DAG1

Chr 3p21.31

dystroglycan 1

Aliases:: A3a, 156DAG, AGRNR, DAG
MANE:: ENST00000308775.7

OMIM: 128239 ↗NCBI: 1605 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DAG1 · Q14118

v62025-08-01

Predicted Aligned Error matrix for DAG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.2/ 100

Low

895 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)21%
Low(50–70)10%
Very low(< 50)38%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
Unknown
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal

+6 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

autosomal recessive limb-girdle muscular dystrophy type 2P
0.79
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
0.74
congenital muscular dystrophy
0.50
congenital muscular dystrophy due to LMNA mutation
0.50
limb-girdle muscular dystrophy
0.47
muscular dystrophy-dystroglycanopathy, type A
0.47
autosomal recessive limb-girdle muscular dystrophy type 2U
0.46
neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
0.40
isolated asymptomatic elevation of creatine phosphokinase
0.38
muscle-eye-brain disease with bilateral multicystic leucodystrophy
0.38

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

Protein function (UniProt)

Dystroglycan 1

The dystroglycan complex is involved in a number of signaling events and processes including laminin deposition and extracellular matrix assembly, acetylcholine receptor clustering, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, epithelial polarization, and epithelium branching morphogenesis (By similarity). Required for the formation of photoreceptor ribbon synapses, and long-term maintenance of inhibitory synapses in cerebellar Purkinje cells (By similarity). Also involved in the positive regulation of cartilage formation through agrin (AGRN) binding and up-regulation of SOX9, a transcription factor that plays a key role in chondrocytes differentiation (PubMed:26290588)