TIPRL

Chr 1

TOR signaling pathway regulator

Also known as: TIP, TIP41, TIPRL1

NCBI Gene: 261726 ENSG00000143155 UniProt: O75663

TIPRL encodes an inhibitory regulator of protein phosphatases PP2A, PP4, and PP6, which are critical enzymes involved in cellular signaling and DNA damage response pathways. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.34), indicating that complete loss of protein function is likely not tolerated in humans.

GeneReviews ResearchSummary from RefSeq, UniProt

TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]

GeneReviews 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

0.34

LOEUF· LoF intol.

—

Mechanism

📖

GeneReview available — TIPRL