AlphaFold predicted structure
LNPK · Q9C0E8
Mean pLDDT
67.6/ 100
Low
428 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)19%
- Low(50–70)12%
- Very low(< 50)39%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LNPK
Chr 2q31.1lunapark, ER junction formation factor
- Aliases:
- Ul, LNP1, LNP
- MANE:
- ENST00000272748.9
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
0.71Jaundice
0.25carpal tunnel syndrome
0.25multinodular goiter
0.23deficiency anemia
0.22arthropathy
0.21neurodevelopmental disorder
0.19Global developmental delay
0.19Intellectual disability
0.19Generalized hypotonia
0.18
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Endoplasmic reticulum junction formation protein lunapark
Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology (PubMed:30032983). Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network (PubMed:25404289). May be involved in limb development (By similarity). Is involved in central nervous system development (PubMed:30032983)