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Aliases for DTNA Gene

Aliases for DTNA Gene

  • Dystrobrevin Alpha 2 3 5
  • Dystrophin-Related Protein 3 2 3 4
  • Dystrobrevin, Alpha 2 3
  • DTN-A 3 4
  • DRP3 3 4
  • Alpha-Dystrobrevin 4
  • D18S892E 3
  • LVNC1 3
  • 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 and PDZ domain 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

Promoters for DTNA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DTNA on UCSC Golden Path with GeneCards custom track

Genomic Location for DTNA Gene

Chromosome:
18
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

Genes around DTNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for DTNA Gene

Gene Families for DTNA Gene

Protein Domains for DTNA Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4J8

UniProtKB/Swiss-Prot:

DTNA_HUMAN :
  • The coiled coil domain mediates the interaction with dystrophin and utrophin.
  • Belongs to the dystrophin family. Dystrobrevin subfamily.
  • Contains 1 ZZ-type zinc finger.
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

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.
genes like me logo Genes that share phenotypes with DTNA: view

Human Phenotype Ontology for DTNA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DTNA Gene

MGI Knock Outs for DTNA:

miRNA for DTNA Gene

miRTarBase miRNAs that target DTNA

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
nucleus 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for DTNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IEA --
GO:0043234 protein complex IDA 18468998
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with DTNA: view

Pathways & Interactions 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:0007165 signal transduction TAS 10767327
GO:0007268 synaptic transmission TAS 8845841
genes like me logo Genes that share ontologies with DTNA: view

No data available for SIGNOR curated interactions for DTNA Gene

Drugs & Compounds for DTNA Gene

No Compound Related Data Available

Transcripts for DTNA Gene

Unigene Clusters for DTNA Gene

Dystrobrevin, alpha:
Representative Sequences:

Inhibitory RNA Products

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) (x4.6) and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for DTNA Gene

This gene is overexpressed in Urinary Bladder (11.0), Heart (9.2), Prostate (7.6), and Cerebrospinal fluid (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DTNA: view

Protein tissue co-expression partners for DTNA Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia DTNA 35
  • 99.69 (n)
  • 99.87 (a)
DTNA 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dtna 35
  • 89.81 (n)
  • 96.62 (a)
oppossum
(Monodelphis domestica)
Mammalia DTNA 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DTNA 36
  • 87 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia dyb-1 35
  • 79.84 (n)
  • 89.17 (a)
African clawed frog
(Xenopus laevis)
Amphibia dtna-A 35
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 37
  • 40 (a)
dyb-1 36
  • 44 (a)
OneToMany
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
VAR_026744 Left ventricular non-compaction 1 (LVNC1)
rs1048081 - 34,812,049(+) CACGG(A/C)AGTTT reference, missense
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

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

Variation tolerance for DTNA Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DTNA Gene

HapMap Linkage Disequilibrium report
DTNA
Human Gene Mutation Database (HGMD)
DTNA

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

Disorders for DTNA Gene

MalaCards: The human disease database

(8) MalaCards diseases for DTNA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
left ventricular noncompaction 1, with or without congenital heart defects
  • left ventricular noncompaction 1
left ventricular noncompaction
  • left ventricular hypertrabeculation
vestibular nystagmus
  • nystagmus associated with disorder of the vestibular system
barth syndrome
  • 3-methylglutaconicaciduria type 2
meniere's disease
  • meniere disease
- elite association - COSMIC cancer census association via MalaCards
Search DTNA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for DTNA

Genetic Association Database (GAD)
DTNA
Human Genome Epidemiology (HuGE) Navigator
DTNA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DTNA
genes like me logo Genes that share disorders with DTNA: view

No data available for Genatlas for DTNA Gene

Publications for DTNA Gene

  1. 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 67
  2. Association of alpha-dystrobrevin with reorganizing tight junctions. (PMID: 15834686) SjAP A. … Peterson K.H. (J. Membr. Biol. 2005) 2 3 23
  3. Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat. (PMID: 19961569) Bohm S.V. … Roberts R.G. (BMC Biol. 2009) 3 23
  4. Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. (PMID: 18299519) Nakamori M. … Sakoda S. (Neurology 2008) 3 23
  5. The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. (PMID: 15835271) Compton A.G. … North K.N. (J. Neuropathol. Exp. Neurol. 2005) 3 23

Products for DTNA Gene

Sources for DTNA Gene

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