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Aliases for DTNA Gene

Aliases for DTNA Gene

  • Dystrobrevin, Alpha 2 3
  • Dystrophin-Related Protein 3 2 3 4
  • DRP3 3 4 6
  • D18S892E 3 6
  • LVNC1 3 6
  • DTN-A 3 4
  • Dystrobrevin Alpha 3
  • Alpha-Dystrobrevin 4
  • DTN 3

External Ids for DTNA Gene

Previous GeneCards Identifiers for DTNA Gene

  • GC18P032206
  • GC18P031892
  • GC18P030325
  • GC18P030327
  • GC18P032073
  • GC18P028932

Summaries for DTNA Gene

Entrez Gene Summary for DTNA Gene

  • The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DTNA Gene

DTNA (Dystrobrevin, Alpha) is a Protein Coding gene. Diseases associated with DTNA include left ventricular noncompaction 1, with or without congenital heart defects and left ventricular noncompaction. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DRP2.

UniProtKB/Swiss-Prot for DTNA Gene

  • May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors

Gene Wiki entry for DTNA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DTNA Gene

Genomics for DTNA Gene

Regulatory Elements for DTNA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DTNA Gene

Start:
34,493,290 bp from pter
End:
34,891,844 bp from pter
Size:
398,555 bases
Orientation:
Plus strand

Genomic View for DTNA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DTNA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTNA Gene

Proteins for DTNA Gene

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

    Protein Symbol:
    Q9Y4J8-DTNA_HUMAN
    Recommended name:
    Dystrobrevin alpha
    Protein Accession:
    Q9Y4J8
    Secondary Accessions:
    • A8K541
    • A8MSZ0
    • A8MUY4
    • B4DGS6
    • B4DIR0
    • B4DIU8
    • M0QYX6
    • M0R397
    • O15332
    • O15333
    • O75697
    • Q13197
    • Q13198
    • Q13199
    • Q13498
    • Q13499
    • Q13500
    • Q59GK7
    • Q9BS59

    Protein attributes for DTNA Gene

    Size:
    743 amino acids
    Molecular mass:
    83901 Da
    Quaternary structure:
    • Interacts with dystrophin, utrophin and the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Isoform 7 and isoform 8 do not interact with dystrophin. Binds dystrobrevin binding protein 1. Interacts with MAGEE1 (By similarity).
    SequenceCaution:
    • Sequence=BAD92339.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DTNA Gene

neXtProt entry for DTNA Gene

Proteomics data for DTNA Gene at MOPED

Post-translational modifications for DTNA Gene

  • Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DTNA Gene

Domains for DTNA Gene

Protein Domains for DTNA Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4J8

UniProtKB/Swiss-Prot:

DTNA_HUMAN :
  • Q9Y4J8
Domain:
  • The coiled coil domain mediates the interaction with dystrophin and utrophin.
Family:
  • Belongs to the dystrophin family. Dystrobrevin subfamily.
Similarity:
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with DTNA: view

No data available for Gene Families for DTNA Gene

Function for DTNA Gene

Molecular function for DTNA Gene

GENATLAS Biochemistry: dystrobrevin alpha,87kDa,cytoplasmic,dystrophin related phosphoprotein,found at the Torpedo electric organ post-synaptic membrane,involved in the formation and stability of the synapses,component of the dystrophin glycoprotein complex,with dystrophin and syntrophins
UniProtKB/Swiss-Prot Function: May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors

Gene Ontology (GO) - Molecular Function for DTNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 11353857
GO:0008270 zinc ion binding IEA --
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with DTNA: view
genes like me logo Genes that share phenotypes with DTNA: view

Animal Models for DTNA Gene

MGI Knock Outs for DTNA:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DTNA

Clone Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for DTNA Gene

Localization for DTNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for DTNA Gene

Cytoplasm. Cell junction, synapse. Cell membrane. Note=In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DTNA Gene COMPARTMENTS Subcellular localization image for DTNA gene
Compartment Confidence
cytosol 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for DTNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030054 cell junction IEA --
GO:0030424 axon IEA --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IEA --
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with DTNA: view

Pathways for DTNA Gene

genes like me logo Genes that share pathways with DTNA: view

Pathways by source for DTNA Gene

Gene Ontology (GO) - Biological Process for DTNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006941 striated muscle contraction TAS 10767327
GO:0007165 signal transduction TAS 10767327
GO:0007268 synaptic transmission TAS 8845841
GO:0007274 neuromuscular synaptic transmission TAS 9119373
genes like me logo Genes that share ontologies with DTNA: view

Transcripts for DTNA Gene

Unigene Clusters for DTNA Gene

Dystrobrevin, alpha:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DTNA

Clone Products

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^
SP1: - - - - - -
SP2: -
SP3: - - - -
SP4: - -
SP5:
SP6:

ExUns: 25 ^ 26a · 26b ^ 27 ^ 28a · 28b · 28c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -

Relevant External Links for DTNA Gene

GeneLoc Exon Structure for
DTNA
ECgene alternative splicing isoforms for
DTNA

Expression for DTNA Gene

mRNA expression in normal human tissues for DTNA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (4.6) and Brain - Amygdala (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DTNA Gene

SOURCE GeneReport for Unigene cluster for DTNA Gene Hs.643454

mRNA Expression by UniProt/SwissProt for DTNA Gene

Q9Y4J8-DTNA_HUMAN
Tissue specificity: Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoform 7 and isoform 8 are only expressed in muscle
genes like me logo Genes that share expressions with DTNA: view

In Situ Assay Products

Orthologs for DTNA Gene

This gene was present in the common ancestor of animals.

Orthologs for DTNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DTNA 35
  • 99.69 (n)
  • 99.87 (a)
DTNA 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DTNA 35
  • 92.01 (n)
  • 97.44 (a)
DTNA 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DTNA 35
  • 93.02 (n)
  • 97.57 (a)
DTNA 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dtna 35
  • 90.44 (n)
  • 96.48 (a)
Dtna 16
Dtna 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DTNA 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DTNA 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dtna 35
  • 89.81 (n)
  • 96.62 (a)
chicken
(Gallus gallus)
Aves DTNA 35
  • 84.62 (n)
  • 93.23 (a)
DTNA 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DTNA 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dtna-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dyb-1 35
  • 79.84 (n)
  • 89.17 (a)
zebrafish
(Danio rerio)
Actinopterygii dtna 35
  • 69.76 (n)
  • 74.92 (a)
dtna 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dyb 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyb-1 36
  • 44 (a)
OneToMany
dyb-1 37
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
OneToMany
Species with no ortholog for DTNA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DTNA Gene

ENSEMBL:
Gene Tree for DTNA (if available)
TreeFam:
Gene Tree for DTNA (if available)

Paralogs for DTNA Gene

Paralogs for DTNA Gene

genes like me logo Genes that share paralogs with DTNA: view

Variants for DTNA Gene

Sequence variations from dbSNP and Humsavar for DTNA Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs3133 -- 34,889,308(-) CTTAC(A/G)AATTA intron-variant, utr-variant-3-prime
rs484062 -- 34,877,056(-) TCTTT(A/G)TGGCA intron-variant
rs488017 -- 34,883,647(-) ACAAA(A/G)TAAGA intron-variant
rs496728 -- 34,872,884(-) GCTGA(G/T)TCTAA intron-variant
rs506619 -- 34,866,471(+) CTTAA(A/C/G/T)AGAGA intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv909536 CNV Loss 21882294
nsv516464 CNV Loss 19592680
nsv525306 CNV Loss 19592680
esv2672684 CNV Deletion 23128226
nsv2251 CNV Insertion 18451855
esv2677908 CNV Deletion 23128226
nsv131325 CNV Loss 16902084
esv2663213 CNV Deletion 23128226

Relevant External Links for DTNA Gene

HapMap Linkage Disequilibrium report
DTNA
Human Gene Mutation Database (HGMD)
DTNA
Locus Specific Mutation Databases (LSDB)
DTNA

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

Disorders for DTNA Gene

(1) OMIM Diseases for DTNA Gene (601239)

UniProtKB/Swiss-Prot

DTNA_HUMAN
  • Left ventricular non-compaction 1 (LVNC1) [MIM:604169]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected. {ECO:0000269 PubMed:11238270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DTNA Gene

(3) Novoseek inferred disease relationships for DTNA Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophies 72.9 3
muscular dystrophy duchenne 67.1 2
myopathy 44.5 2

Relevant External Links for DTNA

Genetic Association Database (GAD)
DTNA
Human Genome Epidemiology (HuGE) Navigator
DTNA
genes like me logo Genes that share disorders with DTNA: view

Publications for DTNA Gene

  1. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PMID: 11238270) Ichida F. … Towbin J.A. (Circulation 2001) 3 4 23
  2. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. (PMID: 12899872) Jones K.J. … North K.N. (Neuromuscul. Disord. 2003) 3 23 48
  3. Association of alpha-dystrobrevin with reorganizing tight junctions. (PMID: 15834686) SjAP A. … Peterson K.H. (J. Membr. Biol. 2005) 2 3 23
  4. The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. (PMID: 15835271) Compton A.G. … North K.N. (J. Neuropathol. Exp. Neurol. 2005) 3 23
  5. Syntrophin binds to an alternatively spliced exon of dystrophin. (PMID: 7844150) Ahn A.H. … Kunkel L.M. (J. Cell Biol. 1995) 3 4

Products for DTNA Gene

Sources for DTNA Gene

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