NCLN

Chr 19p13.3

nicalin

Aliases:: NICALIN, NET59
MANE:: ENST00000246117.9

OMIM: 609156 ↗NCBI: 56926 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NCLN · Q969V3

v62025-08-01

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

Mean pLDDT

85.4/ 100

Confident

563 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)30%
Low(50–70)9%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Familial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

atrial fibrillation
0.24
Hirschsprung disease
0.18
femur fracture
0.07
COVID-19
0.06
hypothyroidism
0.06
severe acute respiratory syndrome
0.05
thyroid gland disorder
0.04
Hashimoto thyroiditis
0.03
gallbladder disorder
0.03
endometrial cancer
0.02

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

Protein function (UniProt)

BOS complex subunit NCLN

Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NOMO (By similarity)