AlphaFold predicted structure
HDAC8 · Q9BY41
Mean pLDDT
95.3/ 100
Very high
377 residues
Confidence breakdown
- Very high(≥ 90)92%
- Confident(70–90)4%
- Low(50–70)1%
- Very low(< 50)3%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
HDAC8
Chr Xq13.1histone deacetylase 8
- Aliases:
- RPD3, KDAC8
- MANE:
- ENST00000373573.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)IUGR and IGF abnormalities
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Limb disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Radial dysplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Severe microcephaly
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
+2 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Cornelia de Lange syndrome
0.83Wilson-Turner syndrome
0.60neoplasm
0.55plasma cell myeloma
0.55hereditary disease
0.53Duchenne muscular dystrophy
0.52peripheral T-cell lymphoma, not otherwise specified
0.52Intellectual disability
0.50mature T-cell and NK-cell non-Hodgkin lymphoma
0.50primary cutaneous T-cell non-Hodgkin lymphoma
0.49
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Histone deacetylase 8
Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:14701748). Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin (PubMed:22885700). May play a role in smooth muscle cell contractility (PubMed:15772115). In addition to protein deacetylase activity, also has protein-lysine deacylase activity: acts as a protein decrotonylase by mediating decrotonylation ((2E)-butenoyl) of histones (PubMed:28497810)