DYSF (Gene)

Organism:

Homo sapiens

Synonyms:DYSF, ENTREZ:8291, FER1L1, HGNC:3097, LGMD2B, LGMDR2, MIM:603009, MMD1, NM_001130455, NM_001130976, NM_001130977, NM_001130978, NM_001130979, NM_001130980, NM_001130981, NM_001130982, NM_001130983, NM_001130984, NM_001130985, NM_001130986, NM_001130987, NM_003494, NP_001123927, NP_001124448, NP_001124449, NP_001124450, NP_001124451, NP_001124452, NP_001124453, NP_001124454, NP_001124455, NP_001124456, NP_001124457, NP_001124458, NP_001124459, NP_003485, XM_005264584, XM_005264585, XP_005264641, XP_005264642, XR_001738969, dysferlin

Omim:OMIM:603009

Id:ENSG00000135636

Hgnc:HGNC:3097

Entrez:8291

Ensembl:ENSG00000135636

Description:dysferlin

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View DYSF's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with DYSF.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using DYSF.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for DYSF.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with DYSF.

Results found

Linked to

	Label	Description
	GSE233679 14 V 13 NICOTINAMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE240439 decitabine 1 v 2 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE225869 1 V 0 TEMOZOLOMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE120612 etoposide leukocyte 6 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE233679 12 V 0 NICOTINAMIDE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE212231 GSE218491 SHP2 inhibition 3 v 5 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE77108 8 V 7 SAHA HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE248769 1 V 0 SORAFENIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE159678 4 V 2 CHLOROQUINE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE192860 0 V 1 TRIFLUOPERAZINE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS

GSE233679 14 V 13 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE240439 decitabine 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE225869 1 V 0 TEMOZOLOMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE120612 etoposide leukocyte 6 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE233679 12 V 0 NICOTINAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE212231 GSE218491 SHP2 inhibition 3 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE77108 8 V 7 SAHA HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE248769 1 V 0 SORAFENIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE159678 4 V 2 CHLOROQUINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE192860 0 V 1 TRIFLUOPERAZINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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