PRDM5

Chr 4

PR/SET domain 5

Also known as: BCS2, PFM2

NCBI Gene: 11107 ENSG00000138738 UniProt: Q9NQX1

PRDM5 encodes a transcription factor that represses gene expression through recruitment of histone methyltransferases and deacetylases, and regulates expression of extracellular matrix proteins including fibrillar collagens. Mutations cause brittle cornea syndrome 2, an autosomal recessive connective tissue disorder characterized by fragile corneas and associated ocular abnormalities. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBrittle cornea syndrome 2

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PRDM5