CSRNP3

Chr 2

cysteine and serine rich nuclear protein 3

Also known as: FAM130A2, MBU1, PPP1R73, TAIP-2, TAIP2

NCBI Gene: 80034 ENSG00000178662 UniProt: Q8WYN3

CSRNP3 encodes a transcriptional activator that binds specific DNA sequences and promotes apoptosis. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and brain malformations. The gene shows high constraint against loss-of-function variants (LOEUF 0.445), indicating intolerance to inactivating mutations.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.45

LOEUF

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Mechanism

Some data sources returned errors (1)

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