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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DTNB
dystrobrevin beta
Chromosome 2 · 2p23.3
NCBI Gene: 1838Ensembl: ENSG00000138101.20HGNC: HGNC:3058UniProt: B7Z202
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneuron differentiationnucleuscytoplasmcutaneous melanomaalcohol drinkingautoimmune diseaseclonal hematopoiesis
✦AI Summary

DTNB (dystrobrevin beta) is a scaffolding protein that assembles DMD and SNTA1 molecules to the basal membrane of kidney cells and liver sinusoids. It functions as a repressor of the SYN1 promoter through binding of repressor element-1 (RE-1), regulating SYN1 expression and potentially involved in cell proliferation during early neural differentiation 1. DTNB may be required for proper maturation and function of inhibitory synapses. Mechanistically, DTNB participates in synaptic signaling and postsynaptic density organization through protein-binding interactions at the plasma membrane and within the nucleus and cytoplasm. Clinically, DTNB has emerged as disease-relevant in neurodegeneration. Rare variants in DTNB associate with Alzheimer's disease (AD) with genome-wide significance in region-based whole-genome sequencing analysis 2. Furthermore, rare variants in DTNB associate with an AD cerebrospinal fluid biomarker profile characterized by neuronal injury and inflammation, as indicated by elevated neurofilament light chain (NfL) and YKL-40 3. Mediation analysis suggests DTNB variants affect dementia symptoms via inflammation and injury pathways, potentially by altering cytoskeleton structure. These findings identify DTNB as a novel AD susceptibility gene linked to neuroinflammatory processes in neurodegeneration.

Sources cited
1
DTNB functions as a repressor of SYN1 promoter and is involved in cell proliferation regulation during neural differentiation
PMID: 27223470
2
DTNB genomic region associates with Alzheimer's disease through rare variants with genome-wide significance
PMID: 35246634
3
Rare variants in DTNB associate with AD biomarkers of neuronal injury and inflammation (NfL, YKL-40) with mediation effects on dementia symptoms
PMID: 35173266
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cutaneous melanomaOpen Targets
0.41Moderate
alcohol drinkingOpen Targets
0.31Weak
autoimmune diseaseOpen Targets
0.31Weak
clonal hematopoiesisOpen Targets
0.31Weak
enteritisOpen Targets
0.30Weak
COVID-19Open Targets
0.30Weak
severe acute respiratory syndromeOpen Targets
0.30Weak
stomach diseaseOpen Targets
0.28Weak
cerebrovascular disorderOpen Targets
0.26Weak
nevusOpen Targets
0.26Weak
hamartomaOpen Targets
0.26Weak
intestinal impactionOpen Targets
0.25Weak
multiple myelomaOpen Targets
0.25Weak
lung adenocarcinomaOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.25Weak
preeclampsiaOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
lymphoid neoplasmOpen Targets
0.16Weak
monoclonal gammopathyOpen Targets
0.16Weak
Hodgkins lymphomaOpen Targets
0.13Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SGCDProtein interaction97%SNTG2Protein interaction97%UTRNProtein interaction96%PPP1R21Protein interaction96%DTNBP1Protein interaction92%DAG1Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
48%
Ovary
34%
Liver
31%
Heart
24%
Lung
22%
Gene Interaction Network
Click a node to explore
DTNBSGCDSNTG2UTRNPPP1R21DTNBP1DAG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60941
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.62–0.94]
RankingsWhere DTNB stands among ~20K protein-coding genes
  • #7,260of 20,598
    Most Researched64
  • #8,688of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedDTNB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.
PMID: 35246634
Mol Psychiatry · 2022
1.00
2
Human dTMP kinase: gene expression and enzymatic activity coinciding with cell cycle progression and cell growth.
PMID: 8024690
DNA Cell Biol · 1994
0.90
3
Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation.
PMID: 35173266
Mol Psychiatry · 2022
0.80
4
AMP-deaminase from human uterine smooth muscle: the effect of DTNB treatment on kinetic and regulatory properties of the enzyme.
PMID: 8343524
Biochim Biophys Acta · 1993
0.70
5
Substrate and inhibitor specificities differ between human cytosolic and mitochondrial thioredoxin reductases: Implications for development of specific inhibitors.
PMID: 21172426
Free Radic Biol Med · 2011
0.60