HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DTNA
dystrobrevin alpha
Chromosome 18 · 18q12.1
NCBI Gene: 1837Ensembl: ENSG00000134769HGNC: HGNC:3057UniProt: A0A7P0T9L1
103PubMed Papers
22Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein-containing complexcell junctionplasma membraneatrial fibrillationmathematical abilitymyopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1muscular dystrophy
✦AI Summary

DTNA encodes α-dystrobrevin, a component of the dystrophin-glycoprotein complex (DGC) that plays critical roles in muscle membrane stability and synaptic function 1. The protein binds to dystrophin/utrophin and α-syntrophin, forming the core of a large membrane-bound complex essential for muscle fiber integrity 12. Mechanistically, α-dystrobrevin helps maintain the structural organization of the DGC, with variants in its coiled-coil domain disrupting interactions with syntrophin and causing reduced immunoreactivity of multiple DGC proteins including dystrophin and sarcoglycans 1. Disease-wise, monoallelic DTNA variants cause a dominantly inherited muscular dystrophy characterized by myalgia, exercise intolerance, elevated serum creatine kinase, and variable proximal muscle weakness 1. The gene is also associated with left ventricular non-compaction cardiomyopathy, where regulatory variants show significant enrichment in early-onset cases 34. Additionally, DTNA variants have been identified in familial Ménière's disease, with knockdown studies in Drosophila demonstrating defective proprioception and auditory function 56. Clinically, DTNA-related disorders show variable penetrance and may present with autism spectrum disorders or learning disabilities in some patients 1.

Sources cited
1
DTNA encodes α-dystrobrevin, causes dominantly inherited muscular dystrophy, and disrupts DGC protein interactions
PMID: 36799992
2
α-dystrobrevin forms the core of membrane-bound complexes with dystrophin
PMID: 11305946
3
DTNA regulatory variants are enriched in early-onset cardiomyopathy
PMID: 35288587
4
DTNA is linked to left ventricular non-compaction cardiomyopathy
PMID: 19057090
5
DTNA knockdown in Drosophila causes defective proprioception and auditory function
PMID: 37865853
6
DTNA variants are associated with familial Ménière's disease
PMID: 31874721
Disease Associationsⓘ22
atrial fibrillationOpen Targets
0.44Moderate
mathematical abilityOpen Targets
0.43Moderate
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1Open Targets
0.42Moderate
muscular dystrophyOpen Targets
0.37Weak
dilated cardiomyopathyOpen Targets
0.33Weak
left ventricular noncompactionOpen Targets
0.32Weak
Meniere diseaseOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.29Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
nevusOpen Targets
0.28Weak
hamartomaOpen Targets
0.28Weak
non-neoplastic nevusOpen Targets
0.28Weak
cardiac arrhythmiaOpen Targets
0.27Weak
Noncompaction cardiomyopathyOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.21Weak
Left ventricular noncompaction cardiomyopathyOpen Targets
0.17Weak
familial hypertrophic cardiomyopathyOpen Targets
0.16Weak
hypertrophic cardiomyopathyOpen Targets
0.13Weak
congenital heart diseaseOpen Targets
0.12Weak
ventricular tachycardiaOpen Targets
0.12Weak
Left ventricular non-compaction 1UniProt
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2UniProt
Pathogenic Variants1
NM_001386795.1(DTNA):c.1666G>A (p.Glu556Lys)Pathogenic
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
☆☆☆☆2024→ Residue 556
View on ClinVar ↗
Related Genes
ADRA1DProtein interaction98%DAG1Protein interaction98%DMDProtein interaction98%SNTA1Protein interaction98%SGCDProtein interaction97%SGCAProtein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
70%
Ovary
6%
Lung
5%
Liver
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
DTNAADRA1DDAG1DMDSNTA1SGCDSGCA
PROTEIN STRUCTURE
Preparing viewer…
PDB2E5R · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.52Moderately Constrained
pLIⓘ
0.40Tolerant
Observed/Expected LoF0.40 [0.32–0.52]
RankingsWhere DTNA stands among ~20K protein-coding genes
  • #4,642of 20,598
    Most Researched103 · top quartile
  • #4,874of 5,498
    Most Pathogenic Variants1
  • #3,241of 17,882
    Most Constrained (LOEUF)0.52 · top quartile
Genes detectedDTNA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epidemiology and genetics of Meniere's disease.
PMID: 37865853
Curr Opin Neurol · 2024
1.00
2
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
PMID: 35288587
NPJ Genom Med · 2022
0.90
3
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
PMID: 36799992
Acta Neuropathol · 2023
0.80
4
Left ventricular noncompaction.
PMID: 19057090
Circ J · 2009
0.70
5
Dystrophins and dystrobrevins.
PMID: 11305946
Genome Biol · 2001
0.60