GATAD2B

Chr 1q21.3

GATA zinc finger domain containing 2B

Aliases:: P66beta
MANE:: ENST00000368655.5

OMIM: 614998 ↗NCBI: 57459 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GATAD2B · Q8WXI9

v62025-08-01

Predicted Aligned Error matrix for GATAD2B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.9/ 100

Low

593 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)25%
Low(50–70)16%
Very low(< 50)50%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy

Disease associations (Open Targets)

severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
0.78
hereditary disease
0.54
Intellectual disability
0.50
neurodegenerative disease
0.37
Alzheimer disease
0.24
Parkinson disease
0.23
lysosomal storage disease
0.23
multiple sclerosis
0.23
autism spectrum disorder
0.12
prostate carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcriptional repressor p66-beta

Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2A (PubMed:16415179). Targets MBD3 to discrete loci in the nucleus (PubMed:11756549). May play a role in synapse development (PubMed:23644463)