UBAP2L

Chr 1

ubiquitin associated protein 2 like

Also known as: NEDLBF, NICE-4, NICE4

NCBI Gene: 9898 ENSG00000143569 UniProt: Q14157

UBAP2L encodes a protein that regulates stress granule assembly, recruits ubiquitination machinery to RNA polymerase II for DNA damage response, and is required for proper brain development and neocortex lamination. Mutations cause autosomal recessive neurodevelopmental disorders affecting brain development. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in binding activity of sperm to zona pellucida; positive regulation of stress granule assembly; and stress granule assembly. Acts upstream of or within hematopoietic stem cell homeostasis. Part of PcG protein complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.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

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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