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

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. 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

Additional gene information 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 for DTNB Gene

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 756.8 +0.0 47 2.8 POLR2A ZNF362 L3MBTL2 ZNF280D ZNF148 NKRF CEBPG SP5 ZNF384 KAT8 DTNB lnc-ASXL2-7
GH02J025671 Promoter 0.4 Ensembl 750.6 +1.9 1946 0.2 GATA3 DTNB lnc-ASXL2-7 piR-56759-296
GH02J026342 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -672.1 -672123 6.3 SIN3A SP1 SREBF1 MLX RBPJ SMARCE1 POLR2A CTBP1 NR2F1 ATF1 ADGRF3 SELENOI lnc-HADHA-4 lnc-HADHA-5 CAD ASXL2 GTF3C2-AS1 AGBL5 TMEM214 KIF3C
GH02J024970 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +701.5 701470 3.7 SIN3A ZBTB40 SP1 ZBTB6 LCORL MLX SMARCE1 RBPJ POLR2A NR2F1 DNAJC27-AS1 DNAJC27 lnc-ADCY3-3 ADCY3 WDCP ASXL2 EFR3B DNMT3A FKBP1B DTNB
GH02J024791 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +880.1 880148 4.7 E2F8 SP1 ZBTB40 CTCF SIX5 LCORL MLX SMARCE1 RBPJ POLR2A PTRHD1 CENPO LOC105369164 lnc-ADCY3-1 ATAD2B WDCP DNAJC27-AS1 FAM228B FKBP1B ITSN2
- 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 UCSC Golden Path with GeneCards custom track

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
chr2:25,377,198-25,673,647
(GRCh38/hg38)
Size:
296,450 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).

    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

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

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
cytoskeleton 1
nucleus 0
cytosol 0

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 --
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

None

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) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(30) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
ECgene alternative splicing isoforms for
DTNB

Expression for DTNB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of DTNB Gene:

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(4.8)
  • Muscle(4.3)
  • Eye(4.2)
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 33 32
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DTNB 33 32
  • 95.11 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DTNB 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DTNB 33 32
  • 94.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dtnb 17 33 32
  • 91.57 (n)
rat
(Rattus norvegicus)
Mammalia Dtnb 32
  • 91.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DTNB 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves DTNB 32
  • 82.26 (n)
lizard
(Anolis carolinensis)
Reptilia DTNB 33
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dtnbb 33 32
  • 75.13 (n)
OneToOne
dtnb 32
fruit fly
(Drosophila melanogaster)
Insecta Dyb 33 32
  • 55.82 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyb-1 33 34 32
  • 52.79 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 12 (a)
OneToMany
Species where no ortholog for DTNB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for DTNB Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000027128 -- 25,389,354(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000040739 -- 25,649,450(-) C/T intron_variant
rs1000046682 -- 25,615,756(-) C/T intron_variant
rs1000052370 -- 25,572,179(-) T/C intron_variant
rs1000079658 -- 25,608,417(-) A/C intron_variant

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

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

Disorder Aliases PubMed IDs
muscular dystrophy
  • muscular dystrophies
- 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. 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 56
  2. Identification and characterization of a novel member of the dystrobrevin gene family. (PMID: 9540997) Puca AA … Franco B (FEBS letters 1998) 3 4 23 56
  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 56
  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 43 56
  5. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. (PMID: 22120009) Broderick P … Houlston RS (Nature genetics 2011) 3 43 56

Products for DTNB Gene

Sources for DTNB Gene