DTNBP1 (dystrobrevin binding protein 1)

2016-10-01  

Identity

HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
BLOC1S8,DBND,HPS7,My031,SDY
FUSION GENES

Other Information

Locus ID:

NCBI: 84062
MIM: 607145
HGNC: 17328
Ensembl: ENSG00000047579

Variants:

dbSNP: 84062
ClinVar: 84062
TCGA: ENSG00000047579
COSMIC: DTNBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000047579ENST00000338950Q96EV8
ENSG00000047579ENST00000344537Q96EV8
ENSG00000047579ENST00000344537A0A0S2Z5U8
ENSG00000047579ENST00000355917A6NFV8
ENSG00000047579ENST00000462989D6RJC6
ENSG00000047579ENST00000506844D6RB80
ENSG00000047579ENST00000509674D6RAR7
ENSG00000047579ENST00000510395D6RAX1
ENSG00000047579ENST00000511762D6RID1
ENSG00000047579ENST00000513680D6RB80
ENSG00000047579ENST00000515875D6RCT8
ENSG00000047579ENST00000622898A0A087WYP9

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10832corticosteroidsChemicalVariantAnnotationassociatedPD30697902
PA443450AsthmaDiseaseVariantAnnotationassociatedPD30697902
PA447215Psychotic DisordersDiseaseClinicalAnnotationassociatedPD17555717
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD19065121
PA449015citalopramChemicalClinicalAnnotationassociatedPD19065121
PA449061clozapineChemicalClinicalAnnotationassociatedPD
PA449841haloperidolChemicalClinicalAnnotation, MultilinkAnnotationassociatedPD27023437
PA450403methamphetamineChemicalClinicalAnnotationassociatedPD17555717

References

Pubmed IDYearTitleCitations
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
120981022002Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia.188
151240272004Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.131
181982662008No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics.111
153457062004Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia.86
113167982001Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain.81
169803282006Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.69
124741442003Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families.64
179619842008Reduced DTNBP1 (dysbindin-1) mRNA in the hippocampal formation of schizophrenia patients.61
179893032007Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization.59

Citation

Dessen P

DTNBP1 (dystrobrevin binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55950/dtnbp1