Details for: DYSF

Gene ID: 8291

Symbol: DYSF

Ensembl ID: ENSG00000135636

Description: dysferlin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 122.4724
    Cell Significance Index: -19.0500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 42.2639
    Cell Significance Index: -17.1700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.0101
    Cell Significance Index: -17.2000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.4345
    Cell Significance Index: -19.0300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 5.6314
    Cell Significance Index: 81.7600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.7056
    Cell Significance Index: 95.2500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 3.4530
    Cell Significance Index: 84.2500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 3.4201
    Cell Significance Index: 49.1900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 3.0164
    Cell Significance Index: 48.6700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.3102
    Cell Significance Index: 177.2900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.8279
    Cell Significance Index: 28.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2549
    Cell Significance Index: 251.7300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.9831
    Cell Significance Index: 5.9400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9134
    Cell Significance Index: 24.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.7979
    Cell Significance Index: 19.9500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.7923
    Cell Significance Index: 41.2700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7505
    Cell Significance Index: 28.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6814
    Cell Significance Index: 30.1400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.6560
    Cell Significance Index: 12.1300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.5772
    Cell Significance Index: 7.7000
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.5387
    Cell Significance Index: 5.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3494
    Cell Significance Index: 125.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3274
    Cell Significance Index: 226.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2418
    Cell Significance Index: 46.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1281
    Cell Significance Index: 25.4300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1201
    Cell Significance Index: 108.4700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0847
    Cell Significance Index: 38.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0669
    Cell Significance Index: 1.4500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0627
    Cell Significance Index: 1.7900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0318
    Cell Significance Index: 43.2400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0298
    Cell Significance Index: 0.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0289
    Cell Significance Index: 2.8600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.0097
    Cell Significance Index: 0.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0065
    Cell Significance Index: -12.1500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0098
    Cell Significance Index: -17.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0111
    Cell Significance Index: -17.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0130
    Cell Significance Index: -0.8000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0131
    Cell Significance Index: -0.4600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0267
    Cell Significance Index: -19.7800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0269
    Cell Significance Index: -17.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0269
    Cell Significance Index: -19.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0275
    Cell Significance Index: -20.8100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0287
    Cell Significance Index: -12.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0328
    Cell Significance Index: -17.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0355
    Cell Significance Index: -20.0300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0519
    Cell Significance Index: -14.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0674
    Cell Significance Index: -12.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0677
    Cell Significance Index: -1.9500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0770
    Cell Significance Index: -8.3800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0878
    Cell Significance Index: -11.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0904
    Cell Significance Index: -3.9300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0995
    Cell Significance Index: -20.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1057
    Cell Significance Index: -15.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1102
    Cell Significance Index: -18.8100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1105
    Cell Significance Index: -5.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1190
    Cell Significance Index: -16.3400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1240
    Cell Significance Index: -12.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1277
    Cell Significance Index: -15.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1279
    Cell Significance Index: -4.0800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1385
    Cell Significance Index: -2.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1515
    Cell Significance Index: -2.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1522
    Cell Significance Index: -15.5500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1605
    Cell Significance Index: -20.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1650
    Cell Significance Index: -11.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1771
    Cell Significance Index: -20.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1834
    Cell Significance Index: -12.3300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1844
    Cell Significance Index: -2.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1861
    Cell Significance Index: -21.9500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2036
    Cell Significance Index: -3.4300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2101
    Cell Significance Index: -14.8600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2135
    Cell Significance Index: -6.9900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2209
    Cell Significance Index: -3.2600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.2242
    Cell Significance Index: -2.8800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2242
    Cell Significance Index: -2.8300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.2304
    Cell Significance Index: -13.8300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2405
    Cell Significance Index: -15.5200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2497
    Cell Significance Index: -19.7800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2786
    Cell Significance Index: -6.9500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2811
    Cell Significance Index: -20.9500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2912
    Cell Significance Index: -10.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2926
    Cell Significance Index: -9.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2938
    Cell Significance Index: -18.0600
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.2964
    Cell Significance Index: -2.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3121
    Cell Significance Index: -17.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3280
    Cell Significance Index: -17.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3287
    Cell Significance Index: -17.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3411
    Cell Significance Index: -21.5000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.3516
    Cell Significance Index: -3.7700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3570
    Cell Significance Index: -7.4500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3581
    Cell Significance Index: -7.6000
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.3607
    Cell Significance Index: -3.9800
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.3938
    Cell Significance Index: -3.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3981
    Cell Significance Index: -18.5600
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.4031
    Cell Significance Index: -6.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4101
    Cell Significance Index: -20.7300
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: -0.4134
    Cell Significance Index: -3.9300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4168
    Cell Significance Index: -19.5900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4213
    Cell Significance Index: -4.5900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Dysferlin is a 100-kDa protein that belongs to the annexin family of proteins. It is characterized by its ability to bind to phospholipids, calcium ions, and other proteins, which are essential for its functions. Dysferlin's primary function is to facilitate the repair of muscle damage by bridging the gap between the plasma membrane and the sarclemma (the muscle cell membrane) after muscle injury. This process is critical for maintaining muscle integrity and function. **Pathways and Functions:** Dysferlin's functions can be broadly categorized into two main pathways: 1. **Muscle Integrity and Repair:** Dysferlin plays a crucial role in the repair of muscle damage by facilitating the reconnection of the plasma membrane to the sarclemma. This process involves the interaction of dysferlin with other proteins, such as dystrophin, and the regulation of calcium ion flux. 2. **Immune Regulation:** Dysferlin has been shown to regulate immune responses, particularly in the context of macrophage and monocyte activation. Dysferlin interacts with immune cells, modulating their activation and function, and influencing the regulation of phagocytosis and cytokine production. **Functions:** * Facilitates muscle repair and integrity * Regulates immune responses, particularly in macrophage and monocyte activation * Interacts with other proteins to regulate calcium ion flux and muscle contraction * Inhibits phagocytosis and cytokine production * Regulates neurotransmitter secretion and synaptic vesicle membrane function **Clinical Significance:** Dysferlin mutations are associated with various muscular dystrophies, including: * Duchenne muscular dystrophy (DMD) * Becker muscular dystrophy (BMD) * Limb-girdle muscular dystrophy (LGMD) * Congenital muscular dystrophy (CMD) These mutations lead to impaired muscle function, muscle weakness, and progressive muscle degeneration. Understanding the role of dysferlin in muscle integrity and immune regulation has significant implications for the development of novel therapeutic strategies for the treatment of muscular dystrophies. In conclusion, dysferlin is a multifunctional protein that plays a critical role in maintaining muscle integrity and regulating immune responses. Its dysregulation has significant clinical implications, highlighting the importance of continued research into the mechanisms underlying muscular dystrophies and the development of novel therapeutic strategies to address these devastating diseases.

Genular Protein ID: 4138878914

Symbol: DYSF_HUMAN

Name: Dysferlin

UniProtKB Accession Codes:

O75923 A0FK00 B1PZ70 B1PZ71 B1PZ72 B1PZ73 B1PZ74 B1PZ75 B1PZ76 B1PZ77 B1PZ78 B1PZ79 B1PZ80 B1PZ81 B3KQB9 O75696 Q09EX5 Q0H395 Q53QY3 Q53TD2 Q8TEL8 Q9UEN7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 11 CDD 6 CORUM 1 CTD 1 ChEBI 16 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 23 Ensembl 11 EvolutionaryTrace 1 GO 18 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 14 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 15 Pumba 1 RNAct 1 Reactome 1 RefSeq 14 SIGNOR 1 SMART 6 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9731526

Title: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

PubMed ID: 9731526

DOI: 10.1038/1682

PubMed ID: 16896923

Title: Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.

PubMed ID: 16896923

DOI: 10.1007/s00439-006-0230-1

PubMed ID: 19221801

Title: Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

PubMed ID: 19221801

DOI: 10.1007/s00439-009-0632-y

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 9731527

Title: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.

PubMed ID: 9731527

DOI: 10.1038/1689

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10196375

Title: Dysferlin is a plasma membrane protein and is expressed early in human development.

PubMed ID: 10196375

DOI: 10.1093/hmg/8.5.855

PubMed ID: 10496277

Title: Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy.

PubMed ID: 10496277

DOI: 10.1212/wnl.53.5.1119

PubMed ID: 10196377

Title: Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

PubMed ID: 10196377

DOI: 10.1093/hmg/8.5.871

PubMed ID: 11198284

Title: Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.

PubMed ID: 11198284

DOI: 10.1002/1531-8249(200101)49:1<130::aid-ana22>3.3.co;2-s

PubMed ID: 11532985

Title: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

PubMed ID: 11532985

DOI: 10.1093/hmg/10.17.1761

PubMed ID: 11959863

Title: Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains.

PubMed ID: 11959863

DOI: 10.1074/jbc.m201858200

PubMed ID: 15318348

Title: Developmental and tissue-specific regulation of a novel dysferlin isoform.

PubMed ID: 15318348

DOI: 10.1002/mus.20106

PubMed ID: 15835269

Title: Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.

PubMed ID: 15835269

DOI: 10.1093/jnen/64.4.334

PubMed ID: 17554076

Title: Dysferlin is expressed in human placenta but does not associate with caveolin.

PubMed ID: 17554076

DOI: 10.1095/biolreprod.107.062190

PubMed ID: 17185750

Title: AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.

PubMed ID: 17185750

DOI: 10.1096/fj.06-6628com

PubMed ID: 17363620

Title: From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis.

PubMed ID: 17363620

DOI: 10.1096/fj.06-7659com

PubMed ID: 19084402

Title: A new phenotype of dysferlinopathy with congenital onset.

PubMed ID: 19084402

DOI: 10.1016/j.nmd.2008.09.015

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24461013

Title: Quantitation of the calcium and membrane binding properties of the c2 domains of dysferlin.

PubMed ID: 24461013

DOI: 10.1016/j.bpj.2013.11.4492

PubMed ID: 24687993

Title: Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.

PubMed ID: 24687993

DOI: 10.1096/fj.13-246470

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24438169

Title: Crystal structures of the human Dysferlin inner DysF domain.

PubMed ID: 24438169

DOI: 10.1186/1472-6807-14-3

PubMed ID: 24239457

Title: Alternate splicing of dysferlin C2A confers Ca(2+)-dependent and Ca(2+)-independent binding for membrane repair.

PubMed ID: 24239457

DOI: 10.1016/j.str.2013.10.001

PubMed ID: 11134403

Title: Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

PubMed ID: 11134403

DOI: 10.1212/wnl.55.12.1931

PubMed ID: 11468312

Title: Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

PubMed ID: 11468312

DOI: 10.1212/wnl.57.2.271

PubMed ID: 12796534

Title: Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

PubMed ID: 12796534

DOI: 10.1212/01.wnl.0000068333.43005.12

PubMed ID: 14678801

Title: Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

PubMed ID: 14678801

DOI: 10.1016/s0960-8966(03)00133-0

PubMed ID: 15477515

Title: Phenotypic features and genetic findings in 2 Chinese families with Miyoshi distal myopathy.

PubMed ID: 15477515

DOI: 10.1001/archneur.61.10.1594

PubMed ID: 15469449

Title: Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

PubMed ID: 15469449

DOI: 10.1111/j.1468-1331.2004.00755.x

PubMed ID: 15116377

Title: Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.

PubMed ID: 15116377

DOI: 10.1002/mus.20025

PubMed ID: 15515206

Title: Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.

PubMed ID: 15515206

DOI: 10.3349/ymj.2004.45.5.927

PubMed ID: 16010686

Title: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

PubMed ID: 16010686

DOI: 10.1002/humu.9355

PubMed ID: 16100712

Title: Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

PubMed ID: 16100712

DOI: 10.1002/humu.9364

PubMed ID: 16705711

Title: Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

PubMed ID: 16705711

DOI: 10.1002/humu.9424

PubMed ID: 16996541

Title: Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

PubMed ID: 16996541

DOI: 10.1016/j.jns.2006.07.004

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17287450

Title: Symptomatic dysferlin gene mutation carriers: characterization of two cases.

PubMed ID: 17287450

DOI: 10.1212/01.wnl.0000256768.79353.60

PubMed ID: 18306167

Title: Dysferlin-deficient muscular dystrophy features amyloidosis.

PubMed ID: 18306167

DOI: 10.1002/ana.21309

PubMed ID: 18853459

Title: Analysis of the DYSF mutational spectrum in a large cohort of patients.

PubMed ID: 18853459

DOI: 10.1002/humu.20910

Sequence Information:

  • Length: 2080
  • Mass: 237295
  • Checksum: 376E25A5AB9BE398
  • Sequence:
    • MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGF EWDLKGIPLD 
QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSAS FNAPLLDTKK QPTGASLVLQ 
VSYTPLPGAV PLFPPPTPLE PSPTLPDLDV VADTGGEEDT EDQGLTGDEA EPFLDQSGGP 
GAPTTPRKLP SRPPPHYPGI KRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV 
VKVTAAGQTK RTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGE 
FRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEA PLERKDPSED 
KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMD NVKQIFGFES NKKNLVDPFV 
EVSFAGKMLC SKILEKTANP QWNQNITLPA MFPSMCEKMR IRIIDWDRLT HNDIVATTYL 
SMSKISAPGG EIEEEPAGAV KPSKASDLDD YLGFLPTFGP CYINLYGSPR EFTGFPDPYT 
ELNTGKGEGV AYRGRLLLSL ETKLVEHSEQ KVEDLPADDI LRVEKYLRRR KYSLFAAFYS 
ATMLQDVDDA IQFEVSIGNY GNKFDMTCLP LASTTQYSRA VFDGCHYYYL PWGNVKPVVV 
LSSYWEDISH RIETQNQLLG IADRLEAGLE QVHLALKAQC STEDVDSLVA QLTDELIAGC 
SQPLGDIHET PSATHLDQYL YQLRTHHLSQ ITEAALALKL GHSELPAALE QAEDWLLRLR 
ALAEEPQNSL PDIVIWMLQG DKRVAYQRVP AHQVLFSRRG ANYCGKNCGK LQTIFLKYPM 
EKVPGARMPV QIRVKLWFGL SVDEKEFNQF AEGKLSVFAE TYENETKLAL VGNWGTTGLT 
YPKFSDVTGK IKLPKDSFRP SAGWTWAGDW FVCPEKTLLH DMDAGHLSFV EEVFENQTRL 
PGGQWIYMSD NYTDVNGEKV LPKDDIECPL GWKWEDEEWS TDLNRAVDEQ GWEYSITIPP 
ERKPKHWVPA EKMYYTHRRR RWVRLRRRDL SQMEALKRHR QAEAEGEGWE YASLFGWKFH 
LEYRKTDAFR RRRWRRRMEP LEKTGPAAVF ALEGALGGVM DDKSEDSMSV STLSFGVNRP 
TISCIFDYGN RYHLRCYMYQ ARDLAAMDKD SFSDPYAIVS FLHQSQKTVV VKNTLNPTWD 
QTLIFYEIEI FGEPATVAEQ PPSIVVELYD HDTYGADEFM GRCICQPSLE RMPRLAWFPL 
TRGSQPSGEL LASFELIQRE KPAIHHIPGF EVQETSRILD ESEDTDLPYP PPQREANIYM 
VPQNIKPALQ RTAIEILAWG LRNMKSYQLA NISSPSLVVE CGGQTVQSCV IRNLRKNPNF 
DICTLFMEVM LPREELYCPP ITVKVIDNRQ FGRRPVVGQC TIRSLESFLC DPYSAESPSP 
QGGPDDVSLL SPGEDVLIDI DDKEPLIPIQ EEEFIDWWSK FFASIGEREK CGSYLEKDFD 
TLKVYDTQLE NVEAFEGLSD FCNTFKLYRG KTQEETEDPS VIGEFKGLFK IYPLPEDPAI 
PMPPRQFHQL AAQGPQECLV RIYIVRAFGL QPKDPNGKCD PYIKISIGKK SVSDQDNYIP 
CTLEPVFGKM FELTCTLPLE KDLKITLYDY DLLSKDEKIG ETVVDLENRL LSKFGARCGL 
PQTYCVSGPN QWRDQLRPSQ LLHLFCQQHR VKAPVYRTDR VMFQDKEYSI EEIEAGRIPN 
PHLGPVEERL ALHVLQQQGL VPEHVESRPL YSPLQPDIEQ GKLQMWVDLF PKALGRPGPP 
FNITPRRARR FFLRCIIWNT RDVILDDLSL TGEKMSDIYV KGWMIGFEEH KQKTDVHYRS 
LGGEGNFNWR FIFPFDYLPA EQVCTIAKKD AFWRLDKTES KIPARVVFQI WDNDKFSFDD 
FLGSLQLDLN RMPKPAKTAK KCSLDQLDDA FHPEWFVSLF EQKTVKGWWP CVAEEGEKKI 
LAGKLEMTLE IVAESEHEER PAGQGRDEPN MNPKLEDPRR PDTSFLWFTS PYKTMKFILW 
RRFRWAIILF IILFILLLFL AIFIYAFPNY AAMKLVKPFS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.