NUP107

Chr 12

nucleoporin 107

Also known as: GAMOS7, NPHS11, NUP84, ODG6, ODG6; GAMOS7

NCBI Gene: 57122 ENSG00000111581 UniProt: P57740

The protein is an essential component of the nuclear pore complex that controls molecular transport between the nucleus and cytoplasm and is involved in kidney development. Mutations cause autosomal recessive conditions including Galloway-Mowat syndrome, nephrotic syndrome, and ovarian dysgenesis, primarily affecting the kidneys and reproductive system. The gene is highly intolerant to loss-of-function variants (LOEUF 0.57), indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephrotic syndrome 11

UniProtOvarian dysgenesis 6

UniProtGalloway-Mowat syndrome 7

Clinical highlights

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)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

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