Dysferlin

DYSF
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4CAH, 4CAI, 4IHB, 4IQH
Identifiers
Aliases	DYSF, FER1L1, LGMD2B, MMD1, dysferlin, LGMDR2
External IDs	OMIM: 603009; MGI: 1349385; HomoloGene: 20748; GeneCards: DYSF; OMA:DYSF - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.2 Start 71,453,561 bp[1] End 71,686,763 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C3|6 36.14 cM Start 83,985,572 bp[2] End 84,188,042 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood muscle of thigh Skeletal muscle tissue of rectus abdominis triceps brachii muscle apex of heart vastus lateralis muscle external globus pallidus gastrocnemius muscle Skeletal muscle tissue of biceps brachii glutes Top expressed in muscle of thigh lumbar spinal ganglion soleus muscle skeletal muscle tissue interventricular septum yolk sac triceps brachii muscle temporal muscle quadriceps femoris muscle digastric muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding protein binding calcium-dependent phospholipid binding phospholipid binding lipid binding microtubule binding alpha-tubulin binding Cellular component integral component of membrane endosome late endosome membrane T-tubule plasma membrane endocytic vesicle early endosome sarcolemma extracellular exosome cytoplasmic vesicle membrane cytoplasmic vesicle lamellipodium microtubule organizing center nucleus Golgi apparatus microtubule membrane microdomain Biological process muscle contraction plasma membrane repair vesicle fusion angiogenesis positive regulation of endothelial cell proliferation monocyte activation involved in immune response macrophage activation involved in immune response glycerol metabolic process negative regulation of gene expression lipid storage T-tubule organization negative regulation of protein catabolic process skeletal muscle tissue regeneration fat cell differentiation positive regulation of cell adhesion negative regulation of phagocytosis cellular response to osmotic stress positive regulation of neutrophil chemotaxis regulation of calcium ion import negative regulation of high voltage-gated calcium channel activity negative regulation of protein polyubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8291 26903 Ensembl ENSG00000135636 ENSMUSG00000033788 UniProt O75923 Q9ESD7 RefSeq (mRNA) 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 NM_001077694 NM_021469 NM_001310152 RefSeq (protein) 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 NP_001071162 NP_001297081 NP_067444 NP_001390584 NP_001390585 NP_001390586 NP_001390587 Location (UCSC) Chr 2: 71.45 – 71.69 Mb Chr 6: 83.99 – 84.19 Mb PubMed search [3] [4]
Wikidata
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Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene.^[5] Dysferlin is linked with plasma membrane repair.,^[6] stabilization of calcium signaling^[7][8][9] and the development of the T-tubule system of the muscle^[10] A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy (DM). A reduction or absence of dysferlin, termed dysferlinopathy, usually becomes apparent in the third or fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.^[11] Pathogenic mutations leading to dysferlinopathy can occur throughout the DYSF gene.