DLG3

Chr Xq13.1

discs large MAGUK scaffold protein 3

Aliases:: NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232
MANE:: ENST00000374360.8

OMIM: 300189 ↗NCBI: 1741 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DLG3 · Q92796

v62025-08-01

Predicted Aligned Error matrix for DLG3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

817 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)20%
Low(50–70)3%
Very low(< 50)29%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
CAKUT
Unexplained kidney failure in young people
Unexplained young onset end-stage renal disease - additional genes
Unknown

Disease associations (Open Targets)

X-linked non-syndromic intellectual disability
0.74
hereditary disease
0.52
non-syndromic X-linked intellectual disability
0.46
Intellectual disability
0.45
X-linked intellectual disability, Siderius type
0.37
neurodegenerative disease
0.36
neurodevelopmental disorder
0.12
epilepsy
0.12
breast cancer
0.11
breast carcinoma
0.09

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

Protein function (UniProt)

MAGUK p55 subfamily member 3

Participates in cell spreading through the phosphoinositide-3-kinase (PI3K) pathway by connecting CADM1 to DLG1 and the regulatory subunit of phosphoinositide-3-kinase (PI3K) (PubMed:24503895). Stabilizes HTR2C at the plasma membrane and prevents its desensitization. May participates in the maintenance of adherens junctions (By similarity)