PHF21A

Chr 11p11.2

PHD finger protein 21A

Aliases:: BHC80, KIAA1696, BM-006
MANE:: ENST00000676320.1

OMIM: 608325 ↗NCBI: 51317 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PHF21A · Q96BD5

v62025-08-01

Predicted Aligned Error matrix for PHF21A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.1/ 100

Low

680 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)12%
Low(50–70)7%
Very low(< 50)59%

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, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with macrocephaly and with or without seizures
0.75
Potocki-Shaffer syndrome
0.56
neurodegenerative disease
0.55
hereditary disease
0.53
Intellectual disability
0.44
peeling skin syndrome
0.37
complex neurodevelopmental disorder
0.37
deep vein thrombosis
0.35
thrombophilia
0.34
Thromboembolism
0.33

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

Protein function (UniProt)

PHD finger protein 21A

Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation