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Gene · 8291

DYSF: dysferlin

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. DYSF: dysferlin. Genes, record 8291. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/8291

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Gene

Symbol
DYSF
HGNC
Name
dysferlin
HGNC
NCBI Gene ID
8291
NCBI Gene
HGNC ID
HGNC:3097
HGNC
Ensembl
ENSG00000135636
NCBI Gene
Aliases
FER1L1, LGMD2B, LGMDR2, MMD1
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
O75923Dysferlin2,08011Ensembl, GeneID, HGNC

Source UniProt

Patents49

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2025169942 A2025-11-14949O75923Espacenet
EP 4641201 A22025-10-291276O75923Espacenet
EP 4641202 A22025-10-2969O75923Espacenet
JP 2025529142 A2025-09-041343O75923Espacenet
US 12371689 B22025-07-291343O75923Espacenet
JP 2025517969 A2025-06-121276O75923Espacenet
US 12281145 B22025-04-2211O75923Espacenet
JP 2025032204 A2025-03-1127581O75923Espacenet
KR 1020250017231 A2025-02-0469O75923Espacenet
EP 4461818 A22024-11-1327581O75923Espacenet

1 to 10 of 49

See all 49 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants899

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleDYSF papersNewest fiscal year
R01NS047726Mechanisms of resealing and rebuilding in muscle repair162025
T32HL007381Cardiovascular Sciences Training Grant42025
ZIAAR041203Muscle Disease Unit42025
ZIANS003129Molecular and Clinical Manifestations of Matrix and Aggregate Myopathies42025
P30CA016058Cancer Center Support Grant32025
P30CA016672Cancer Center Support Grant32025
P30CA034196Cancer Center Support (CORE) Grant32025
P30CA091842Cancer Center Support Grant32025
P50HD105328District of Columbia Intellectual and Developmental Disabilities Research Center (DC-IDDRC)32025
P50NS053672Muscular Dystrophy Specialized Research Center32025

1 to 10 of 899Source NIH's project files

See all 899 nih grants

Papers2,035

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Genetic Sequencing in Saudi Patients with Systemic Lupus Erythematosus.Open Access Rheumatol202642770033PubTator, text miningPubMed
Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases.Front Pediatr202642729513PubTator, text miningPubMed
Integrated Transcriptomic and Machine-Learning Analyses Identify Shared Na+ Overload-Related Gene Signatures in Inflammatory Bowel Disease and Ankylosing Spondylitis.Genes (Basel)202642650131PubTator, text miningPubMed
Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.Respir Res202642634071PubTator, text miningPubMed
Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation.medRxiv202642620509PubTator, text miningPubMed
When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study.Arq Neuropsiquiatr202642595308PubTator, text miningPubMed
Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.Hum Mutat202642553504PubTator, text miningPubMed
Membrane proteomic profiling to identify candidate therapy targets for glioblastoma infiltration.Neurooncol Adv202642534387PubTator, text miningPubMed
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.J Neurol202642474733PubTator, text miningPubMed
Vav2 is a master regulator of repair against bacterial pore-forming toxins.Life Sci Alliance202642425763PubTator, text miningPubMed

1 to 10 of 2,035

See all 2,035 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/8291

GET https://conductscience.org/api/genes/v1/8291/patents?page=2