NUP188

Chr 9AR

nucleoporin 188

Also known as: KIAA0169, SANDSTEF, hNup188

NCBI Gene: 23511 ENSG00000095319 UniProt: Q5SRE5 OMIM: 615587

This protein is a component of the nuclear pore complex required for trafficking across the nuclear envelope and proper protein transport into the nucleus. Mutations cause Sandestig-Stefanova syndrome, which is inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, suggesting an essential cellular role.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Sandestig-Stefanova syndromeMIM #618804

Clinical highlights

Gene-disease validity (ClinGen)

sandestig-stefanova syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P