Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DST Gene

Aliases for DST Gene

  • Dystonin 2 3 3 5
  • Hemidesmosomal Plaque Protein 3 4
  • Bullous Pemphigoid Antigen 1 3 4
  • Dystonia Musculorum Protein 3 4
  • BPAG1 3 4
  • BP240 3 4
  • BPA 3 4
  • DMH 3 4
  • DT 3 4
  • Bullous Pemphigoid Antigen 1, 230/240kDa 2
  • 230/240 KDa Bullous Pemphigoid Antigen 4
  • 230 KDa Bullous Pemphigoid Antigen 4
  • Bullous Pemphigoid Antigen 4
  • Trabeculin-Beta 3
  • KIAA0728 4
  • CATX-15 3
  • D6S1101 3
  • CATX15 3
  • EBSB2 3
  • HSAN6 3
  • MACF2 3
  • BP230 4

External Ids for DST Gene

Previous HGNC Symbols for DST Gene

  • BPAG1

Previous GeneCards Identifiers for DST Gene

  • GC06M056370
  • GC06M056430
  • GC06M056158
  • GC06M056322

Summaries for DST Gene

Entrez Gene Summary for DST Gene

  • This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]

GeneCards Summary for DST Gene

DST (Dystonin) is a Protein Coding gene. Diseases associated with DST include Neuropathy, Hereditary Sensory And Autonomic, Type Vi and Epidermolysis Bullosa Simplex, Sutosomal Recessive 2. Among its related pathways are Cell junction organization and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is MACF1.

UniProtKB/Swiss-Prot for DST Gene

  • Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity).

  • Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.

  • Isoform 6: required for bundling actin filaments around the nucleus.

  • Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.

Gene Wiki entry for DST Gene

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

Genomics for DST Gene

Regulatory Elements for DST Gene

Enhancers for DST Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G056707 1.3 Ensembl ENCODE dbSUPER 22.7 +245.6 245625 3.0 RAD21 YY1 RFX5 RARA ZNF143 FOS ZNF654 ZNF174 CEBPB NR2F2 DST KIAA1586 BEND6 GC06M056744 GC06P056616
GH06G056682 1.5 Ensembl ENCODE dbSUPER 13.1 +270.7 270703 3.6 FOXA2 MLX ARID4B SIN3A YY1 TCF12 SLC30A9 FOS SP5 REST DST GC06P056616 GC06M056744
GH06G056901 1.4 Ensembl ENCODE dbSUPER 12.7 +52.0 52040 1.7 PKNOX1 ZFP64 RAD21 CBX5 ZNF143 ETV6 RELB CREM IKZF2 ZNF202 BEND6 LOC101927211 KIAA1586 DST BAG2 GC06M056915 GC06P056873
GH06G057312 1.7 FANTOM5 Ensembl ENCODE 10.2 -360.7 -360726 6.4 PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 BEND6 LOC101927211 BAG2 DST GUSBP4 PRIM2 RAB23 GC06M057367
GH06G056687 1.3 ENCODE dbSUPER 13 +263.9 263923 7.8 PKNOX1 FOXA2 ATF1 ARNT ARID4B DMAP1 FEZF1 ZNF2 YY1 GATA2 DST GC06P056616 GC06M056744
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DST on UCSC Golden Path with GeneCards custom track

Promoters for DST Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198377 -272 2601 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS SP3 SP5 ZHX2

Genomic Location for DST Gene

Chromosome:
6
Start:
56,457,987 bp from pter
End:
56,954,628 bp from pter
Size:
496,642 bases
Orientation:
Minus strand

Genomic View for DST Gene

Genes around DST on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DST Gene

Proteins for DST Gene

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

    Protein Symbol:
    Q03001-DYST_HUMAN
    Recommended name:
    Dystonin
    Protein Accession:
    Q03001
    Secondary Accessions:
    • B7Z3H1
    • E7ERU0
    • O94833
    • Q12825
    • Q13266
    • Q13267
    • Q13775
    • Q5TBT0
    • Q5TBT2
    • Q5TF23
    • Q5TF24
    • Q8N1T8
    • Q8N8J3
    • Q8WXK8
    • Q8WXK9
    • Q96AK9
    • Q96DQ5
    • Q96J76
    • Q96QT5
    • Q9H555
    • Q9UGD7
    • Q9UGD8
    • Q9UN10

    Protein attributes for DST Gene

    Size:
    7570 amino acids
    Molecular mass:
    860662 Da
    Quaternary structure:
    • Homodimer. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Interacts with the neuronal intermediate filament protein, PRPH. Interacts with DES. Interacts with SYNE3 (By similarity). Isoform 1 and isoform 6 can homodimerize (via N-terminus). Isoform 1 interacts (via N-terminus) with ACTN2. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Isoform 3 interacts (via N-terminus) with COL17A1 (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ITGB4 isoform beta-4a (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ERBIN (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermediate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2. Isoform 9 interacts with TMEM108 (By similarity).
    SequenceCaution:
    • Sequence=AAA35538.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAA57185.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB70870.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04449.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04848.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DST Gene

    Alternative splice isoforms for DST Gene

neXtProt entry for DST Gene

Post-translational modifications for DST Gene

  • Ubiquitination at isoforms=85470
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DST Gene

Domains & Families for DST Gene

Gene Families for DST Gene

Suggested Antigen Peptide Sequences for DST Gene

Graphical View of Domain Structure for InterPro Entry

Q03001

UniProtKB/Swiss-Prot:

DYST_HUMAN :
  • Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermedaite filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
Domain:
  • Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermedaite filaments proteins and most likely involves recognition sites located in the rod domain of these keratins.
  • The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
genes like me logo Genes that share domains with DST: view

Function for DST Gene

Molecular function for DST Gene

UniProtKB/Swiss-Prot Function:
Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional mesh. Regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Mediates docking of the dynein/dynactin motor complex to vesicle cargos for retrograde axonal transport through its interaction with TMEM108 and DCTN1 (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity.
UniProtKB/Swiss-Prot Function:
Isoform 6: required for bundling actin filaments around the nucleus.
UniProtKB/Swiss-Prot Function:
Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.

Gene Ontology (GO) - Molecular Function for DST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005178 integrin binding IPI 11375975
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12482924
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with DST: view
genes like me logo Genes that share phenotypes with DST: view

Human Phenotype Ontology for DST Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DST Gene

Localization for DST Gene

Subcellular locations from UniProtKB/Swiss-Prot for DST Gene

Cytoplasm, cytoskeleton. Cell projection, axon. Note=Associates with intermediate filaments, actin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By similarity). Associated at the growing distal tip of microtubules. {ECO:0000250}.
Isoform 1: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone. Note=Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane. {ECO:0000250}.
Isoform 2: Cytoplasm, cytoskeleton. Note=Colocalizes both cortical and cytoplasmic actin filaments. {ECO:0000250}.
Isoform 3: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Note=Localizes to actin and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes. {ECO:0000250}.
Isoform 6: Nucleus. Nucleus envelope. Membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton. Note=Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in sensory neurons. {ECO:0000250}.
Isoform 7: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons.
Isoform 8: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cell membrane; Lipid-anchor.

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 DST gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
mitochondrion 2
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane TAS 2461961
GO:0005634 nucleus IDA,IEA 21630459
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm ISS --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with DST: view

Pathways & Interactions for DST Gene

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

Gene Ontology (GO) - Biological Process for DST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP,IEA 19403692
GO:0007155 cell adhesion IEA --
GO:0007229 integrin-mediated signaling pathway NAS 11375975
GO:0008090 retrograde axonal transport ISS --
GO:0009611 response to wounding IDA 19403692
genes like me logo Genes that share ontologies with DST: view

No data available for SIGNOR curated interactions for DST Gene

Drugs & Compounds for DST Gene

(1) Drugs for DST Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(12) Additional Compounds for DST Gene - From: Novoseek

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

Transcripts for DST Gene

mRNA/cDNA for DST Gene

(40) REFSEQ mRNAs :
(3) Selected AceView cDNA sequences:
(35) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1:
SP2:
SP3:
SP4:
SP5: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a · 46b ^ 47a ·
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 47b ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 71 ^ 72 ^ 73 ^ 74a · 74b ^ 75a · 75b ^ 76 ^ 77a · 77b ^ 78a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - - - -
SP9: - -
SP10: -
SP11:
SP12:
SP13:

Relevant External Links for DST Gene

GeneLoc Exon Structure for
DST
ECgene alternative splicing isoforms for
DST

Expression for DST Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DST Gene

This gene is overexpressed in Blymphocyte (31.7) and Neutrophil (6.2).

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



Protein tissue co-expression partners for DST Gene

NURSA nuclear receptor signaling pathways regulating expression of DST Gene:

DST

SOURCE GeneReport for Unigene cluster for DST Gene:

Hs.604915

mRNA Expression by UniProt/SwissProt for DST Gene:

Q03001-DYST_HUMAN
Tissue specificity: Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes.

Evidence on tissue expression from TISSUES for DST Gene

  • Nervous system(5)
  • Skin(4.8)
  • Eye(4.6)
  • Intestine(4.5)
  • Liver(4.5)
  • Lung(3.9)
  • Heart(2.7)
  • Muscle(2.6)
  • Blood(2.2)
  • Kidney(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • lacrimal apparatus
  • lip
  • mouth
Thorax:
  • heart
  • heart valve
  • lung
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with DST: view

Primer Products

No data available for mRNA differential expression in normal tissues for DST Gene

Orthologs for DST Gene

This gene was present in the common ancestor of animals.

Orthologs for DST Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DST 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DST 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
-- 35
  • 3 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DST 34 35
  • 85.19 (n)
mouse
(Mus musculus)
Mammalia Dst 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DST 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves DST 35
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 86 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii DST 35
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shot 34 35
  • 44.11 (n)
worm
(Caenorhabditis elegans)
Secernentea vab-10 34 35
  • 42.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 72 (a)
OneToMany
Species where no ortholog for DST 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)
  • rat (Rattus norvegicus)
  • 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 DST Gene

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

Paralogs for DST Gene

Variants for DST Gene

Sequence variations from dbSNP and Humsavar for DST Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs201045495 Pathogenic 56,620,664(+) ACGCT(A/G)AAGCA intron-variant, reference, stop-gained
rs398122819 Pathogenic 56,476,257(-) TTGGA(-/A)GCTTT reference, frameshift-variant
rs398122943 Pathogenic 56,620,289(-) TTACC(A/T)GACGA intron-variant, reference, stop-gained
rs775912185 Likely pathogenic 56,642,767(+) ACGGT(-/A)ACTAT intron-variant, reference, frameshift-variant
rs112640831 Likely benign 56,629,273(+) TGAAC(A/G/T)TTTTG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv1779e212 CNV loss 25503493
dgv3319n106 CNV deletion 24896259
esv1002581 CNV deletion 20482838
esv1047493 CNV insertion 17803354
esv2555940 CNV deletion 19546169
esv2672362 CNV deletion 23128226
esv2732121 CNV deletion 23290073
esv3303382 CNV mobile element insertion 20981092
esv3305103 CNV mobile element insertion 20981092
esv3306537 CNV mobile element insertion 20981092
esv3340117 CNV insertion 20981092
esv3396904 CNV insertion 20981092
esv3423201 CNV insertion 20981092
esv3539786 CNV deletion 23714750
esv3571088 CNV loss 25503493
esv3609105 CNV loss 21293372
nsv1034418 CNV loss 25217958
nsv1073561 CNV deletion 25765185
nsv1073562 CNV deletion 25765185
nsv1122129 CNV deletion 24896259
nsv1131965 CNV deletion 24896259
nsv1133374 CNV tandem duplication 24896259
nsv436516 CNV deletion 17901297
nsv475313 CNV novel sequence insertion 20440878
nsv476250 CNV novel sequence insertion 20440878
nsv478598 CNV novel sequence insertion 20440878
nsv508408 CNV deletion 20534489
nsv5314 CNV insertion 18451855
nsv5315 CNV deletion 18451855
nsv820249 CNV loss 19587683
nsv830666 CNV gain 17160897
nsv950181 CNV deletion 24416366
nsv965728 CNV duplication 23825009

Variation tolerance for DST Gene

Residual Variation Intolerance Score: 0.199% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.71; 99.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DST Gene

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

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

Disorders for DST Gene

MalaCards: The human disease database

(31) MalaCards diseases for DST Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type vi
  • hereditary sensory and autonomic neuropathy type vi
epidermolysis bullosa simplex, sutosomal recessive 2
  • epidermolysis bullosa simplex, autosomal recessive 2
bullous pemphigoid
  • benign pemphigus
bullous skin disease
  • skin diseases bullous
herpes gestationis
  • gestational herpes
- elite association - COSMIC cancer census association via MalaCards
Search DST in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYST_HUMAN
  • Epidermolysis bullosa simplex, autosomal recessive 2 (EBSB2) [MIM:615425]: A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques. {ECO:0000269 PubMed:20164846, ECO:0000269 PubMed:22113475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuropathy, hereditary sensory and autonomic, 6 (HSAN6) [MIM:614653]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. {ECO:0000269 PubMed:22522446}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DST

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

No data available for Genatlas for DST Gene

Publications for DST Gene

  1. Cloning and characterization of the neural isoforms of human dystonin. (PMID: 8575775) Brown A. … Kothary R. (Genomics 1995) 3 4 22 64
  2. Identification of a second protein product of the gene encoding a human epidermal autoantigen. (PMID: 8010969) Hopkinson S.B. … Jones J.C. (Biochem. J. 1994) 3 4 22 64
  3. Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends. (PMID: 8345227) Elgart G.W. … Stanley J.R. (J. Invest. Dermatol. 1993) 3 4 22 64
  4. Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins. (PMID: 1712022) Tanaka T. … Stanley J.R. (J. Biol. Chem. 1991) 3 4 22 64
  5. Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. (PMID: 1717441) Sawamura D. … Uitto J. (J. Biol. Chem. 1991) 3 4 22 64

Products for DST Gene

Sources for DST Gene

Content
Loading form....