DTNB (dystrobrevin beta)

Gene

• Entrez ID: 1838
• Gene name: Dystrobrevin beta
• Gene symbol: DTNB
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: 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

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
MIRT738389	hsa-miR-550a	CLIP-seq
MIRT738387	hsa-miR-3657	CLIP-seq
MIRT738386	hsa-miR-4669	CLIP-seq
MIRT738388	hsa-miR-516a-3p	CLIP-seq
MIRT738389	hsa-miR-550a	CLIP-seq

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0008270	Function	Zinc ion binding	IEA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0030182	Process	Neuron differentiation	IMP	27223470
GO:0030425	Component	Dendrite	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060077	Component	Inhibitory synapse	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0099536	Process	Synaptic signaling	IBA

Other IDs

• MIM: 602415
• HGNC: 3058
• e!Ensembl: ENSG00000138101

Protein

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	35173266	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	35180244	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	28112199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	35173266	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASCAT_DG	28112199		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12118103		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27223470	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASDB_DG	22120009, 23955597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	22120009, 27363682, 28112199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	22120009, 24449210	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	27223470	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	9540997		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	36232302	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15124027, 15184234		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	28112199		★☆☆☆☆ Found in Text Mining only