AlphaFold predicted structure
UNC50 · Q53HI1
Mean pLDDT
88.4/ 100
Confident
259 residues
Confidence breakdown
- Very high(≥ 90)73%
- Confident(70–90)17%
- Low(50–70)4%
- Very low(< 50)6%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
UNC50
Chr 2q11.2unc-50 inner nuclear membrane RNA binding protein
- Aliases:
- URP, UNCL, GMH1
- MANE:
- ENST00000357765.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodegenerative disease
0.55diverticular disease
0.26arthrogryposis multiplex congenita
0.22fetal akinesia deformation sequence 1
0.12neoplasm
0.08smoking initiation
0.07hepatocellular carcinoma
0.07hypothyroidism
0.05cancer
0.05celiac disease
0.04
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein unc-50 homolog
Involved in the cell surface expression of neuronal nicotinic receptors (By similarity). Binds RNA (By similarity)