PCGF2

Chr 17q12

polycomb group ring finger 2

Aliases:: MEL-18
MANE:: ENST00000620225.5

OMIM: 600346 ↗NCBI: 7703 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PCGF2 · P35227

v62025-08-01

Predicted Aligned Error matrix for PCGF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.3/ 100

Confident

344 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)8%
Low(50–70)14%
Very low(< 50)30%

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, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

turnpenny-fry syndrome
0.64
Intellectual disability
0.57
hereditary disease
0.45
Global developmental delay
0.44
Abnormal cerebral morphology
0.37
Abnormality of the cardiovascular system
0.37
Abnormality of the skeletal system
0.37
Abnormality of the outer ear
0.26
Abnormal pinna morphology
0.26
neurodegenerative disease
0.21

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

Protein function (UniProt)

Polycomb group RING finger protein 2

Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332)