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 alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy... See more...

Aliases for DTNB Gene

Aliases for DTNB Gene

  • Dystrobrevin Beta 2 3 4 5
  • Beta-Dystrobrevin 3 4
  • DTN-B 3 4
  • Dystrobrevin, Beta 2
  • DTNB 5

External Ids for DTNB Gene

Previous GeneCards Identifiers for DTNB Gene

  • GC02M025521
  • GC02M025692
  • GC02M025557
  • GC02M025574
  • GC02M025511
  • GC02M025453
  • GC02M025600
  • GC02M025337

Summaries for DTNB Gene

Entrez Gene Summary for DTNB 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 alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]

GeneCards Summary for DTNB Gene

DTNB (Dystrobrevin Beta) is a Protein Coding gene. Diseases associated with DTNB include Muscular Dystrophy and Hermansky-Pudlak Syndrome. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DTNA.

Gene Wiki entry for DTNB Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DTNB Gene

Genomics for DTNB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DTNB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J025672 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 606.8 +0.1 74 2.8 HNRNPL PRDM10 NFKBIZ BACH1 LARP7 ZNF143 RBFOX2 POLR2A EZH2 ZNF600 DTNB lnc-ASXL2-7 DNMT3A
GH02J025671 Promoter 0.4 Ensembl 600.7 +2.0 1973 0.2 GATA3 DTNB lnc-ASXL2-7 piR-56759-296 DNMT3A
GH02J025649 Promoter/Enhancer 1.1 FANTOM5 Ensembl ENCODE 17.7 +23.0 22953 2.7 CEBPA SOX13 GATA3 STAT1 USF2 HOMEZ JUN RARA KDM1A NR2F6 DTNB POMC RAB10 piR-56759-296 lnc-ASXL2-7 DNMT3A
GH02J025808 Enhancer 1.1 Ensembl ENCODE 14.1 -134.0 -134027 3.4 GATAD2A TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 SP1 CEBPA FOXK2 DTNB ASXL2 DNAJC27 EFR3B TPM3P7 lnc-KIF3C-1 RF00017-3137
GH02J025851 Enhancer 1 ENCODE 14.3 -178.9 -178911 2.3 GATAD2A CTCF ZNF512 LEF1 JUND STAT3 MTA2 RFX1 RXRB MTA1 KIF3C GAREM2 DTNB ASXL2 ENSG00000218682 RF00017-3138
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DTNB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DTNB

Top Transcription factor binding sites by QIAGEN in the DTNB gene promoter:
  • ATF
  • C/EBPbeta
  • CREB
  • Egr-2
  • FOXD1
  • GATA-1
  • Pax-4a
  • Roaz
  • RORalpha1
  • ZID

Genomic Locations for DTNB Gene

Genomic Locations for DTNB Gene
chr2:25,377,198-25,673,674
(GRCh38/hg38)
Size:
296,477 bases
Orientation:
Minus strand
chr2:25,600,067-25,896,503
(GRCh37/hg19)
Size:
296,437 bases
Orientation:
Minus strand

Genomic View for DTNB Gene

Genes around DTNB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTNB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DTNB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTNB Gene

Proteins for DTNB Gene

  • Protein details for DTNB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60941-DTNB_HUMAN
    Recommended name:
    Dystrobrevin beta
    Protein Accession:
    O60941
    Secondary Accessions:
    • B7Z733
    • F5GZG4
    • G5E9F6
    • O43782
    • O60881
    • O75538
    • Q86VR4
    • Q96AW0
    • Q9UE14
    • Q9UE15
    • Q9UE16

    Protein attributes for DTNB Gene

    Size:
    627 amino acids
    Molecular mass:
    71356 Da
    Quaternary structure:
    • Interacts with dystrophin short form DP71 and syntrophins SNTG1 and SNTG2. Binds dystrobrevin binding protein 1 (By similarity).
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for DTNB Gene

neXtProt entry for DTNB Gene

Post-translational modifications for DTNB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DTNB Gene

Domains & Families for DTNB Gene

Gene Families for DTNB Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DTNB Gene

InterPro:
Blocks:
  • Zn-finger, ZZ type
ProtoNet:

Suggested Antigen Peptide Sequences for DTNB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60475, highly similar to Dystrobrevin beta (B7Z202_HUMAN)
  • Beta-dystrobrevin (DTNB_HUMAN)
  • Dystrobrevin beta isoform 6 (Q1I0L3_HUMAN)
  • Dystrobrevin, beta (Q86VR4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60941

UniProtKB/Swiss-Prot:

DTNB_HUMAN :
  • The coiled coil domain may mediate the interaction with dystrophin.
  • Belongs to the dystrophin family. Dystrobrevin subfamily.
Domain:
  • The coiled coil domain may mediate the interaction with dystrophin.
Family:
  • Belongs to the dystrophin family. Dystrobrevin subfamily.
genes like me logo Genes that share domains with DTNB: view

Function for DTNB Gene

Molecular function for DTNB Gene

GENATLAS Biochemistry:
dystrobrevin beta,71kDa,dystrophin related,copurifying with DP71 and DP140 dystrophins,significantly homologous to DBVA,expressed in brain and other tissues but not in muscle

Phenotypes From GWAS Catalog for DTNB Gene

Gene Ontology (GO) - Molecular Function for DTNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DTNB: view
genes like me logo Genes that share phenotypes with DTNB: view

Animal Models for DTNB Gene

MGI Knock Outs for DTNB:

Animal Model Products

  • Taconic Biosciences Mouse Models for DTNB

CRISPR Products

miRNA for DTNB Gene

miRTarBase miRNAs that target DTNB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTNB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DTNB Gene

Localization for DTNB Gene

Subcellular locations from UniProtKB/Swiss-Prot for DTNB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DTNB gene
Compartment Confidence
plasma membrane 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DTNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0045202 synapse IBA 21873635
genes like me logo Genes that share ontologies with DTNB: view

Pathways & Interactions for DTNB Gene

PathCards logo

SuperPathways for DTNB Gene

SuperPathway Contained pathways
1 Muscular Dystrophies and Dystrophin-Glycoprotein Complex
-
genes like me logo Genes that share pathways with DTNB: view

Pathways by source for DTNB Gene

1 Qiagen pathway for DTNB Gene
  • Muscular Dystrophies and Dystrophin-Glycoprotein Complex

Gene Ontology (GO) - Biological Process for DTNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0099536 synaptic signaling IBA 21873635
genes like me logo Genes that share ontologies with DTNB: view

No data available for SIGNOR curated interactions for DTNB Gene

Drugs & Compounds for DTNB Gene

(1) Additional Compounds for DTNB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DTNB: view

Transcripts for DTNB Gene

mRNA/cDNA for DTNB Gene

29 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTNB

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DTNB Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: -
SP5: -
SP6: -
SP7: - -
SP8:
SP9:
SP10:

ExUns: 19b ^ 20 ^ 21a · 21b ^ 22
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for DTNB Gene

GeneLoc Exon Structure for
DTNB

Expression for DTNB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DTNB Gene

mRNA differential expression in normal tissues according to GTEx for DTNB Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.0).

Protein differential expression in normal tissues from HIPED for DTNB Gene

This gene is overexpressed in Heart (20.1), Colon (11.6), Salivary gland (10.2), and Fetal gut (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DTNB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DTNB

SOURCE GeneReport for Unigene cluster for DTNB Gene:

Hs.307720

mRNA Expression by UniProt/SwissProt for DTNB Gene:

O60941-DTNB_HUMAN
Tissue specificity: Highly expressed in brain, kidney and pancreas.

Evidence on tissue expression from TISSUES for DTNB Gene

  • Nervous system(4.9)
  • Muscle(4.4)
  • Eye(4.4)
  • Blood(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with DTNB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DTNB Gene

Orthologs for DTNB Gene

This gene was present in the common ancestor of animals.

Orthologs for DTNB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DTNB 30 31
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DTNB 30 31
  • 95.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DTNB 31
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DTNB 30 31
  • 94.42 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dtnb 30 17 31
  • 91.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dtnb 30
  • 91.35 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DTNB 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DTNB 30
  • 82.26 (n)
Lizard
(Anolis carolinensis)
Reptilia DTNB 31
  • 79 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dtnbb 30 31
  • 75.13 (n)
OneToOne
dtnb 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dyb 30 31
  • 55.82 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dyb-1 30 31 32
  • 52.79 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 12 (a)
OneToMany
Species where no ortholog for DTNB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for DTNB Gene

ENSEMBL:
Gene Tree for DTNB (if available)
TreeFam:
Gene Tree for DTNB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DTNB: view image

Paralogs for DTNB Gene

(2) SIMAP similar genes for DTNB Gene using alignment to 13 proteins:

  • DTNB_HUMAN
  • B7Z202_HUMAN
  • E7ES64_HUMAN
  • E7EVB6_HUMAN
  • E9PE76_HUMAN
  • E9PEY4_HUMAN
  • F8W9U0_HUMAN
  • F8WD22_HUMAN
  • Q1I0L3_HUMAN
  • Q53QV1_HUMAN
  • Q53SF9_HUMAN
  • Q53T51_HUMAN
  • Q53TC8_HUMAN
genes like me logo Genes that share paralogs with DTNB: view

Variants for DTNB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DTNB Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
734090 Benign: not provided 25,388,233(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
rs17854576 - p.Pro97His
rs17854577 - p.Ile116Thr

Additional dbSNP identifiers (rs#s) for DTNB Gene

Structural Variations from Database of Genomic Variants (DGV) for DTNB Gene

Variant ID Type Subtype PubMed ID
dgv2081e59 CNV duplication 20981092
dgv6742n54 CNV gain 21841781
dgv6743n54 CNV loss 21841781
esv25482 CNV loss 19812545
esv2671046 CNV deletion 23128226
esv2675591 CNV deletion 23128226
esv2719823 CNV deletion 23290073
esv2719824 CNV deletion 23290073
esv33316 CNV loss 17666407
esv33372 CNV loss 17666407
esv33756 CNV gain 17666407
esv3554033 CNV deletion 23714750
esv3554044 CNV deletion 23714750
esv3590092 CNV loss 21293372
esv3590093 CNV loss 21293372
esv3590094 CNV loss 21293372
esv3590095 CNV loss 21293372
esv3590096 CNV loss 21293372
esv3590097 CNV loss 21293372
esv4217 CNV loss 18987735
nsv1001730 CNV loss 25217958
nsv477944 CNV novel sequence insertion 20440878
nsv512768 CNV insertion 21212237
nsv581217 CNV loss 21841781
nsv581218 CNV loss 21841781
nsv581234 CNV gain+loss 21841781
nsv819351 CNV gain 19587683

Variation tolerance for DTNB Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.25; 52.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DTNB Gene

Human Gene Mutation Database (HGMD)
DTNB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DTNB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTNB Gene

Disorders for DTNB Gene

MalaCards: The human disease database

(2) MalaCards diseases for DTNB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy
  • muscular dystrophies
hermansky-pudlak syndrome
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards
Search DTNB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DTNB

genes like me logo Genes that share disorders with DTNB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DTNB Gene

Publications for DTNB Gene

  1. Identification and characterization of a novel member of the dystrobrevin gene family. (PMID: 9540997) Puca AA … Franco B (FEBS letters 1998) 3 4 23
  2. beta-dystrobrevin, a member of the dystrophin-related protein family. (PMID: 9419360) Blake DJ … Davies KE (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 23
  3. beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. (PMID: 9395493) Peters MF … Froehner SC (The Journal of biological chemistry 1997) 3 4 23
  4. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 41
  5. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. (PMID: 22120009) Broderick P … Houlston RS (Nature genetics 2011) 3 41

Products for DTNB Gene

  • Signalway ELISA kits for DTNB
  • Signalway Proteins for DTNB

Sources for DTNB Gene