DYSF
Gene Information
- Official Symbol: DYSF
- Official Name: dysferlin
- Aliases and Previous Symbols: N/A
- Entrez ID: 8291
- UniProt: O75923
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| FerB |
| FerI |
| FerA |
| C2 |
GO Terms
| monocyte activation involved in immune response |
| membrane microdomain |
| negative regulation of high voltage-gated calcium channel activity |
| T-tubule organization |
| negative regulation of protein polyubiquitination |
| monocyte activation |
| plasma membrane repair |
| macrophage activation involved in immune response |
| negative regulation of voltage-gated calcium channel activity |
| regulation of high voltage-gated calcium channel activity |
| negative regulation of phagocytosis |
| glycerol metabolic process |
| regulation of protein polyubiquitination |
| alditol metabolic process |
| positive regulation of neutrophil chemotaxis |
| positive regulation of granulocyte chemotaxis |
| lipid storage |
| regulation of neutrophil chemotaxis |
| positive regulation of neutrophil migration |
| skeletal muscle tissue regeneration |
| regulation of voltage-gated calcium channel activity |
| negative regulation of calcium ion transmembrane transporter activity |
| cellular response to osmotic stress |
| regulation of neutrophil migration |
| regulation of calcium ion import |
| alpha-tubulin binding |
| negative regulation of calcium ion transmembrane transport |
| regulation of granulocyte chemotaxis |
| T-tubule |
| negative regulation of cation channel activity |
| cytokine secretion |
| macrophage activation |
| calcium-dependent phospholipid binding |
| endocytic vesicle |
| muscle fiber development |
| negative regulation of calcium ion transport |
| tissue regeneration |
| negative regulation of ion transmembrane transporter activity |
| vesicle fusion |
| negative regulation of protein ubiquitination |
| response to osmotic stress |
| organelle membrane fusion |
| negative regulation of transporter activity |
| negative regulation of cation transmembrane transport |
| negative regulation of protein modification by small protein conjugation or removal |
| positive regulation of leukocyte chemotaxis |
| regulation of calcium ion transmembrane transporter activity |
| plasma membrane organization |
| positive regulation of endothelial cell proliferation |
| regulation of phagocytosis |
| negative regulation of ion transmembrane transport |
| organelle fusion |
| sarcolemma |
| phospholipid binding |
| fat cell differentiation |
| polyol metabolic process |
| regulation of leukocyte chemotaxis |
| negative regulation of transmembrane transport |
| late endosome |
| positive regulation of leukocyte migration |
| regulation of endothelial cell proliferation |
| membrane fusion |
| negative regulation of protein catabolic process |
| striated muscle cell development |
| positive regulation of chemotaxis |
| cytoplasmic vesicle membrane |
| negative regulation of ion transport |
| regulation of calcium ion transmembrane transport |
| muscle cell development |
| cytokine production |
| regeneration |
| protein secretion |
| microtubule organizing center |
| establishment of protein localization to extracellular region |
| maintenance of location |
| protein localization to extracellular region |
| cellular carbohydrate metabolic process |
| regulation of cation channel activity |
| peptide secretion |
| lamellipodium |
| positive regulation of epithelial cell proliferation |
| regulation of leukocyte migration |
| regulation of protein ubiquitination |
| striated muscle cell differentiation |
| regulation of chemotaxis |
| regulation of protein modification by small protein conjugation or removal |
| microtubule binding |
| muscle cell differentiation |
| regulation of calcium ion transport |
| muscle contraction |
| early endosome |
| regulation of ion transmembrane transporter activity |
| regulation of transmembrane transporter activity |
| endosome |
| regulation of transporter activity |
| muscle system process |
| vesicle organization |
| negative regulation of catabolic process |
| cellular response to abiotic stimulus |
| cellular response to environmental stimulus |
| microtubule |
| angiogenesis |
| alcohol metabolic process |
| lipid localization |
| regulation of epithelial cell proliferation |
| regulation of cation transmembrane transport |
| regulation of protein catabolic process |
| regulation of metal ion transport |
| developmental growth |
| growth |
| positive regulation of cell adhesion |
| blood vessel morphogenesis |
| endomembrane system organization |
| organic hydroxy compound metabolic process |
| carbohydrate metabolic process |
| muscle structure development |
| regulation of ion transmembrane transport |
| wound healing |
| negative regulation of transport |
| blood vessel development |
| positive regulation of cell migration |
| vasculature development |
| cardiovascular system development |
| positive regulation of cell motility |
| myeloid cell activation involved in immune response |
| positive regulation of cellular component movement |
| regulation of vesicle-mediated transport |
| positive regulation of locomotion |
| regulation of transmembrane transport |
| response to wounding |
| myeloid leukocyte activation |
| negative regulation of protein modification process |
| positive regulation of response to external stimulus |
| leukocyte activation involved in immune response |
| cell activation involved in immune response |
| tube morphogenesis |
| regulation of cell adhesion |
| regulation of ion transport |
| calcium ion binding |
| tube development |
| regulation of cell migration |
| membrane organization |
| circulatory system development |
| anatomical structure formation involved in morphogenesis |
| regulation of cell motility |
| positive regulation of cell population proliferation |
| leukocyte activation |
| regulation of locomotion |
| Golgi apparatus |
| regulation of cellular component movement |
| regulation of catabolic process |
| secretion by cell |
| negative regulation of cellular protein metabolic process |
| export from cell |
| cell activation |
| immune effector process |
| regulation of response to external stimulus |
| negative regulation of protein metabolic process |
| secretion |
| negative regulation of molecular function |
| positive regulation of immune system process |
| response to abiotic stimulus |
| protein transport |
| peptide transport |
| amide transport |
| establishment of protein localization |
| regulation of cell population proliferation |
| cell development |
| regulation of immune system process |
| cellular response to stress |
| negative regulation of gene expression |
| small molecule metabolic process |
| tissue development |
| nitrogen compound transport |
| regulation of protein modification process |
| regulation of transport |
| immune response |
| vesicle-mediated transport |
| system process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 7075
- Expression level (log2 read counts): 0.19
Expression Distribution
DYSF Expression in NALM6 Cells: 0.19
