DST - dystonin Gene

Homo sapiens

Also known as DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101

Gene ID: 667 | Gene type: protein coding

About DST

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:56,457,996-56,954,830 (from NCBI)

This gene has 41 transcripts (splice variants), 235 orthologues, 36 paralogues and is associated with 5 phenotypes. Ubiquitous expression in skin (RPKM 22.2), brain (RPKM 12.5) and 23 other tissues.

Summary

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]

DST Products(11)

mRNA	Protein	Name
NM_001144769.5	NP_001138241.1	dystonin isoform 2
NM_001144770.2	NP_001138242.1	dystonin isoform 3
NM_001374722.1	NP_001361651.1	dystonin isoform 6
NM_001374729.1	NP_001361658.1	dystonin isoform 7
NM_001374730.1	NP_001361659.1	dystonin isoform 8
NM_001374734.1	NP_001361663.1	dystonin isoform 5
NM_001374736.1	NP_001361665.1	dystonin isoform 4
NM_001386100.1	NP_001373029.1	dystonin isoform 9
NM_001723.7	NP_001714.1	dystonin isoform 1e precursor
NM_015548.5	NP_056363.2	dystonin isoform 1eA precursor
NM_183380.4	NP_899236.1	dystonin isoform 1

DST Protein Structure

Spectrin

EF-hand_7

GAS2

0
800
1600
2400
3200
4000
4800
5171 a.a.

Protein Preferred Names

Protein Names

dystonin

bullous pemphigoid antigen

Recombinant DST Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71840	DST Protein, Human (P.pastoris, His)	Q03001 (1M-195G)	≥95%

Related Diseases

Diseases

Alias

Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency

EBS3	Epidermolysis Bullosa Simplex, Autosomal Recessive 2
Epidermolysis Bullosa Simplex Due To Bp230 Deficiency	Dst-Related Epidermolysis Bullosa Simplex
Ebs Due To Bp230 Deficiency	Ebsb2
Epidermolysis Bullosa Simplex, Autosomal Recessive, Type 2

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6	HSAN6
Hsan Vi	Hereditary Sensory And Autonomic Neuropathy Type Vi
Familial Dysautonomia With Contractures	Neuropathy, Hereditary Sensory And Autonomic, 6
Hereditary Sensory Neuropathy Type Vi	Hsn Vi
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Bullous Pemphigoid

Benign Pemphigus	Senile Dermatitis Herpetiformis
Old Age Pemphigus	Parapemphigus
Pemphigoid	Pemphigoid Bullous
Pemphigoid, Bullous

Pemphigoid

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

Pemphigoid Gestationis

Herpes Gestationis	Gestational Pemphigoid
Gestational Herpes

Cicatricial Pemphigoid

Mucous Membrane Pemphigoid	Ocular Pemphigoid
Benign Mucous Membrane Pemphigoid	Benign Mucous Membrane Pemphigoid With Ocular Involvement
Benign Mucosal Pemphigoid	Pemphigoid, Benign Mucous Membrane
Cicatricial Pemphigoid With Ocular Involvement	Ocular Pemphigus
Cicatricial Pemphigoid Disease	Mucosal Pemphigoid
Mucosynechial Pemphigoid	Pemphigoid Cicatricial
Cicatricial Pemphigoid Involving The Eye	Ocular Cicatricial Pemphigoid

Epidermolysis Bullosa Simplex

Ebs	Epidermolysis Bullosa Intraepidermic
Epidermolytic Epidermolysis Bullosa

Lichen Planus

Lichen Ruber Planus	Lichen, Ruber Planus
Ruber Planus	Lp - [Lichen Planus]
Lichen Planus Of Wilson	Wilson Lichen Ruber

Epidermolysis Bullosa

Acantholysis Bullosa

Pemphigus Foliaceus

Pemphigus Foliaceous	Pf
Superficial Pemphigus

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional	Jeb
Epidermolysis Bullosa Atrophicans	Congenital Junctional Epidermolysis Bullosa
Epidermolysis Bullosa Junctional	Junctional Eb - [Epidermolysis Bullosa]
Jeb - [Junctional Epidermolysis Bullosa]	Lucidolytic Epidermolysis Bullosa

Pemphigus

Epidermolysis Bullosa, Junctional 4, Intermediate

Gabeb	JEB4
Epidermolysis Bullosa, Junctional 4, Non-Herlitz Type	Epidermolysis Bullosa, Generalized Atrophic Benign
Epidermolysis Bullosa, Junctional, Localisata Variant

Epidermolysis Bullosa Acquisita

Acquired Epidermolysis Bullosa	Eb Acquisita
Eba	Eba - [Epidermolysis Bullosa Acquisita]

Autonomic Neuropathy

Diabetic Autonomic Neuropathy

Pemphigus Vulgaris, Familial

Pemphigus Vulgaris	Familial Pemphigus Vulgaris
Pemphigus

Pemphigus Gestationis

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Kindler Syndrome

Poikiloderma Of Kindler	Bullous Acrokeratotic Poikiloderma Of Kindler And Weary
Congenital Bullous Poikiloderma	KNDLRS
Poikiloderma, Hereditary Acrokeratotic	Poikiloderma, Congenital, With Bullae, Weary Type
Kindler'S Syndrome	Poikiloderma Congenital With Bullae Weary Type
Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary	Hereditary Acrokeratotic Poikiloderma
Weary Syndrome	Poikiloderma Hereditary Acrokeratotic
Potassium Deficiency

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Paraneoplastic Pemphigus

Iga Pemphigus

Acute Laryngopharyngitis

Pharyngolaryngitis	Laryngopharyngitis
Hypopharyngitis

Basal Cell Carcinoma

Basal Cell Cancer	Basal Cell Neoplasm
Basal Cell Carcinoma Of Skin	Malignant Basal Cell Tumor
Basal Cell Tumor	Epithelioma Basal Cell
Malignant Basal Cell Neoplasm	Rodent Ulcer
Carcinoma Basal Cell	Neoplasms, Basal Cell
Basal Cell Carcinomas	Experimental Organism Basal Cell Carcinoma
Nodulo-Ulcerative Basal Cell Carcinoma	Basalioma
Basal Cell Epithelioma Of Skin	Bcc - [Basal Cell Carcinoma] Of Skin
Rodent Ulcer Of Skin	Rodent Ulcer Of Unspecified Site
Basal Cell Epithelioma Of Unspecified Site

Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy

Epidermolysis Bullosa Simplex With Muscular Dystrophy	Md-Ebs
Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy	EBS5B
Ebsmd	Mdebs
Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex	Ebs-Md
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy	Epidermolysa Bullosa Simplex With Muscular Dystrophy
Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy	Ebs With Muscular Dystrophy
Muscular Dystrophy With Epidermolysis Bullosa Simplex	Epidermolysa Bullosa Simplex, With Muscular Dystrophy

Lichen Disease

Junctional Epidermolysis Bullosa Non-Herlitz Type

Junctional Epidermolysis Bullosa, Non-Herlitz Type	Gabeb
Generalized Atrophic Benign Epidermolysis Bullosa	Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Jeb-Nh Gen	Jen-Nh
Junctional Epidermolysis Bullosa Generalisata Mitis	Junctional Epidermolysis Bullosa, Disentis Type
Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Autoimmune Disease Of Skin And Connective Tissue

Pseudomembranous Conjunctivitis

Keratosis

Actinic Keratosis

Hyperkeratosis

Neurotic Excoriation

Factitious Skin Disease	Dermatitis Artefacta
Dermatitis Factitia	Dermatitis Ficta

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis	Sneddon-Wilkinson Disease Or Syndrome
Pustulosis Subcornealis	Sneddon-Wilkinson Disease
Skin Diseases, Vesiculobullous	Vesiculobullous Skin Disease

Entropion

Epidermolysis Bullosa, Junctional 5b, With Pyloric Atresia

Junctional Epidermolysis Bullosa With Pyloric Atresia	Carmi Syndrome
Epidermolysis Bullosa, Junctional, With Pyloric Atresia	Jeb-Pa
JEB5B	Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Aplasia Cutis Congenita With Gastrointestinal Atresia	Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
Eb-Pa-Acc	Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome
Jeb With Pyloric Atresia	Epidermolysis Bullosa Letalis, With Pyloric Atresia
Pa-Jeb	Epidermolysis Bullosa With Pyloric Atresia

Lipoid Proteinosis Of Urbach And Wiethe

Lipoid Proteinosis	Urbach-Wiethe Disease
Hyalinosis Cutis Et Mucosae	Lipid Proteinosis
Lipoproteinosis	Urbach Wiethe Disease
Lipoglycoproteinosis	Lipoidosis Cutis Et Mucosae
Lipoidproteinosis	Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome	LIP
Proteinosis Lipoid

Axonal Neuropathy

Pompholyx

Dyshidrosis	Vesicular Eczema Of Hands And/Or Feet
Cheiropompholyx	Dyshydrotic Eczema
Eczema, Dyshidrotic	Vesicular Hand Eczema

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa	Deb
Dermolytic Epidermolysis Bullosa	Epidermolysis Bullosa, Dermolytic
Epidermolysis Bullosa, Dystrophic	Epidermolysis Bullosa Dystrophic
Dystrophic Eb - [Epidermolysis Bullosa]

Scabies

Sarcoptic Itch	Infestation By Sarcoptes Scabiei
Infestation By Sarcoptes Scabiei Var Hominis	Infestation By Sarcoptes Scabiei Var. Hominis

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis	Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
Rdeb, Hallopeau-Siemens Type	Severe Generalized Rdeb
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa	Rdeb Generalisata Gravis
Rdeb, Severe Generalized	Rdeb-Sev Gen
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized	Hallopeau-Siemens Disease

Mite Infestation

Mite Infestations	Acariasis
Infestation By Mites Nos

Transient Bullous Dermolysis Of The Newborn

TBDN	Transient Bullous Of The Newborn
Epidermolysis Bullosa Dystrophica, Neonatal Form	Dystrophic Epidermolysis Bullosa, Neonatal
Deb, Bullous Dermolysis Of The Newborn	Deb-Bdn
Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form	Self-Improving Dystrophic Epidermolysis Bullosa
Self-Improving Deb	Epidermolysis Bullosa Dystrophica Dominant Neonatal Type

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Integumentary System Disease

Autoimmune Disease Of Musculoskeletal System

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DST	MGD	MGI:104627
Felis catus	DST	VGNC	VGNC:102415
Canis familiaris	DST	VGNC	VGNC:57222
Macaca mulatta	DST	VGNC	VGNC:81061
Rattus norvegicus	DST	RGD	RGD:1306566
Others	DST	NCBI