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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DTNBP1
dystrobrevin binding protein 1
Chromosome 6 Β· 6p22.3
NCBI Gene: 84062Ensembl: ENSG00000047579.20HGNC: HGNC:17328UniProt: A0A087WYP9
220PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingneuron projection developmentsynaptic vesicle membraneneuron projectionHermansky-Pudlak syndrome 7Hermansky-Pudlak syndrome type 7Hermansky-Pudlak syndromesquamous cell carcinoma
✦AI Summary

DTNBP1 (dystrobrevin binding protein 1) is a component of the BLOC-1 complex essential for biogenesis of lysosome-related organelles and synaptic function 1. The protein regulates synaptic vesicle trafficking, neurotransmitter release, and dopaminergic signaling in the prefrontal cortex and striatum 2. DTNBP1 facilitates activity-dependent BDNF secretion to maintain GABAergic inhibitory neurotransmission, and modulates dopamine D2 receptor surface expression and prefrontal cortical activity 1. Clinically, DTNBP1 variants are associated with schizophrenia susceptibility, though genetic evidence remains mixed 34. Schizophrenia patients exhibit significantly reduced dysbindin mRNA levels in the dorsolateral prefrontal cortex, and genetic variation in DTNBP1 affects cortical mRNA expression levels 5. In healthy subjects, DTNBP1 polymorphisms influence cognitive functions including memory and intelligence 6. DTNBP1 mutations also cause Hermansky-Pudlak syndrome type 7, and rare variants have been identified in intellectual disability cases 7. Epistatic interactions between DTNBP1 and COMT genes modulate dopaminergic signaling non-additively, suggesting complex genetic mechanisms in behavioral and cognitive phenotypes 2.

Sources cited
1
DTNBP1 is component of BLOC-1 complex; regulates synaptic vesicle trafficking, neurotransmitter release, and BDNF-mediated GABAergic transmission
PMID: 35815020
2
DTNBP1 modulates dopaminergic signaling in prefrontal cortex and striatum; epistatic interaction with COMT gene affects cognition and behavior
PMID: 37218669
3
Meta-analysis of DTNBP1 association with schizophrenia shows only weak association after multiple testing correction
PMID: 17604607
4
DTNBP1 not significantly associated with schizophrenia in Korean population; suggests genetic heterogeneity
PMID: 16959423
5
DTNBP1 mRNA significantly reduced in prefrontal cortex of schizophrenia patients; expression varies by genotype
PMID: 15184234
6
DTNBP1 SNP associated with memory and intelligence measures in healthy subjects
PMID: 19496996
7
DTNBP1 identified as candidate gene for intellectual disability in consanguineous families
PMID: 36344539
Disease Associationsβ“˜21
Hermansky-Pudlak syndrome 7Open Targets
0.69Moderate
Hermansky-Pudlak syndrome type 7Open Targets
0.58Moderate
Hermansky-Pudlak syndromeOpen Targets
0.58Moderate
squamous cell carcinomaOpen Targets
0.32Weak
schizophreniaOpen Targets
0.30Weak
pericarditisOpen Targets
0.28Weak
tympanic membrane diseaseOpen Targets
0.28Weak
tympanic membrane perforationOpen Targets
0.28Weak
hidradenitisOpen Targets
0.27Weak
sinusitisOpen Targets
0.27Weak
smoking initiationOpen Targets
0.27Weak
muscular diseaseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
portal hypertensionOpen Targets
0.19Weak
obesityOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.17Weak
idiopathic pulmonary fibrosisOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Glanzmann thrombasthenia 1Open Targets
0.06Suggestive
Hermansky-Pudlak syndrome 7UniProt
Pathogenic Variants15
NM_032122.5(DTNBP1):c.79_83del (p.Ser27fs)Pathogenic
not provided|Hermansky-Pudlak syndrome 7
β˜…β˜…β˜†β˜†2025β†’ Residue 27
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)Pathogenic
Hermansky-Pudlak syndrome 7|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)Pathogenic
Hermansky-Pudlak syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 150
NM_032122.5(DTNBP1):c.664C>T (p.Arg222Ter)Pathogenic
DTNBP1-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 222
NC_000006.12:g.15593076TCCT[1]Pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_032122.5(DTNBP1):c.668-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_032122.5(DTNBP1):c.93del (p.Lys31_Val32insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 31
NM_032122.5(DTNBP1):c.502dup (p.Thr168fs)Likely pathogenic
Hermansky-Pudlak syndrome 7
β˜…β˜†β˜†β˜†2024β†’ Residue 168
NM_032122.5(DTNBP1):c.164del (p.Tyr55fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 55
NM_032122.5(DTNBP1):c.1011_1014dup (p.Arg339Ter)Likely pathogenic
DTNBP1-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 339
NM_032122.5(DTNBP1):c.512-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_032122.5(DTNBP1):c.161+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter)Likely pathogenic
Hermansky-Pudlak syndrome 7
β˜…β˜†β˜†β˜†2021β†’ Residue 291
NM_032122.5(DTNBP1):c.390del (p.Asn130fs)Likely pathogenic
DTNBP1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 130
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter)Pathogenic
Hermansky-Pudlak syndrome 7
β˜†β˜†β˜†β˜†2013β†’ Residue 59
View on ClinVar β†—
Related Genes
VAMP2Protein interaction100%DAOAProtein interaction99%HPS1Protein interaction98%HPS4Protein interaction94%HPS3Protein interaction93%DTNBProtein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
93%
Bone Marrow
86%
Lung
73%
Ovary
48%
Liver
36%
Gene Interaction Network
Click a node to explore
DTNBP1VAMP2DAOAHPS1HPS4HPS3DTNB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96EV8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.63–1.10]
RankingsWhere DTNBP1 stands among ~20K protein-coding genes
  • #1,866of 20,598
    Most Researched220 Β· top 10%
  • #2,438of 5,498
    Most Pathogenic Variants15
  • #11,273of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedDTNBP1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
PMID: 20301464
1.00
2
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep Β· 2022
0.90
3
Is the dysbindin gene (DTNBP1) a susceptibility gene for schizophrenia?
PMID: 16166606
Schizophr Bull Β· 2005
0.80
4
Association study between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia: a meta-analysis.
PMID: 17604607
Schizophr Res Β· 2007
0.70
5
Schizophrenia-associated gene dysbindin-1 and tardive dyskinesia.
PMID: 32394511
Drug Dev Res Β· 2021
0.60