AlphaFold predicted structure
ADGRL1 · O94910
Mean pLDDT
69.6/ 100
Low
1,474 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)28%
- Low(50–70)7%
- Very low(< 50)31%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ADGRL1
Chr 19p13.12adhesion G protein-coupled receptor L1
- Aliases:
- KIAA0821, CIRL1, LEC2
- MANE:
- ENST00000361434.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
developmental delay, behavioral abnormalities, and neuropsychiatric disorders
0.70Global developmental delay
0.52hereditary disease
0.51attention deficit-hyperactivity disorder
0.50Intellectual disability
0.50Autistic behavior
0.49Specific learning disability
0.43Seizure
0.43complex neurodevelopmental disorder
0.37respiratory tract infectious disorder
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Adhesion G protein-coupled receptor L1
Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells (PubMed:35907405). Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity)
Diseases associated with ADGRL1
Curated MONDO disease pages that list ADGRL1 among their top associated genes.