CSTF2

Chr XXLR

cleavage stimulation factor subunit 2

Also known as: CSTF64, CstF-64, XLID113

NCBI Gene: 1478 ENSG00000101811 UniProt: P33240 OMIM: 300907

The protein is a component of the cleavage stimulation factor complex that binds GU-rich elements in pre-mRNAs and is required for 3'-end cleavage and polyadenylation of mammalian pre-mRNAs. Mutations cause X-linked intellectual developmental disorder with inheritance following an X-linked recessive pattern. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.133), indicating intolerance to protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Intellectual developmental disorder, X-linked 113MIM #301116

XLR

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

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted