EGFLAM

Chr 5p13.2-p13.1

EGF like, fibronectin type III and laminin G domains

Aliases:: FLJ39155, AGRINL, AGRNL, PIKA
MANE:: ENST00000322350.10

OMIM: 617683 ↗NCBI: 133584 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EGFLAM · Q63HQ2

v62025-08-01

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

Mean pLDDT

80.6/ 100

Confident

1,017 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)31%
Low(50–70)5%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mathematical ability
0.41
cataract
0.34
smoking initiation
0.33
trauma complication
0.33
asthma
0.32
ovarian neoplasm
0.32
bone Paget disease
0.26
Alzheimer disease
0.26
ovarian dysfunction
0.26
jaw disease
0.26

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

Protein function (UniProt)

Pikachurin

Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Plays a key role in the synaptic organization of photoreceptors by mediating transsynaptic interaction between alpha-dystroglycan and GPR179 on the postsynaptic membrane. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness