GATAD2B - GATA zinc finger domain containing 2B Gene

Also Known as p68; GANDS; MRD18; P66beta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57459

About GATAD2B

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,804,725-153,922,972 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 226 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 8.8), spleen (RPKM 5.8) and 25 other tissues.

Summary

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 Products (1)

mRNA	Protein	Name
NM_020699.4	NP_065750.1	transcriptional repressor p66-beta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24722188	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	9790534	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of NuRD complex	IDA IDA: Inferred from direct assay	33283408	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	25150861	GOA
located in nucleus	IDA IDA: Inferred from direct assay	27732854	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GATAD2B Protein Structure

GATA

0
100
200
300
400
500
593 a.a.

Protein Preferred Names	Protein Names
transcriptional repressor p66-beta	GATA zinc finger domain-containing protein 2B

GATAD2B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GATAD2B	Q8WXI9	NGB	Homo sapiens	Q9NPG2	Validated Y2H	32296183
Intra	GATAD2B	Q8WXI9	PRKAB2	Homo sapiens	O43741	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	MBD3	Homo sapiens	O95983	Anti Tag CoIP	33961781
Intra	GATAD2B	Q8WXI9	MBD3	Homo sapiens	O95983	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	ZBTB7A	Homo sapiens	O95365	Anti Bait CoIP	26816381
Intra	GATAD2B	Q8WXI9	GPSM3	Homo sapiens	Q9Y4H4	Validated Y2H	32296183
Intra	GATAD2B	Q8WXI9	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	GATAD2B	Q8WXI9	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	CEP70	Homo sapiens	Q8NHQ1	Validated Y2H	25416956
Intra	GATAD2B	Q8WXI9	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	25416956
Intra	GATAD2B	Q8WXI9	USHBP1	Homo sapiens	Q8N6Y0	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	TEX11	Homo sapiens	Q8IYF3	Y2H Prey Pooling	25416956
Intra	GATAD2B	Q8WXI9	TEX11	Homo sapiens	Q8IYF3	Y2H Array	25416956
Intra	GATAD2B	Q8WXI9	NME7	Homo sapiens	Q9Y5B8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Gand Syndrome	Mrd18 GAND Mental Retardation, Autosomal Dominant 18 Autosomal Dominant Non-Syndromic Intellectual Disability 18 Autosomal Dominant Intellectual Developmental Disorder 18 Autosomal Dominant Mental Retardation 18
Gatad2b-Associated Neurodevelopmental Disorder	Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 43	MRD43 Autosomal Dominant Non-Syndromic Intellectual Disability 43 Autosomal Dominant Intellectual Developmental Disorder 43 Autosomal Dominant Mental Retardation 43
Macular Dystrophy, Patterned, 2	Patterned Macular Dystrophy 2 MDPT2 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Butterfly-Shaped Pigmentary Maculary Dystrophy 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P10326	Z-ATAD-FMK	Inhibitor	/	Unkown
HY-RS05297	GATAD2B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GATAD2B	VGNC	VGNC:62478
Macaca mulatta	GATAD2B	VGNC	VGNC:72812
Bos taurus	GATAD2B	VGNC	VGNC:29272
Canis familiaris	GATAD2B	VGNC	VGNC:41127
Mus musculus	GATAD2B	MGD	MGI:2443225
Rattus norvegicus	GATAD2B	RGD	RGD:1308533
Others	GATAD2B	NCBI