GON4L

Chr 1AR

gon-4 like

Also known as: GON-4, GON4, LTMS, YARP

NCBI Gene: 54856 ENSG00000116580 UniProt: Q3T8J9 OMIM: 610393

GON4L encodes a transcription regulator that activates histone gene transcription and is required for B-cell development. Mutations cause Li-Takada-Miyake syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.30), indicating intolerance to disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within B cell differentiation. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Li-Takada-Miyake syndromeMIM #621212

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P