GATAD2B (NM_020699) - GATA zinc finger domain containing 2B

Transcriptional Repressor P66-Beta

Mutations Visualisation

Protein summary

This is preferred isoform of GATAD2B protein.
GATAD2B: transcriptional repressor p66-beta
Description:

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 mental retardation. [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.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: AK094665.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]

Strand
-
Chromosome
1
Protein
593 residues
All mutations
77
PTM sites
33
CDS
153,782,652 - 153,800,823
Transcription
153,777,202 - 153,895,451
77.57% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 57459
Uniprot
Ensembl