HDAC4

Chr 2q37.3

histone deacetylase 4

Aliases:: KIAA0288, HDAC-A, HDACA, HD4, HA6116
MANE:: ENST00000543185.6

OMIM: 605314 ↗NCBI: 9759 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HDAC4 · P56524

v62025-08-01

Predicted Aligned Error matrix for HDAC4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.4/ 100

Low

1,084 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)14%
Low(50–70)9%
Very low(< 50)44%

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
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal
VACTERL-like phenotypes

Disease associations (Open Targets)

neurodevelopmental disorder with central hypotonia and dysmorphic facies
0.73
2q37 microdeletion syndrome
0.61
plasma cell myeloma
0.55
neoplasm
0.55
Duchenne muscular dystrophy
0.53
peripheral T-cell lymphoma, not otherwise specified
0.52
mature T-cell and NK-cell non-Hodgkin lymphoma
0.50
primary cutaneous T-cell non-Hodgkin lymphoma
0.49
T-cell non-Hodgkin lymphoma
0.48
neurodegenerative disease
0.43

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

Protein function (UniProt)

Histone deacetylase 4

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at 'Lys-77' leading to their preferential binding to co-chaperone STUB1 (PubMed:27708256)