DTNB (dystrobrevin beta)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1838
Gene name Gene Name - the full gene name approved by the HGNC.
Dystrobrevin beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DTNB
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
MIRT029905 hsa-miR-26b-5p Microarray 19088304
MIRT051460 hsa-let-7e-5p CLASH 23622248
MIRT738387 hsa-miR-3657 CLIP-seq
MIRT738386 hsa-miR-4669 CLIP-seq
MIRT738388 hsa-miR-516a-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 21115837, 21516116, 25416956, 29892012, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IDA 27223470
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 27223470
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602415 3058 ENSG00000138101
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O60941
Protein name Dystrobrevin beta (DTN-B) (Beta-dystrobrevin)
Protein function Scaffolding protein that assembles DMD and SNTA1 molecules to the basal membrane of kidney cells and liver sinusoids (By similarity). May function as a repressor of the SYN1 promoter through the binding of repressor element-1 (RE-1), in turn reg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09068 EF-hand_2 16 → 140 EF hand Domain
PF09069 EF-hand_3 144 → 232 EF-hand Domain
PF00569 ZZ 238 → 282 Zinc finger, ZZ type Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, kidney and pancreas.
Sequence 
MIEESGNKRKTMAEKRQLFIEMRAQNFDVIRLSTYRTACKLRFVQKRCNLHLVDIWNMIE
AFRDNGLNTLDHTTEISVSRLETVISSIYYQLNKRLPSTHQISVEQSISLLLNFMIAAYD
SEGRGKLTVFSVKAMLATMCGGKMLDKLRYVFSQMSDSNGLMIFSKFDQFLKEVLKLPTA
VFEGPSFGYTEHSVRTCFPQQRKIMLNMFLDTMMADPPPQCLVWLPLMHRLAHVENVFHP
VECSYCRCESMMGFRYRCQQCHNYQLCQNCFWRGHAGGPHSNQHQMKEHSSWKSPAKKLS
HAISKSLGCVPTREPPHPVFPEQPEKPLDLAHIVPPRPLTNMNDTMVSHMSSGVPTPTKR
LQYSQDIPSHLADEHALIASYVARLQHCARVLDSPSRLDEEHRLIARYAARLAAEAGNVT
RPPTDLSFNFDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLA
ELRLLRQRKDELEQRMSALQESRRELMVQLEELMKLLKEEEQKQAAQATGSPHTSPTHGG
GRPMPMPVRSTSAGSTPTHCPQDSLSGVGGDVQEAFAQGTRRNLRNDLLVAADSITNTMS
SLVKELHSAEEGAEEEEEKMQNGKDRG
Sequence length 627
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35173266
Atrial Fibrillation Associate 35180244
Dementia Associate 35173266
Hypoxia Stimulate 27223470
Hypoxia Brain Stimulate 27223470
Inflammation Associate 35173266
Monoclonal Gammopathy of Undetermined Significance Associate 24449210
Multiple Myeloma Associate 22120009, 24449210
Muscular Dystrophy Duchenne Associate 27223470
Nerve Degeneration Associate 35173266