2. Gene
  3. GATAD2B - GATA zinc finger domain containing 2B Gene

GATAD2B - GATA zinc finger domain containing 2B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

GATAD2B Protein Structure

GATA

GATA: GATA zinc finger (420 - 453)

  • 0
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  • 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 / 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