HNRNPF

Chr 10

heterogeneous nuclear ribonucleoprotein F

Also known as: HNRPF, OK/SW-cl.23, mcs94-1

NCBI Gene: 3185 ENSG00000169813 UniProt: P52597 OMIM: 601037

The protein is a heterogeneous nuclear ribonucleoprotein that binds G-rich sequences in pre-mRNAs and regulates alternative splicing events, keeping target RNA in an unfolded state for proper processing. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, following an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function mutations in the general population.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

OMIM 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

—

P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted