ELFN1

Chr 7p22.3

extracellular leucine rich repeat and fibronectin type III domain containing 1

MANE:: ENST00000424383.5

OMIM: 614964 ↗NCBI: 392617 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ELFN1 · P0C7U0

v62025-08-01

Predicted Aligned Error matrix for ELFN1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.8/ 100

Low

828 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)18%
Low(50–70)15%
Very low(< 50)43%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder
0.47
smoking initiation
0.36
Increased blood pressure
0.34
iron metabolism disease
0.28
diverticular disease
0.28
viral infectious disease
0.24
bile duct disorder
0.23
smoking behavior
0.21
complication
0.19
trauma complication
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein ELFN1

Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes