AlphaFold predicted structure
RAPSN · Q13702
Mean pLDDT
93.2/ 100
Very high
412 residues
Confidence breakdown
- Very high(≥ 90)82%
- Confident(70–90)15%
- Low(50–70)3%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
RAPSN
Chr 11p11.2receptor associated protein of the synapse
- Aliases:
- RNF205, CMS1D, CMS1E
- MANE:
- ENST00000298854.7
Annotations refreshed 11 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalCongenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalIUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomalLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomalMonogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Congenital myasthenic syndromes
0.79fetal akinesia deformation sequence 1
0.77fetal akinesia deformation sequence
0.60congenital myasthenic syndrome
0.56Postsynaptic congenital myasthenic syndromes
0.47hydrops fetalis
0.43hereditary disease
0.41arthrogryposis multiplex congenita
0.41postsynaptic congenital myasthenic syndrome
0.38congenital myasthenic syndrome, dominant/recessive
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
43 kDa receptor-associated protein of the synapse
Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin
Diseases associated with RAPSN
Curated MONDO disease pages that list RAPSN among their top associated genes.