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 intermediat... See more...

Aliases for DST Gene

Aliases for DST Gene

  • Dystonin 2 3 4 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, Autosomal Recessive 2. Among its related pathways are Degradation of the extracellular matrix and Cell junction organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is MACF1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for DST Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DST Gene

Genomics for DST Gene

GeneHancer (GH) Regulatory Elements for DST Gene

Promoters and enhancers for DST 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
GH06J056952 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 0.0 -41 3.4 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A TCF12 NRF1 POLR2G PHF8 BEND6 DST lnc-RAB23-10 KIAA1586
GH06J056637 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 505.5 +313.8 313751 6.8 ZNF217 CTCF TCF12 JUND FOS POLR2A TCF7 REST CUX1 ZBTB25 DST lnc-COL21A1-4 RF00104-025
GH06J056686 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 513 +263.9 263944 7.8 POLR2G ZNF10 KDM6A ZBTB25 SMARCC2 SKI TEAD1 TBX3 ZKSCAN8 ZSCAN9 DST L13714-396 lnc-COL21A1-9 lnc-COL21A1-8
GH06J056469 Promoter 0.4 EPDnew 500 +484.7 484748 0.1 ATF7 DST lnc-COL21A1-2 lnc-COL21A1-3
GH06J057312 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.2 -361.0 -361039 7 HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A TCF12 NRF1 POLR2G JUND PRIM2 BEND6 BAG2 ZNF451-AS1 DST RAB23 piR-38352-471
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DST on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DST

Top Transcription factor binding sites by QIAGEN in the DST gene promoter:
  • IRF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DST Gene

Genomic Locations for DST Gene
chr6:56,457,987-56,954,649
(GRCh38/hg38)
Size:
496,663 bases
Orientation:
Minus strand
chr6:56,322,785-56,819,426
(GRCh37/hg19)
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).
    Miscellaneous:
    • [Isoform 4]: Incomplete sequence.
    • [Isoform 5]: Incomplete sequence. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 6]: Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38).
    • [Isoform 7]: Incomplete sequence.
    • [Isoform 8]: Probably myristoylated on Gly-2. Probably S-palmitoylated on Cys-5 and Cys-7.
    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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC04449.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC04848.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys5470
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DST Gene

Domains & Families for DST Gene

Gene Families for DST Gene

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

Protein Domains for DST Gene

Suggested Antigen Peptide Sequences for DST Gene

GenScript: Design optimal peptide antigens:
  • Hemidesmosomal plaque protein (DYST_HUMAN)
  • Dystonin (Q5TBT1_HUMAN)
  • Dystonin (Q5TF24_HUMAN)
  • DST protein (Q86T18_HUMAN)
  • DST protein (Q9BSP9_HUMAN)

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 intermediate 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 intermediate 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.

Phenotypes From GWAS Catalog for DST Gene

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,IEA 12482924
GO:0008017 microtubule binding IBA,IEA 21873635
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

Clone 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. Cytoplasm, cytoskeleton, stress fiber. 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 UniProtKB:Q91ZU6}.
[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. Cytoplasm, cytoskeleton, stress fiber. 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 UniProtKB:Q91ZU6}.
[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
cytosol 5
nucleus 4
endoplasmic reticulum 4
mitochondrion 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

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,HDA 21630459
GO:0005635 nuclear envelope IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 11751855
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

Pathways by source for DST Gene

2 GeneGo (Thomson Reuters) pathways for DST Gene
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments

SIGNOR curated interactions for DST Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DST Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA,IMP 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

Drugs & Compounds for DST Gene

(3) Drugs for DST Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) 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

12 REFSEQ mRNAs :
44 NCBI additional mRNA sequence :
40 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for DST Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DST Gene



Protein tissue co-expression partners for DST Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DST 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
-- 31
  • 3 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DST 31 30
  • 85.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dst 31
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DST 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves DST 31
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 86 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii DST 31
  • 42 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shot 31 30
  • 44.11 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-10 31 30
  • 42.94 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DST: view image

Paralogs for DST Gene

(15) SIMAP similar genes for DST Gene using alignment to 20 proteins:

  • DYST_HUMAN
  • E7ERU0_HUMAN
  • E7ERU2_HUMAN
  • E7ERX3_HUMAN
  • E7ESK0_HUMAN
  • E7ETB9_HUMAN
  • E9PEB9_HUMAN
  • E9PHM6_HUMAN
  • F6QMI7_HUMAN
  • F8W9J4_HUMAN
  • H0YAT7_HUMAN
  • H0YBX0_HUMAN
  • H0YC65_HUMAN
  • H0YC82_HUMAN
  • J3QTQ0_HUMAN
  • L8E8Z4_HUMAN
  • Q5T0V7_HUMAN
  • Q6P0N6_HUMAN
  • Q86T18_HUMAN
  • Q9BSP9_HUMAN
genes like me logo Genes that share paralogs with DST: view

Variants for DST Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DST Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
638844 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 56,618,061(-) G/T MISSENSE_VARIANT,INTRON_VARIANT
639025 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 56,618,563(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
639219 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 56,642,646(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
639415 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 56,631,960(-) G/A MISSENSE_VARIANT
639498 Uncertain Significance: Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 56,629,341(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DST Gene

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)

Additional Variant Information for DST Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DST Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for DST

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 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 23 54
  2. Identification of a second protein product of the gene encoding a human epidermal autoantigen. (PMID: 8010969) Hopkinson SB … Jones JC (The Biochemical journal 1994) 3 4 23 54
  3. Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends. (PMID: 8345227) Elgart GW … Stanley JR (The Journal of investigative dermatology 1993) 3 4 23 54
  4. 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 (The Journal of biological chemistry 1991) 3 4 23 54
  5. 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 JR (The Journal of biological chemistry 1991) 3 4 23 54

Products for DST Gene

Sources for DST Gene