NABP2

Chr 12

nucleic acid binding protein 2

Also known as: OBFC2B, SOSS-B1, SSB1, hSSB1

NCBI Gene: 79035 ENSG00000139579 UniProt: Q9BQ15

NABP2 encodes a single-stranded DNA-binding protein that functions as a component of the SOSS complex, which promotes DNA repair and maintains genomic stability through homologous recombination and checkpoint signaling. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.27), but no definitive disease associations have been established from the provided information. Further clinical and genetic studies are needed to determine whether NABP2 mutations cause human disease.

ResearchSummary from RefSeq, UniProt

Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]

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)

—

P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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