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Aliases for DTNA Gene

Aliases for DTNA Gene

  • Dystrobrevin Alpha 2 3 3 5
  • Dystrophin-Related Protein 3 2 3 4
  • DTN-A 3 4
  • DRP3 3 4
  • Dystrobrevin, Alpha 2
  • 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 and Left Ventricular Noncompaction. Among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Gene Ontology (GO) annotations related to this gene include calcium ion binding and PDZ domain binding. An important paralog of this gene is DTNB.

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

Additional gene information for DTNA Gene

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

Genomics for DTNA Gene

GeneHancer (GH) Regulatory Elements for DTNA Gene

Promoters and enhancers for DTNA 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
GH18J034706 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.8 +216.1 216061 4.9 PKNOX1 NFIB ZSCAN4 MZF1 FEZF1 BMI1 RFX5 ZNF366 FOS RCOR1 DTNA MAPRE2 NOL4 ENSG00000268873 RPL10AP13
GH18J034492 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.4 449 2.1 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 GLIS2 ZNF213 DTNA ZNF397 ZSCAN30 RPL10AP13
GH18J034591 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.2 +99.8 99814 3.6 POLR2A NR2F1 ZNF341 ZSCAN5C ZFP37 PRDM1 ZBTB17 DTNA ZSCAN30 RPL10AP13 ENSG00000268873
GH18J034818 Promoter 0.5 EPDnew 650.1 +325.1 325072 0.1 DTNA ENSG00000268873 LOC105372061
GH18J034495 Enhancer 0.3 Ensembl 650.7 +1.9 1911 0.4 EZH2 DTNA RPL10AP13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DTNA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DTNA gene promoter:
  • PPAR-gamma1
  • STAT5A
  • AREB6
  • Max1
  • c-Myc
  • PPAR-gamma2
  • HOXA9
  • MEF-2A
  • aMEF-2
  • USF1

Genomic Locations for DTNA Gene

Genomic Locations for DTNA Gene
chr18:34,493,290-34,891,844
(GRCh38/hg38)
Size:
398,555 bases
Orientation:
Plus strand
chr18:32,073,254-32,471,808
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.
Domain:
  • The coiled coil domain mediates the interaction with dystrophin and utrophin.
Family:
  • Belongs to the dystrophin family. Dystrobrevin subfamily.
genes like me logo Genes that share domains with DTNA: view

Function for DTNA Gene

Molecular function for DTNA Gene

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.
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

Phenotypes From GWAS Catalog for DTNA Gene

Gene Ontology (GO) - Molecular Function for DTNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9356463
GO:0008270 zinc ion binding IEA --
GO:0030165 PDZ domain binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DTNA: view
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:

Animal Model Products

miRNA for DTNA Gene

miRTarBase miRNAs that target DTNA

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 DTNA gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytoskeleton 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Intermediate filaments (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DTNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0030424 axon 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:0006941 striated muscle contraction TAS 10767327
GO:0007165 signal transduction TAS 10767327
GO:0007268 chemical synaptic transmission TAS 8845841
GO:0007274 neuromuscular synaptic transmission TAS 9119373
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

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DTNA Gene



Protein tissue co-expression partners for DTNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DTNA Gene:

DTNA

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.

Evidence on tissue expression from TISSUES for DTNA Gene

  • Nervous system(5)
  • Heart(4.5)
  • Muscle(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DTNA Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • respiratory
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
genes like me logo Genes that share expression patterns with DTNA: view

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 34 33
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DTNA 34 33
  • 93.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DTNA 34 33
  • 92.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dtna 16 34 33
  • 90.44 (n)
oppossum
(Monodelphis domestica)
Mammalia DTNA 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dtna 33
  • 89.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DTNA 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DTNA 34 33
  • 84.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DTNA 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dyb-1 33
  • 79.84 (n)
African clawed frog
(Xenopus laevis)
Amphibia dtna-A 33
zebrafish
(Danio rerio)
Actinopterygii dtna 34 33
  • 69.76 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dyb 34
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyb-1 34 35
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 12 (a)
OneToMany
Species where no ortholog for DTNA was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DTNA: view image

Paralogs for DTNA Gene

Paralogs for DTNA Gene

(3) SIMAP similar genes for DTNA Gene using alignment to 18 proteins:

  • DTNA_HUMAN
  • A8K541_HUMAN
  • D2DGW5_HUMAN
  • D2DGW6_HUMAN
  • F8WE01_HUMAN
  • K7EIV1_HUMAN
  • K7EJ84_HUMAN
  • K7EMN1_HUMAN
  • K7ENJ7_HUMAN
  • K7ER73_HUMAN
  • K7ERH7_HUMAN
  • K7ERZ2_HUMAN
  • K7ESB2_HUMAN
  • L8E9H2_HUMAN
  • M0QYX6_HUMAN
  • M0QZ28_HUMAN
  • M0R021_HUMAN
  • M0R0C4_HUMAN
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 Variation AA Info Type
rs1011103100 uncertain-significance, Left ventricular noncompaction cardiomyopathy 34,867,059(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs104894654 pathogenic, Left ventricular noncompaction 1, Left ventricular non-compaction 1 (LVNC1) [MIM:604169] 34,794,250(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1057518968 likely-pathogenic, Arrhythmia, Noncompaction cardiomyopathy 34,794,065(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060503523 uncertain-significance, Left ventricular noncompaction 1 34,794,097(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060504938 likely-benign, Left ventricular noncompaction 1 34,820,820(+) A/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv525306 CNV loss 19592680
nsv516464 CNV loss 19592680
nsv2251 CNV insertion 18451855
nsv131325 CNV deletion 16902084
nsv1139684 CNV duplication 24896259
nsv1118786 CNV deletion 24896259
esv3642190 CNV loss 21293372
esv3555216 CNV deletion 23714750
esv2677908 CNV deletion 23128226
esv2672684 CNV deletion 23128226
esv2663213 CNV deletion 23128226
dgv977e212 CNV loss 25503493

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)

Additional Variant Information for DTNA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DTNA Gene

MalaCards: The human disease database

(11) MalaCards diseases for DTNA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
left ventricular noncompaction 1
  • lvnc1
left ventricular noncompaction
  • left ventricular hypertrabeculation
barth syndrome
  • bths
vestibular nystagmus
  • nystagmus associated with disorder of the vestibular system
deafness, autosomal dominant 15
  • dfna15
- 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 form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition. {ECO:0000269 PubMed:11238270}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DTNA

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

No data available for Genatlas for DTNA Gene

Publications for DTNA Gene

  1. Association of alpha-dystrobrevin with reorganizing tight junctions. (PMID: 15834686) Sjö A … Peterson KH (The Journal of membrane biology 2005) 2 3 22 58
  2. Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. (PMID: 12899872) Jones KJ … North KN (Neuromuscular disorders : NMD 2003) 3 22 44 58
  3. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PMID: 11238270) Ichida F … Towbin JA (Circulation 2001) 3 4 22 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat. (PMID: 19961569) Böhm SV … Roberts RG (BMC biology 2009) 3 22 58

Products for DTNA Gene

Sources for DTNA Gene

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