (7), intellectual disability (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.15 RPKM in Brain - Cerebellum
Total median expression: 383.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.00241-0.332 Picture PostScript Text
3' UTR -1729.305452-0.317 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000679 - Znf_GATA
IPR013088 - Znf_NHR/GATA

Pfam Domains:
PF00320 - GATA zinc finger

ModBase Predicted Comparative 3D Structure on Q8WXI9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
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:0031492 nucleosomal DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0043044 ATP-dependent chromatin remodeling

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016607 nuclear speck
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  HW579424 - WO 2014097875-A/31: Conversion into pluripotent Stem cell using novel method to induce a dedifferentiation.
HW906589 - WO 2015030149-A/31: Cell anti-aging related biomolecules.
LQ520548 - Sequence 31 from Patent EP3040414.
AK094665 - Homo sapiens cDNA FLJ37346 fis, clone BRAMY2021310, highly similar to Transcriptional repressor p66 beta.
JD020611 - Sequence 1635 from Patent EP1572962.
JD029244 - Sequence 10268 from Patent EP1572962.
JD028568 - Sequence 9592 from Patent EP1572962.
AB032976 - Homo sapiens mRNA for KIAA1150 protein, partial cds.
AF411836 - Homo sapiens transcription repressor p66 mRNA, complete cds.
JD130792 - Sequence 111816 from Patent EP1572962.
JD433229 - Sequence 414253 from Patent EP1572962.
JD520164 - Sequence 501188 from Patent EP1572962.
JD113462 - Sequence 94486 from Patent EP1572962.
JD521980 - Sequence 503004 from Patent EP1572962.
JD314551 - Sequence 295575 from Patent EP1572962.
JD171235 - Sequence 152259 from Patent EP1572962.
JD562902 - Sequence 543926 from Patent EP1572962.
JD121551 - Sequence 102575 from Patent EP1572962.
JD149664 - Sequence 130688 from Patent EP1572962.
JD163735 - Sequence 144759 from Patent EP1572962.
JD520019 - Sequence 501043 from Patent EP1572962.
JD099554 - Sequence 80578 from Patent EP1572962.
JD498894 - Sequence 479918 from Patent EP1572962.
JD318417 - Sequence 299441 from Patent EP1572962.
JD227490 - Sequence 208514 from Patent EP1572962.
JD277165 - Sequence 258189 from Patent EP1572962.
JD192671 - Sequence 173695 from Patent EP1572962.
JD066224 - Sequence 47248 from Patent EP1572962.
JD123077 - Sequence 104101 from Patent EP1572962.
JD525579 - Sequence 506603 from Patent EP1572962.
JD311561 - Sequence 292585 from Patent EP1572962.
JD228070 - Sequence 209094 from Patent EP1572962.
JD501383 - Sequence 482407 from Patent EP1572962.
JD433298 - Sequence 414322 from Patent EP1572962.
JD566762 - Sequence 547786 from Patent EP1572962.
JD193221 - Sequence 174245 from Patent EP1572962.
JD541094 - Sequence 522118 from Patent EP1572962.
JD402903 - Sequence 383927 from Patent EP1572962.
JD271185 - Sequence 252209 from Patent EP1572962.
JD469621 - Sequence 450645 from Patent EP1572962.
JD544396 - Sequence 525420 from Patent EP1572962.
JD543430 - Sequence 524454 from Patent EP1572962.
JD050976 - Sequence 32000 from Patent EP1572962.
JD224163 - Sequence 205187 from Patent EP1572962.
JD355379 - Sequence 336403 from Patent EP1572962.
JD378623 - Sequence 359647 from Patent EP1572962.
JD272434 - Sequence 253458 from Patent EP1572962.
JD325742 - Sequence 306766 from Patent EP1572962.
JD515602 - Sequence 496626 from Patent EP1572962.
JD459712 - Sequence 440736 from Patent EP1572962.
JD051898 - Sequence 32922 from Patent EP1572962.
JD214294 - Sequence 195318 from Patent EP1572962.
JD195671 - Sequence 176695 from Patent EP1572962.
JD214241 - Sequence 195265 from Patent EP1572962.
JD048704 - Sequence 29728 from Patent EP1572962.
JD171151 - Sequence 152175 from Patent EP1572962.
JD082063 - Sequence 63087 from Patent EP1572962.
JD260982 - Sequence 242006 from Patent EP1572962.
JD424018 - Sequence 405042 from Patent EP1572962.
JD095853 - Sequence 76877 from Patent EP1572962.
JD227527 - Sequence 208551 from Patent EP1572962.
BC112052 - Homo sapiens GATA zinc finger domain containing 2B, mRNA (cDNA clone MGC:138257 IMAGE:8327520), complete cds.
BC112080 - Homo sapiens GATA zinc finger domain containing 2B, mRNA (cDNA clone MGC:138285 IMAGE:8327548), complete cds.
JD166543 - Sequence 147567 from Patent EP1572962.
BC069419 - Homo sapiens GATA zinc finger domain containing 2B, mRNA (cDNA clone MGC:97079 IMAGE:7262291), complete cds.
JD288944 - Sequence 269968 from Patent EP1572962.
JD515900 - Sequence 496924 from Patent EP1572962.
KJ894428 - Synthetic construct Homo sapiens clone ccsbBroadEn_03822 GATAD2B gene, encodes complete protein.
EU446499 - Synthetic construct Homo sapiens clone IMAGE:100070148; IMAGE:100011708; FLH257523.01L GATA zinc finger domain containing 2B (GATAD2B) gene, encodes complete protein.
AB489149 - Synthetic construct DNA, clone: pF1KA1150, Homo sapiens GATAD2B gene for GATA zinc finger domain containing 2B, without stop codon, in Flexi system.
CU686798 - Synthetic construct Homo sapiens gateway clone IMAGE:100022641 5' read GATAD2B mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WXI9 (Reactome details) participates in the following event(s):

R-HSA-427404 Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene
R-HSA-8943780 SALL4 recruits NuRD to PTEN gene
R-HSA-6805650 MTA2-NuRD complex deacetylates TP53
R-HSA-427336 TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9.
R-HSA-3769447 HDAC1/2 containing-complexes deacetylate histones
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-6807070 PTEN Regulation
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-3214815 HDACs deacetylate histones
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-74160 Gene expression (Transcription)
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-4839726 Chromatin organization
R-HSA-162582 Signal Transduction
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription

-  Other Names for This Gene
  Alternate Gene Symbols: D3DUZ2, ENST00000368655.1, ENST00000368655.2, ENST00000368655.3, ENST00000368655.4, KIAA1150, NM_020699, P66B_HUMAN, Q5VUR2, Q7LG68, Q8WXI9, Q9ULS0, uc001fdb.1, uc001fdb.2, uc001fdb.3, uc001fdb.4, uc001fdb.5, uc001fdb.6
UCSC ID: ENST00000368655.5
RefSeq Accession: NM_020699
Protein: Q8WXI9 (aka P66B_HUMAN)
CCDS: CCDS1054.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.