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Aliases for DST Gene

Aliases for DST Gene

  • Dystonin 2 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 Degradation of the extracellular matrix and Alpha6-Beta4 Integrin Signaling Pathway. GO annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is EVPL.

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.

  • 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DST Gene

Genomics for DST Gene

Regulatory Elements for DST Gene

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

ENSRs around DST on UCSC Golden Path with GeneCards custom track

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
    • 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 ERBB2IP (via C-terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermadiate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2.
    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}; Sequence=CAI14341.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14989.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16609.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16610.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20330.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20332.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22044.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22045.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DST Gene

    Alternative splice isoforms for DST Gene

neXtProt entry for DST Gene

Proteomics data for DST Gene at MOPED

Post-translational modifications for DST Gene

  • Ubiquitination at Lys 5470
  • 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.
  • Contains 5 plectin repeats.
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.
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 2 EF-hand domains.
  • Contains 1 GAR domain.
  • Contains 1 SH3 domain.
Similarity:
  • Contains 5 plectin repeats.
  • Contains 20 spectrin repeats.
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.
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:0005515 protein binding IEA,IPI 12482924
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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. Note=Associates with intermediate filaments, acin 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
Jensen Localization Image for DST Gene COMPARTMENTS Subcellular localization image for DST gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 4
mitochondrion 2
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane TAS 2461961
GO:0005925 focal adhesion IDA 21423176
GO:0015629 NOT actin cytoskeleton IDA 10428034
GO:0015630 microtubule cytoskeleton IDA 10428034
GO:0016021 integral component of membrane 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:0009611 response to wounding IDA 19403692
GO:0030011 maintenance of cell polarity IMP 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

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

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 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, MOPED, and MaxQB for DST Gene



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.
genes like me logo Genes that share expression patterns with DST: view

Protein tissue co-expression partners for DST Gene

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DST 35
  • 85.19 (n)
  • 90.7 (a)
DST 36
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DST 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dst 36
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DST 36
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
-- 36
  • 3 (a)
OneToMany
chicken
(Gallus gallus)
Aves DST 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 86 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii DST 36
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shot 35
  • 44.11 (n)
  • 32.99 (a)
shot 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-10 36
  • 20 (a)
OneToMany
vab-10 35
  • 42.94 (n)
  • 28.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToMany
Species with no ortholog for DST:
  • 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

Paralogs for DST Gene

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

Variants for DST Gene

Sequence variations from dbSNP and Humsavar for DST Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs35014998 - 56,628,047(+) GGCTG(A/C)TTTTC reference, missense
rs16888053 - 56,607,000(+) GCATC(C/T)GCTGA intron-variant, reference, missense
rs4712138 - 56,598,612(+) CTTCC(C/T)GTGAC reference, missense
rs4715631 - 56,552,747(+) AGAGG(C/T)TCCCT reference, missense
rs721475 -- 56,483,932(-) TGCTT(A/G)TGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830666 CNV Gain 17160897
nsv885912 CNV Loss 21882294
nsv820249 CNV Loss 19587683

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

HapMap Linkage Disequilibrium report
DST
Human Gene Mutation Database (HGMD)
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, 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
epidermolysis bullosa simplex due to bp230 deficiency
  • dst-related epidermolysis bullosa simplex
bullous pemphigoid
  • benign pemphigus
bullous skin disease
  • skin diseases bullous
- 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
  • 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.
  • 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.

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. Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies. (PMID: 2461961) Stanley J.R. … Roop D. (J. Clin. Invest. 1988) 2 3 4 67
  2. Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6. (PMID: 2276744) Sawamura D. … Uitto J. (Genomics 1990) 2 3 23
  3. Serum anti-BPAG1 auto-antibody is a novel marker for human melanoma. (PMID: 20479946) Shimbo T. … Kaneda Y. (PLoS ONE 2010) 3 23
  4. Structural analysis of the plakin domain of bullous pemphigoid antigen1 (BPAG1) suggests that plakins are members of the spectrin superfamily. (PMID: 17161423) Jefferson J.J. … Liem R.K. (J. Mol. Biol. 2007) 3 23
  5. Interferon-gamma down-regulates expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1) in epidermal keratinocytes via novel chimeric sequences of ISRE and GAS. (PMID: 16512878) Kaneko T. … Uitto J. (Exp. Dermatol. 2006) 3 23

Products for DST Gene

Sources for DST Gene

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