AtlasGene
DAG1
dystroglycan 1
- HGNC 2666↗(opens in a new tab)
- Ensembl gene ENSG00000173402↗(opens in a new tab)
- NCBI Gene 1605↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p21.31
- Coordinates
- Chromosome 3: 49,470,267–49,535,615 (GRCh38)
- Exons
- 3 exons across 65.3 kb
- Protein
- 895 amino acids
- Also known as
- A3a, 156DAG, AGRNR, DAG
- MANE Select transcript
- ENST00000308775.7NM_004393.6
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
Congenital Muscular Dystrophies
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- 3 GenCC submitters rate it definitive or strong
Congenital Disorders of Glycosylation
- Alpha-DystroglycanopathiesAutosomal recessive
Muscle diseases caused by faulty sugar attachment (O-mannosylation) to alpha-dystroglycan, ranging from severe congenital muscular dystrophy with brain and eye involvement to milder limb-girdle weakness; also covered in more detail in the Congenital Muscular Dystrophies report.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- 2 GenCC submitters rate it definitive or strong
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- 2 GenCC submitters rate it definitive or strong
How DAG1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 65.3 kb; 2,688 of those bases code for the protein.
Sequencing DAG1
1Low
How hard DAG1 is to sequence with short reads, out of 100Each bar is the share of DAG1's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.2.9%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.3.1%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
10
positions in DAG1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 65.3 kb of DAG1, introns included, not only the 5.4 kb of exons.
Genes linked to the same conditions
- FKRPfukutin related proteinShares 4 conditions
- FKTNfukutinShares 4 conditions
- GMPPBGDP-mannose pyrophosphorylase BShares 4 conditions
- CRPPACDP-L-ribitol pyrophosphorylase AShares 3 conditions
- POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Shares 3 conditions
- POMT1protein O-mannosyltransferase 1Shares 3 conditions
- POMT2protein O-mannosyltransferase 2Shares 3 conditions
- COL6A1collagen type VI alpha 1 chainShares 2 conditions
- COL6A2collagen type VI alpha 2 chainShares 2 conditions
- COL6A3collagen type VI alpha 3 chainShares 2 conditions
- DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatoryShares 2 conditions
- DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatoryShares 2 conditions
Traits linked to DAG1
The Human Phenotype Ontology lists these as features of the rare conditions DAG1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Absent speech development
- Cerebellar vermis hypoplasia
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- More grooves in brain
- Underdevelopment of part of brain called corpus callosum
Show 29 more traits
- Unsteady walk
- Ventriculomegaly
- Abnormal cerebellar vermis morphology
- Abnormal cortical gyration
- Abnormality of neuronal migration
- Absent reflexes
- Decreased reflex response
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Small cerebellum
- Specific learning disability
- Too much cerebrospinal fluid in the brain
- Abnormal pons morphology
- Abnormal shape of brainstem
- Absent septum pellucidum
- Agenesis of corpus callosum
- Agyria
- Cerebellar cyst
- Delayed ability to sit
- Delayed ability to walk
- EEG with focal spike waves
- Intellectual disability, severe
- Leukodystrophy
- Motor delay
- Severe global developmental delay
- Waddling gait
- Epilepsy
- Intellectual disability, mild
- Poor speech
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). DAG1 gene: dystroglycan 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/dag1
Dante Labs. DAG1 gene: dystroglycan 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dag1
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