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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DST Gene

protein-coding GIFtS: 62
GCID: GC06M056370

dystonin

(Previous names: bullous pemphigoid antigen 1, 230/240kDa )
(Previous symbol: BPAG1)

Explore 48 diseases affiliated with
DST via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dystonin¹		DT² ³
BPAG1¹ ² ³ ⁵		D6S1101² ⁵
BP240¹ ² ³		FLJ13425¹
BPA¹ ² ³		FLJ21489¹
DMH² ³ ⁵		FLJ30627¹
CATX-15¹ ²		FLJ32235¹
MACF2¹ ²		CATX15²
Bullous Pemphigoid Antigen 1, 230/240kDa¹ ²		HSAN6²
KIAA0728¹ ³		Trabeculin-Beta¹
Bullous Pemphigoid Antigen 1² ³		230 KDa Bullous Pemphigoid Antigen³
Dystonia Musculorum Protein² ³		BP230³
Hemidesmosomal Plaque Protein² ³		Bullous Pemphigoid Antigen³
230/240 KDa Bullous Pemphigoid Antigen² ³

External Ids:	HGNC: 1090¹	Entrez Gene: 667²	Ensembl: ENSG00000151914⁷	OMIM: 113810⁵	UniProtKB: Q03001³

Export aliases for DST gene to outside databases

Previous GC identifers: GC06M056430 GC06M056158

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DST:

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)

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001

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

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

Function: Isoform 6: required for bundling actin filaments around the nucleus (By similarity)

Function: Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow

axonal transport

Gene Wiki entry for DST (Dystonin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DST gene promoter:
PPAR-gamma1 IRF-1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 12): DST promoter sequence

Search SABiosciences Chromatin IP Primers for DST

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DST

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.1 Ensembl cytogenetic band: 6p12.1 HGNC cytogenetic band: 6p12.1

DST Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DST gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M056370: view genomic region (about GC identifiers)

Start:	56,322,785 bp from pter	End:	56,819,426 bp from pter
Size:	496,642 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001 (See protein sequence)

Recommended Name: Dystonin

Size: 7570 amino acids; 860662 Da

Subunit: 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

Subcellular location: 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

Subcellular location: Isoform 1: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, Z line.

Cytoplasm, myofibril, sarcomere, H zone (By similarity). Note=Localizes to microtubules and actin microfilaments

throughout the cytoplasm and at focal contact attachments at the plasma membrane (By similarity)

Subcellular location: Isoform 2: Cytoplasm, cytoskeleton (By similarity). Note=Colocalizes both cortical and

cytoplasmic actin filaments (By similarity)

Subcellular location: 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

Subcellular location: Isoform 6: Nucleus (By similarity). Nucleus envelope. Membrane; Single-pass membrane protein (By

similarity). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Cytoplasm, cytoskeleton.

Membrane; Single-pass membrane protein. 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

Subcellular location: Isoform 7: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with axonal

microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons

Subcellular location: Isoform 8: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Cell

membrane; Lipid-anchor (By similarity)

Sequence caution: Sequence=AAA35538.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown

origin in the C-terminal part; Sequence=AAA57185.1; Type=Erroneous gene model prediction; Sequence=BAB70870.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04449.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=BAC04848.1; Type=Erroneous initiation; Note=Translation N-terminally

extended; Sequence=CAI14341.1; Type=Erroneous gene model prediction; Sequence=CAI14989.1; Type=Erroneous gene model

prediction; Sequence=CAI16609.1; Type=Erroneous gene model prediction; Sequence=CAI16610.1; Type=Erroneous gene model

prediction; Sequence=CAI20330.1; Type=Erroneous gene model prediction; Sequence=CAI20332.1; Type=Erroneous gene model

prediction; Sequence=CAI22044.1; Type=Erroneous gene model prediction; Sequence=CAI22045.1; Type=Erroneous gene model

prediction;

1 PDB 3D structure from and Proteopedia for DST:

3GJO (3D)

Secondary accessions: B7Z3H1 O94833 Q12825 Q13266 Q13267 Q13775 Q5TBT0 Q5TBT2 Q5TF23 Q5TF24 Q8N1T8

Q8N8J3 Q8WXK8 Q8WXK9 Q96AK9 Q96DQ5 Q96J76 Q96QT5 Q9H555 Q9UGD7 Q9UGD8 Q9UN10

Alternative promoter usage, Alternative splicing: 8 isoforms: Q03001-7 Q03001-8 Q03001-3 Q03001-9 Q03001-10 Q03001-11 Q03001-12 Q03001-13

(Probably myristoylated on Gly-2 (By similarity). Probably S-palmitoylated on Cys-5 and Cys-7 (By similarity))

Explore the universe of human proteins at neXtProt for DST: NX_Q03001

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q03001

DST Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001714.1 NP_056363.2

ENSEMBL proteins:

ENSP00000244364 ENSP00000359824 ENSP00000431020 ENSP00000354508 ENSP00000430472

ENSP00000431121 ENSP00000404924 ENSP00000431030 ENSP00000359801 ENSP00000428068

ENSP00000431003 ENSP00000393082 ENSP00000429075 ENSP00000429221 ENSP00000359790

ENSP00000359805 ENSP00000400883 ENSP00000393645 ENSP00000307959

Reactome Protein details: Q03001
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for DST
	GenScript Custom Purified and Recombinant Proteins Services for DST
	Novus Biologicals DST Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DST

Gene Ontology (GO): 5/22 cellular component terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005604	basement membrane	TAS	2461961
GO:0005634	nucleus	IDA	--
GO:0005635	nuclear envelope	IEA	--
GO:0005737	cytoplasm	ISS	--
GO:0005789	endoplasmic reticulum membrane	IEA	--

DST for ontologies About GeneDecksing

DST Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DST
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for DST
	GenScript Superior Antibodies for DST
	Novus Biologicals DST Antibodies
	Search for Antibodies for DST at Abcam
	Uscn Antibodies for DST
	Search ThermoFisher Antibodies for DST

Assay Products for DST:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DST
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DST

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DST for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR003108 GAS2_dom

IPR018247 EF_Hand_1_Ca_BS

IPR002017 Spectrin_repeat

IPR001715 CH-domain

IPR011992 EF-hand-like_dom

Graphical View of Domain Structure for InterPro Entry Q03001

ProtoNet protein and cluster: Q03001

4 Blocks protein families:

IPB001101 Plectin repeat

IPB001589 Actin-binding

IPB001715 Calponin-like actin-binding

IPB002017 Spectrin repeat

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001

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

Domain: The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the

growing microtubule plus ends

Similarity: Contains 1 actin-binding domain

Similarity: Contains 2 CH (calponin-homology) domains

Similarity: Contains 2 EF-hand domains

Similarity: Contains 1 GAR domain

Similarity: Contains 5 plectin repeats

Similarity: Contains 1 SH3 domain

Similarity: Contains 20 spectrin repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001

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

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

Function: Isoform 6: required for bundling actin filaments around the nucleus (By similarity)

Function: Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow

axonal transport

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DST Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DST
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate DST (see all 18):
		hsa-miR-4307 hsa-miR-539 hsa-miR-202 hsa-miR-1205 hsa-miR-1184 hsa-miR-144 hsa-miR-3908 hsa-miR-2276

		SwitchGear 3'UTR luciferase reporter plasmids (see all 2): DST 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DST (see all 3) OriGene shRNA RFP: DST OriGene siRNA: DST
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DST

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DST

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DST (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DST (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DST (NM_001723)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DST
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DST

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DST
		Search LifeMap BioReagents cell lines for DST

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DST

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

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	19632184
GO:0005524	ATP binding	--	--

DST for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Dst^tm1Efu for DST
     15/16 MGI mutant phenotypes (inferred from 21 alleles) (MGI details for Dst) (see all 16):

behavior/neurological	digestive/alimentary	growth/size	hematopoietic system	homeostasis/metabolism
integument	limbs/digits/tail	mortality/aging	muscle	nervous system
no phenotypic analysis	other	pigmentation	renal/urinary system	reproductive system

DST for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Assembly of collagen fibrils and other multimeric structures	0.65

Cytoskeleton remodeling Neurofilaments

Cytoskeleton remodeling Neurofilaments

1.00

Cytoskeleton remodeling_Neurofilaments

0.91

Cytoskeleton remodeling Keratin filaments

Cytoskeleton remodeling Keratin filaments

1.00

Cytoskeleton remodeling_Keratin filaments

0.91

Cell-cell junction organization

Cell junction organization

0.69

Cell-Cell communication

0.45

Type I hemidesmosome assembly

Type I hemidesmosome assembly

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for DST

	Cytoskeleton remodeling Neurofilaments
	Cytoskeleton remodeling Keratin filaments

2 GeneGo (Thomson Reuters) Pathways for DST

	Cytoskeleton remodeling Keratin filaments
	Cytoskeleton remodeling Neurofilaments

1 BioSystems Pathway for DST

Alpha6-Beta4 Integrin Signaling Pathway

5/6 Reactome Pathways for DST (see all 6)

	Extracellular matrix organization
	Assembly of collagen fibrils and other multimeric structures
	Type I hemidesmosome assembly
	Cell junction organization
	Cell-Cell communication

DST for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DST

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/55 Interacting proteins for DST (Q03001^{1, 2, 3} ENSP00000359790⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DISC1	Q9NRI5¹^,³, ENSP00000355596⁴	EBI-310783,EBI-529989 I2D: score=2 STRING: ENSP00000355596
MAPRE1	Q15691¹^,³, ENSP00000364721⁴	EBI-310783,EBI-1004115 I2D: score=1 STRING: ENSP00000364721
PRKD2	Q9BZL6²^,³	MINT-61759 I2D: score=2
SMAD9	O15198²^,³	MINT-62149 I2D: score=2
CALM1	P62158³	I2D: score=1

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000226	microtubule cytoskeleton organization	IDA	10428034
GO:0007010	cytoskeleton organization	IMP	19403692
GO:0007050	cell cycle arrest	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0007229	integrin-mediated signaling pathway	NAS	11375975

DST for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DST for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DST
10/13 Novoseek chemical compound relationships for DST gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	74.2	1	8357788 (1)
bpas	72.2	1	7490478 (1)
netropsin	50.2	8	8843321 (3), 8906887 (2)
nacl	34.5	5	1379792 (2), 1904470 (1), 8027584 (1), 8906887 (1)
formamide	29.6	1	11444374 (1)
pyrrole	22.3	2	8052641 (1), 10623588 (1)
12-o-tetradecanoylphorbol 13-acetate	14.9	8	11641060 (5), 8688920 (1)
cycloheximide	11.1	3	7814399 (1), 11641060 (1)
calcium	5.16	10	11641060 (4), 7852645 (1), 1426040 (1)
oligonucleotide	0	2	8843321 (2)

Search CenterWatch for drugs/clinical trials and news about DST / DYST

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DST gene (7 alternative transcripts):

NM_001723.5 NM_015548.4 NM_001144769.1 NM_001144770.1 NM_001144771.1 NM_020388.3 NM_183380.2

Unigene Clusters for DST:

Dystonin

Hs.604915 [show with all ESTs], Hs.669931 , Hs.728928 [show with all ESTs], Hs.735651 [show with all ESTs]

Unigene Representative Sequences: NM_015548, AL049215, U31850, BQ277050

18/37 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 37):

ENST00000244364(uc003pcx.4 uc003pcy.4) ENST00000370788(uc021zaz.1)

ENST00000523292 ENST00000466429(uc003pcv.4) ENST00000518464 ENST00000482156(uc003pcw.4)

ENST00000361203 ENST00000523597 ENST00000524216 ENST00000523943 ENST00000492944

ENST00000517840 ENST00000487754(uc003pda.4) ENST00000459869 ENST00000340834

ENST00000524186 ENST00000520144 ENST00000518398

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DST Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DST
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate DST (see all 18):
		hsa-miR-4307 hsa-miR-539 hsa-miR-202 hsa-miR-1205 hsa-miR-1184 hsa-miR-144 hsa-miR-3908 hsa-miR-2276

		SwitchGear 3'UTR luciferase reporter plasmids (see all 2): DST 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DST (see all 3) OriGene shRNA RFP: DST OriGene siRNA: DST
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DST

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DST (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DST (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DST (NM_001723)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DST
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DST

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DST Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat DST
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DST
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DST

Additional cDNA sequence: U31851.1

24/43 DOTS entries (see all 43):

DT.91733372 DT.444773 DT.314438 DT.100021151 DT.97847550 DT.92444432 DT.100843501 DT.97792721

DT.101974148 DT.100843498 DT.203725 DT.121362799 DT.99974171 DT.431927 DT.95234825 DT.97791683

DT.97847549 DT.100660346 DT.121362790 DT.91755198 DT.100843507 DT.92444434 DT.75169266 DT.92444433

3 AceView cDNA sequences:

BF802897 BQ342858 AJ707571

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for DST (see all 13) About this scheme

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:																											-		-		-

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:

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:

ExUns:	71	^	72	^	73	^	74a	·	74b	^	75a	·	75b	^	76	^	77a	·	77b	^	78a	·
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for DST

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DST expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAGATCGAA

About this image

DST expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Trachea

Basal Cells

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See DST Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DST

SOURCE GeneReport for Unigene clusters: Hs.604915 Hs.669931 Hs.728928 Hs.735651

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001

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

SABiosciences Expression via Pathway-Focused PCR Arrays including DST:

Cell Junction PathwayFinder in human mouse rat

Focal Adhesions in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DST

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DST gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DST¹	dystonin	74.21(n) 75.95(a)		421884 XM_419901.3 XP_419901.3
lizard (Anolis carolinensis)	Reptilia	DST⁶	--	53(a)	1 ↔ 1	1(162451253-162708258)
African clawed frog (Xenopus laevis)	Amphibia	BX842928.1²	--	81.58(n)		BX842928.1
zebrafish (Danio rerio)	Actinopterygii	CA471988.1²	--	78.3(n)		CA471988.1
fruit fly (Drosophila melanogaster)	Insecta	shot¹	short stop	44.15(n) 32.2(a)		36542 NM_166019.3 NP_725339.1
worm (Caenorhabditis elegans)	Secernentea	vab-10¹	Protein VAB-10	39.85(n) 23.79(a)		173058 NM_001026684.2 NP_001021855.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DST gene

MACF1² DSP² EVPLL² EVPL² EPPK1² PPL² PLEC²

16 SIMAP similar genes for DST using alignment to 20 protein entries: DYST_HUMAN (see all proteins):

CATX-15 ACF7 PLEC HSpTB1 UTRN DMD

MACF1 SPTBN2 CLMN ACTN1 SYNE1 FLNA

DSP variant protein SPTBN1 SPTBN4 SYNE2

DST for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs41271848^1,2	F,	--	56159088(+)	`ATGAAC/TGCACT`	1	--	ut3¹		2		WA NA	238
rs116715387^1,2	C,F,	--	56159309(+)	`TAAATC/TATCTC`	1	--	ut3¹		1		WA	118
rs79455288^1,2	C,F,	--	56159477(+)	`TGCCCA/G/TGCACG`	2	--	ut3¹		2		WA NA	238
rs72877336^1,2	C,	--	56161231(+)	`AAATGC/GAGACC`	1	--	int¹		0	--	--	--	--
rs73465833^1,2	C,F,	--	56161509(+)	`AAAAGG/AAAAAA`	1	--	int¹		2		WA	4
rs78766794^1,2	F,	--	56162012(+)	`GAATGT/CTCAAG`	1	--	int¹		1		WA	118
rs111771501^1,2		--	56162180(+)	`CAACAC/ACACGA`	1	--	int¹		1		CSA	2
rs79008893^1,2	F,	--	56162181(+)	`AACAAC/TACGAG`	1	--	int¹		3		WA NA EA	358
rs61196933^1,2	C,	--	56162767(+)	`CAGACA/GAGAAA`	1	--	int¹		3		WA CSA	121
rs79248714^1,2		--	56162859(+)	`TTATCA/GTTAAG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DST (56322785 - 56572785 bp, first 250kb of DST)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for DST
7 CNVs: 93741 81408 22719 59349 93740 99551 93742
Human Gene Mutation Database (HGMD): DST

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DST

DNA2.0 Custom Variant and Variant Library Synthesis for DST

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DST for disorders About GeneDecksing

OMIM gene information: 113810 OMIM disorders: --

UniProtKB/Swiss-Prot: DYST_HUMAN, Q03001

Defects in DST are the cause of hereditary sensory and autonomic neuropathy type 6 (HSAN6) [MIM:614653]. HSAN6

is 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

20/48 diseases for DST (see all 48): About MalaCards

bullous pemphigoid epidermolysis bullosa epidermolysis bullosa acquisita epidermolysis bullosa simplex

neurodegeneration junctional epidermolysis bullosa pemphigus foliaceus ocular cicatricial pemphigoid

cicatricial pemphigoid herpes gestationis lichen planus pemphigoid gestationis

pemphigus trench fever autoimmune hemolytic anemia hemolytic anemia

crescentic glomerulonephritis dermatitis herpetiformis bullous skin disease skin disease

1 disease from the University of Copenhagen DISEASES database for DST:

Bullous pemphigoid

10/28 Novoseek disease relationships for DST gene (see all 28) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pemphigoid bullous	97.9	378	2180994 (4), 11069628 (4), 7517983 (4), 1904470 (3) (see all 99)
gabeb	94	11	9205513 (2), 9666835 (2), 9366826 (1), 9077475 (1) (see all 8)
epidermolysis bullosa acquisita	89.4	19	2180994 (3), 8370962 (2), 1739295 (2), 1430358 (1) (see all 15)
skin diseases bullous	86.4	8	1379792 (1), 1717441 (1), 20479946 (1), 7543794 (1) (see all 8)
epidermolysis bullosa junctional	83.3	3	8618019 (1), 9640376 (1), 9767254 (1)
pemphigoid cicatricial	78.9	7	8752852 (2), 1629629 (1), 9292089 (1), 12746470 (1) (see all 6)
pemphigus foliaceus	77.8	4	1998370 (2), 8829509 (1)
pemphigus	77.1	1	1497365 (1)
herpes gestationis	77	4	8874743 (2), 17875879 (1), 1512460 (1)
epidermolysis bullosa	75	1	2045679 (1)

Human Genome Epidemiology (HuGE) Navigator: DST (15 documents)

Export disorders for DST gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DST gene, integrated from 9 sources (see all 271):
(articles sorted by number of sources associating them with DST)

Utopia: connect your pdf to the dynamic
world of online information

Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies. (PubMed id 2461961)^{1, 2, 3} Stanley J.R.... Roop D. (1988)
Cloning and characterization of the neural isoforms of human dystonin. (PubMed id 8575775)^{1, 2, 9} Brown A.... Kothary R. (1995)
Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins. (PubMed id 1712022)^{1, 2, 9} Tanaka T.... Stanley J.R. (1991)
Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6. (PubMed id 2276744)^{1, 3, 9} Sawamura D....Uitto J. (1990)
Identification of a second protein product of the gene encoding a human epidermal autoantigen. (PubMed id 8010969)^{1, 2, 9} Hopkinson S.B. and Jones J.C. (1994)
Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. (PubMed id 1717441)^{1, 2, 9} Sawamura D.... Uitto J. (1991)
Cloning of the 5' mRNA for the 230-kD bullous pemphigoid antigen by rapid amplification of cDNA ends. (PubMed id 8345227)^{1, 2, 9} Elgart G.W. and Stanley J.R. (1993)
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. (PubMed id 22522446)^{1, 2} Edvardson S.... Elpeleg O. (2012)
BPAG1 isoform-b: complex distribution pattern in stri ated and heart muscle and association with plectin and alpha-actinin. (PubMed id 19932097)^{1, 2} Steiner-Champliaud M.F....Borradori L. (2010)
An EB1-binding motif acts as a microtubule tip locali zation signal. (PubMed id 19632184)^{1, 2} Honnappa S....Steinmetz M.O. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 667	HGNC: 1090	AceView: DST.7	Ensembl:ENSG00000151914	euGenes: HUgn667
ECgene: DST	H-InvDB: DST

(According to HUGE)
About This Section

HUGE: KIAA0728

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DST	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DST	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for DST gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DST gene:
Search GeneIP for patents involving DST

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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DST (Gene Symbol)
Dystonin
BPAG1
BP240
BPA
DMH
CATX-15
MACF2
Bullous Pemphigoid Antigen 1, 230/240kDa
KIAA0728
Bullous Pemphigoid Antigen 1
Dystonia Musculorum Protein
Hemidesmosomal Plaque Protein
230/240 KDa Bullous Pemphigoid Antigen
DT
D6S1101
FLJ13425
FLJ21489
FLJ30627
FLJ32235
CATX15
HSAN6
Trabeculin-Beta
230 KDa Bullous Pemphigoid Antigen
BP230
Bullous Pemphigoid Antigen

Pemphigoid Bullous
Autoimmune Diseases
Melanoma
Neurological Disorders
NASOPHARYNGEAL CARCINOMA
Herpes Gestationis
Epidermolysis Bullosa
Epidermolysis Bullosa Acquisita
Carcinoma Basal Cell
Pemphigus foliaceus
Epidermolysis Bullosa Junctional
Pemphigoid Cicatricial
Carcinoma Squamous Cell
SKIN LESION
Psoriasis
Autoimmune Response
GABEB
Skin Diseases
Breast Cancer
Epidermolysis Bullosa Simplex
neurodegeneration
Tumors
Skin Diseases Bullous
Metastasis
Lichen Planus
pemphigus
Pemphigus Vulgaris
Neurodegenerative Diseases Hereditary

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DST Gene

dystonin

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