HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DST
dystonin
Chromosome 6 · 6p12.1
NCBI Gene: 667Ensembl: ENSG00000151914.22HGNC: HGNC:1090UniProt: A0A7P0T890
212PubMed Papers
22Diseases
0Drugs
196Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusintegrin bindingresponse to woundingmaintenance of cell polarityhereditary sensory and autonomic neuropathy type 6epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyepidermolysis bullosa simplexgenetic disorder
✦AI Summary

I cannot provide an adequate gene function summary for DST (dystonin) based on the provided PubMed abstracts. The three abstracts supplied discuss diabetes management and biomarkers in clinical trials, with no content related to DST, cytoskeletal organization, axonal transport, or the associated diseases (epidermolysis bullosa simplex 3 and hereditary sensory and autonomic neuropathy 6). To generate an evidence-based summary grounded in the provided literature as required, I would need PubMed abstracts that actually address DST's molecular mechanisms, its role in microtubule or hemidesmosome organization, and its involvement in sensory neuron function or skin barrier maintenance. The current set of abstracts is insufficient to support any factual claims about this gene's biology or clinical significance.

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ22
hereditary sensory and autonomic neuropathy type 6Open Targets
0.75Strong
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyOpen Targets
0.75Strong
epidermolysis bullosa simplexOpen Targets
0.66Moderate
genetic disorderOpen Targets
0.54Moderate
KRT14-related epidermolysis bullosa simplexOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.38Weak
cardiomyopathyOpen Targets
0.34Weak
autism spectrum disorderOpen Targets
0.34Weak
Global developmental delayOpen Targets
0.34Weak
HypotoniaOpen Targets
0.34Weak
lethal congenital contracture syndromeOpen Targets
0.34Weak
vascular diseaseOpen Targets
0.34Weak
edemaOpen Targets
0.31Weak
COVID-19Open Targets
0.31Weak
respiratory failureOpen Targets
0.31Weak
fungal infectious diseaseOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.30Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.29Weak
HypocalcemiaOpen Targets
0.29Weak
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiencyUniProt
Neuropathy, hereditary sensory and autonomic, 6UniProt
Pathogenic Variants196
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided|not specified|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|Hereditary sensory and autonomic neuropathy type 6
★★☆☆2026→ Residue 1124
NM_001723.7(DST):c.3383del (p.Ala1128fs)Pathogenic
Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided
★★☆☆2025→ Residue 1128
NM_001374736.1(DST):c.22959+1G>ALikely pathogenic
Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided
★★☆☆2025
NM_001374736.1(DST):c.2989C>T (p.Gln997Ter)Pathogenic
Inborn genetic diseases|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★★☆☆2024→ Residue 997
NM_001723.7(DST):c.64C>T (p.Arg22Ter)Likely pathogenic
Hereditary sensory and autonomic neuropathy type 6|not provided
★★☆☆2024→ Residue 22
NM_001723.7(DST):c.4993C>T (p.Gln1665Ter)Pathogenic
not provided|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★★☆☆2024→ Residue 1665
NM_001374736.1(DST):c.21756del (p.Ala7253fs)Pathogenic
not provided|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|LETHAL CONGENITAL CONTRACTURE SYNDROME 12
★★☆☆2024→ Residue 7253
NM_001723.7(DST):c.3586dup (p.Tyr1196fs)Pathogenic
DST-related disorder|Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
★★☆☆2024→ Residue 1196
NM_001723.7(DST):c.5484T>A (p.Cys1828Ter)Pathogenic
Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|not provided
★★☆☆2023→ Residue 1828
NM_001723.7(DST):c.5177dup (p.Thr1727fs)Pathogenic
Hereditary sensory and autonomic neuropathy type 6|Hereditary sensory and autonomic neuropathy type 6;Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
★★☆☆2022→ Residue 1727
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6|Inborn genetic diseases
★★☆☆2021→ Residue 7329
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter)Pathogenic
not provided|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★★☆☆2021→ Residue 5072
NM_001374736.1(DST):c.5672T>A (p.Leu1891Ter)Likely pathogenic
DST-related disorder
★☆☆☆2026→ Residue 1891
NM_001374736.1(DST):c.9021del (p.Lys3007fs)Likely pathogenic
DST-related disorder
★☆☆☆2026→ Residue 3007
NM_001374736.1(DST):c.3528_3529del (p.Trp1177fs)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★☆☆☆2025→ Residue 1177
NM_001723.7(DST):c.5173_5180del (p.Leu1725fs)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★☆☆☆2025→ Residue 1725
NM_001723.7(DST):c.5443C>T (p.Gln1815Ter)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★☆☆☆2025→ Residue 1815
NM_001374736.1(DST):c.19634T>A (p.Leu6545Ter)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★☆☆☆2025→ Residue 6545
NM_001374736.1(DST):c.3622-2A>GLikely pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★☆☆☆2025
NM_001723.7(DST):c.5874C>G (p.Tyr1958Ter)Pathogenic
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency;Hereditary sensory and autonomic neuropathy type 6
★☆☆☆2025→ Residue 1958
View on ClinVar ↗
Related Genes
ITGA6Protein interaction100%COL17A1Protein interaction100%MAPRE1Protein interaction99%CD151Protein interaction96%LAMA3Protein interaction95%DSPProtein interaction94%
Tissue Expression6 tissues
Heart
100%
Ovary
61%
Lung
58%
Brain
57%
Liver
53%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
DSTITGA6COL17A1MAPRE1CD151LAMA3DSP
PROTEIN STRUCTURE
Preparing viewer…
PDB3GJO · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.30Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.26 [0.23–0.30]
RankingsWhere DST stands among ~20K protein-coding genes
  • #1,958of 20,598
    Most Researched212 · top 10%
  • #353of 5,498
    Most Pathogenic Variants196 · top 10%
  • #1,112of 17,882
    Most Constrained (LOEUF)0.30 · top 10%
Genes detectedDST
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Behavior Modification in Prediabetes and Diabetes: Potential Use of Real-Time Continuous Glucose Monitoring.
PMID: 30066574
J Diabetes Sci Technol · 2019
1.00
2
Bruising-An Ignored Issue?
PMID: 34911371
J Diabetes Sci Technol · 2022
0.90
3
The Coronavirus 2019 Pandemic and Diabetes: An International Perspective.
PMID: 32517506
J Diabetes Sci Technol · 2020
0.84
4
Interferences With CGM Systems: Practical Relevance?
PMID: 34911382
J Diabetes Sci Technol · 2022
0.80
5
Human-in-the-Loop Insulin Dosing.
PMID: 31801361
J Diabetes Sci Technol · 2021
0.70