DST Chromosome 6
Dystonin
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What This Gene Does
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]
Gene Info
Gene Group
"EF-hand domain containing|Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
6p12.1
Ensembl
ENSG00000151914
Associated Conditions (14)
Autism spectrum disorder
Epidermolysis bullosa simplex 3
localized or generalized intermediate
with BP230 deficiency
Hereditary sensory and autonomic neuropathy type 6
Inborn genetic diseases
DST-related disorder
Multiple sclerosis
Familial cancer of breast
Distal spinal muscular atrophy
Congenital contracture
Cardiomyopathy
Hypotonia
Global developmental delay
Key Variants
RS1824238311
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1020828510
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Health Risk
RS112473525
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS112635185
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116774070
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Health Risk
RS1213338072
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS138185589
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS138553142
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS141523606
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS142650835
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS143101723
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate
Health Risk
RS143924906
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
Health Risk
All Variants (210)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142001477 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS1426568243 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS1426972011 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6 |
| RS1440037452 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS1480207376 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS1487307181 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS1563162043 | Health Risk | Pathogenic | Congenital contracture, Cardiomyopathy, Hypotonia |
| RS1584100685 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS1584328172 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS201045495 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2094929531 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2095802050 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2095976276 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2095978390 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2096469777 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2096799052 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2096867388 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2097534211 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2097544341 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098545189 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2098654029 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098678320 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098681738 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098722781 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098784614 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2127689099 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6 |
| RS2127830414 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6 |
| RS2152382691 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6 |
| RS2152403168 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152409202 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152486042 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152554942 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152556195 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2152610983 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152728832 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2152729916 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2152731563 | Health Risk | Pathogenic | — |
| RS2152733577 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152739843 | Health Risk | Pathogenic | — |
| RS2152746765 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2152751675 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152759445 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2152759509 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2152770295 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2533348363 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2533455719 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency |
| RS2533685277 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2533685520 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2533706650 | Health Risk | Pathogenic | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2533826804 | Health Risk | Pathogenic | — |