DTNBP1 (dystrobrevin binding protein 1)

2016-10-01 Affiliation

Identity

HGNC

DTNBP1

LOCATION

6p22.3

LOCUSID

84062

ALIAS

BLOC1S8,DBND,HPS7,My031,SDY

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000047579	ENST00000338950	Q96EV8
ENSG00000047579	ENST00000344537	Q96EV8
ENSG00000047579	ENST00000344537	A0A0S2Z5U8
ENSG00000047579	ENST00000355917	A6NFV8
ENSG00000047579	ENST00000462989	D6RJC6
ENSG00000047579	ENST00000506844	D6RB80
ENSG00000047579	ENST00000509674	D6RAR7
ENSG00000047579	ENST00000510395	D6RAX1
ENSG00000047579	ENST00000511762	D6RID1
ENSG00000047579	ENST00000513680	D6RB80
ENSG00000047579	ENST00000515875	D6RCT8
ENSG00000047579	ENST00000622898	A0A087WYP9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
trans-Golgi Network Vesicle Budding	REACTOME	R-HSA-199992
Clathrin derived vesicle budding	REACTOME	R-HSA-421837
Golgi Associated Vesicle Biogenesis	REACTOME	R-HSA-432722

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10832	corticosteroids	Chemical	VariantAnnotation	associated	PD	30697902
PA443450	Asthma	Disease	VariantAnnotation	associated	PD	30697902
PA447215	Psychotic Disorders	Disease	ClinicalAnnotation	associated	PD	17555717
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated	PD
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation	associated	PD	19065121
PA449015	citalopram	Chemical	ClinicalAnnotation	associated	PD	19065121
PA449061	clozapine	Chemical	ClinicalAnnotation	associated	PD
PA449841	haloperidol	Chemical	ClinicalAnnotation, MultilinkAnnotation	associated	PD	27023437
PA450403	methamphetamine	Chemical	ClinicalAnnotation	associated	PD	17555717

References

Pubmed ID	Year	Title	Citations
37172778	2023	Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.	0
37218669	2023	Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance.	0
37480305	2023	SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.	0
37172778	2023	Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.	0
37218669	2023	Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance.	0
37480305	2023	SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.	0
34997064	2022	Objective to identify and verify the regulatory mechanism of DTNBP1 as a prognostic marker for hepatocellular carcinoma.	4
35124166	2022	Protein Kinase B/Akt1 Phosphorylates Dysbindin-1A at Serine 10 to Regulate Neuronal Development.	4
34997064	2022	Objective to identify and verify the regulatory mechanism of DTNBP1 as a prognostic marker for hepatocellular carcinoma.	4
35124166	2022	Protein Kinase B/Akt1 Phosphorylates Dysbindin-1A at Serine 10 to Regulate Neuronal Development.	4
31492942	2021	The epistatic interaction between the dopamine D3 receptor and dysbindin-1 modulates higher-order cognitive functions in mice and humans.	27
32394511	2021	Schizophrenia-associated gene dysbindin-1 and tardive dyskinesia.	2
33186610	2021	Loss of Dysbindin Implicates Synaptic Vesicle Replenishment Dysregulation as a Potential Pathogenic Mechanism in Schizophrenia.	4
33890175	2021	Cortical copper transporter expression in schizophrenia: interactions of risk gene dysbindin-1.	1
31492942	2021	The epistatic interaction between the dopamine D3 receptor and dysbindin-1 modulates higher-order cognitive functions in mice and humans.	27

Citation

Dessen P

DTNBP1 (dystrobrevin binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55950/haematological-explorer/deep-insight-explorer/img/logo-atlas-4.svg