ZRANB2

Chr 1

zinc finger RANBP2-type containing 2

Also known as: ZIS, ZIS1, ZIS2, ZNF265

NCBI Gene: 9406 ENSG00000132485 UniProt: O95218

ZRANB2 encodes a splice factor that binds single-stranded RNA and is required for alternative splicing of specific transcripts, particularly those containing the consensus sequence 5'-AGGUAA-3'. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.18), but specific diseases associated with ZRANB2 mutations have not yet been established in the clinical literature. Given its essential role in RNA splicing and extreme constraint metrics, pathogenic variants would likely cause developmental abnormalities, though the inheritance pattern and clinical phenotype remain to be characterized.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Predicted to be involved in RNA splicing and mRNA processing. Located in nucleoplasm. [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

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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