GATAD2B - GATA zinc finger domain containing 2B Gene

Homo sapiens

Also known as p68; GANDS; MRD18; P66beta

Gene ID: 57459 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24722188	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

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

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 Sets	/	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

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