NUP107

Chr 12q15

nucleoporin 107

Aliases:: NUP84
MANE:: ENST00000229179.9

OMIM: 607617 ↗NCBI: 57122 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NUP107 · P57740

v62025-08-01

Predicted Aligned Error matrix for NUP107 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.3/ 100

Confident

925 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)22%
Low(50–70)8%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Unexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Galloway-Mowat syndrome
0.67
nephrotic syndrome, type 11
0.62
familial idiopathic steroid-resistant nephrotic syndrome
0.55
46,XX gonadal dysgenesis
0.55
HIV infectious disease
0.54
influenza
0.54
viral infectious disease
0.53
hereditary disease
0.42
Histiocytosis
0.37
46 XX gonadal dysgenesis
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear pore complex protein Nup107

Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222)