AlphaFold predicted structure
NRXN1 · P58400
Mean pLDDT
67.8/ 100
Low
472 residues
Confidence breakdown
- Very high(≥ 90)38%
- Confident(70–90)6%
- Low(50–70)17%
- Very low(< 50)40%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NRXN1
Chr 2p16.3neurexin 1
- Aliases:
- KIAA0578, Hs.22998
- MANE:
- ENST00000401669.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
Disease associations (Open Targets)
Pitt-Hopkins-like syndrome 2
0.73hereditary disease
0.52autism spectrum disorder
0.50Abnormality of the skeletal system
0.48chromosome 2p16.3 deletion syndrome
0.47complex neurodevelopmental disorder
0.44autism
0.42Intellectual disability
0.40major depressive disorder
0.38Pitt-Hopkins-like syndrome
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Neurexin-1-beta
Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins (By similarity). Plays a role in formation of synaptic junctions (By similarity). Functions as part of a trans-synaptic complex by binding to cerebellins and postsynaptic GRID1. This interaction helps regulate the activity of NMDA and AMPA receptors at hippocampal synapses without affecting synapse formation. NRXN1B-CBLN2-GRID1 complex transduce presynaptic signals into postsynaptic NMDAR response (By similarity)
Diseases associated with NRXN1
Curated MONDO disease pages that list NRXN1 among their top associated genes.