U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Gambusia affinis (western mosquitofish) ]

Gene ID: 122820274, updated on 28-May-2024

Summary

Go to the top of the page Help
Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
EnsemblRapid:ENSGAFG00005003324
Gene type
protein coding
RefSeq status
MODEL
Organism
Gambusia affinis
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata; Ovalentaria; Atherinomorphae; Cyprinodontiformes; Poeciliidae; Poeciliinae; Gambusia
Orthologs
human zebrafish all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See dysf in Genome Data Viewer
Location:
chromosome: LG18
Exon count:
59
Annotation release Status Assembly LG Location
100 current SWU_Gaff_1.0 (GCF_019740435.1) LG18 NC_057885.1 (20817507..20905765, complement)

Linkage Group LG18 - NC_057885.1Genomic Context describing neighboring genes Neighboring gene cytochrome P450 26B1 Neighboring gene uncharacterized LOC122820273 Neighboring gene zinc finger protein 638-like Neighboring gene uncharacterized LOC122820277

Genomic regions, transcripts, and products

Go to the top of the page Help
Genomic Sequence:
NC_057885.1 Chromosome LG18 Reference SWU_Gaff_1.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

General gene information

Go to the top of the page Help

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables calcium-dependent phospholipid binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in T-tubule organization IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in macrophage activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in monocyte activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in negative regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in plasma membrane repair IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in vesicle fusion IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
dysferlin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs of Annotated Genomes: Gambusia affinis Annotation Release 100 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference SWU_Gaff_1.0 Primary Assembly

Genomic

  1. NC_057885.1 Reference SWU_Gaff_1.0 Primary Assembly

    Range
    20817507..20905765 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_044097541.1 → XP_043953476.1  dysferlin isoform X3

    Conserved Domains (8) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1277
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:401 → 560
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1620 → 1743
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1854 → 1985
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:879 → 937
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1365 → 1435
    C2; C2 domain

  2. XM_044097542.1 → XP_043953477.1  dysferlin isoform X4

    Related
    ENSGAFP00005021213.1, ENSGAFT00005021770.1
    Conserved Domains (8) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1288
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:401 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1617 → 1740
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1851 → 1982
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1362 → 1432
    C2; C2 domain

  3. XM_044097539.1 → XP_043953474.1  dysferlin isoform X1

    Conserved Domains (8) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1288
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:401 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1631 → 1754
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1865 → 1996
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1376 → 1446
    C2; C2 domain

  4. XM_044097547.1 → XP_043953482.1  dysferlin isoform X9

    Conserved Domains (8) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1277
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:401 → 560
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1600 → 1723
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1834 → 1965
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:879 → 937
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1365 → 1435
    C2; C2 domain

  5. XM_044097543.1 → XP_043953478.1  dysferlin isoform X5

    Related
    ENSGAFP00005021229.1, ENSGAFT00005021786.1
    Conserved Domains (8) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1288
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:401 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1611 → 1734
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1845 → 1976
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1376 → 1446
    C2; C2 domain

  6. XM_044097546.1 → XP_043953481.1  dysferlin isoform X8

    Related
    ENSGAFP00005021211.1, ENSGAFT00005021768.1
    Conserved Domains (8) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1272
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:396 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1615 → 1738
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 128
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1849 → 1980
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:874 → 932
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1360 → 1430
    C2; C2 domain

  7. XM_044097540.1 → XP_043953475.1  dysferlin isoform X2

    Conserved Domains (8) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1159 → 1283
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:396 → 566
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1626 → 1749
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 128
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1860 → 1991
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:885 → 943
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1371 → 1441
    C2; C2 domain

  8. XM_044097545.1 → XP_043953480.1  dysferlin isoform X7

    Related
    ENSGAFP00005021212.1, ENSGAFT00005021769.1
    Conserved Domains (8) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1272
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:396 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1595 → 1718
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 128
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1829 → 1960
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:874 → 932
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1360 → 1430
    C2; C2 domain

  9. XM_044097544.1 → XP_043953479.1  dysferlin isoform X6

    Conserved Domains (6) summary
    cd04017
    Location:751 → 875
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:1 → 158
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1218 → 1341
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1452 → 1583
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:477 → 535
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:963 → 1033
    C2; C2 domain
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.