PRDM5

Chr 4q27

PR/SET domain 5

Aliases:: PFM2
MANE:: ENST00000264808.8

OMIM: 614161 ↗NCBI: 11107 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PRDM5 · Q9NQX1

v62025-08-01

Predicted Aligned Error matrix for PRDM5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.3/ 100

Confident

630 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)56%
Low(50–70)18%
Very low(< 50)13%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Corneal abnormalities
BIALLELIC, autosomal or pseudoautosomal
Corneal dystrophy
BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

brittle cornea syndrome
0.78
Abnormality of the cardiovascular system
0.51
Connective tissue disease with eye involvement
0.50
osteoarthritis, knee
0.41
Ehlers-Danlos syndrome
0.41
smoking initiation
0.37
type 2 diabetes mellitus
0.35
osteoarthritis
0.34
alcohol drinking
0.31
DNA methylation
0.31

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

Protein function (UniProt)

PR domain zinc finger protein 5

Sequence-specific DNA-binding transcription factor. Represses transcription at least in part by recruitment of the histone methyltransferase EHMT2/G9A and histone deacetylases such as HDAC1. Regulates hematopoiesis-associated protein-coding and microRNA (miRNA) genes. May regulate the expression of proteins involved in extracellular matrix development and maintenance, including fibrillar collagens, such as COL4A1 and COL11A1, connective tissue components, such as HAPLN1, and molecules regulating cell migration and adhesion, including EDIL3 and TGFB2. May cause G2/M arrest and apoptosis in cancer cells

Curated MONDO disease pages that list PRDM5 among their top associated genes.

tooth disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with PRDM5