KPTN

Chr 19

kaptin, actin binding protein

Also known as: 2E4, KICS4, MRT41

NCBI Gene: 11133 ENSG00000118162 UniProt: Q9Y664

This gene encodes a filamentous-actin-associated protein that functions as part of the KICSTOR complex to regulate mTORC1 signaling at lysosomes in response to amino acid availability. Mutations cause autosomal recessive intellectual developmental disorder (intellectual developmental disorder, autosomal recessive 41). The gene shows low constraint against loss-of-function variants (pLI near 0), consistent with its recessive inheritance pattern.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 41

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.81

LOEUF

LOF

Mechanism· G2P

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GeneReview available — KPTN