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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Anguilla anguilla (European eel) ]

Gene ID: 118231876, updated on 20-Mar-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
EnsemblRapid:ENSAANG00010028343
Gene type
protein coding
RefSeq status
MODEL
Organism
Anguilla anguilla
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Anguilliformes; Anguillidae; Anguilla
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 7
Exon count:
59
Annotation release Status Assembly Chr Location
100 current fAngAng1.pri (GCF_013347855.1) 7 NC_049207.1 (22220260..22310004)

Chromosome 7 - NC_049207.1Genomic Context describing neighboring genes Neighboring gene zinc finger protein 638-like Neighboring gene zinc finger protein 638 Neighboring gene cytochrome P450 26B1 Neighboring gene exocyst complex component 6B

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_049207.1 Chromosome 7 Reference fAngAng1.pri Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

General gene information

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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

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Preferred Names
dysferlin

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Anguilla anguilla 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 fAngAng1.pri Primary Assembly

Genomic

  1. NC_049207.1 Reference fAngAng1.pri Primary Assembly

    Range
    22220260..22310004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_035426208.1 → XP_035282099.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1147 → 1275
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 553
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1614 → 1737
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:21 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1848 → 1979
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:943 → 999
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:786 → 856
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:698 → 754
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1990 → 2078
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1359 → 1429
    C2; C2 domain

  2. XM_035426212.1 → XP_035282103.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1136 → 1264
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 542
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1603 → 1726
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:21 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1837 → 1968
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932 → 988
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:775 → 845
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:687 → 743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1979 → 2067
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1348 → 1418
    C2; C2 domain

  3. XM_035426214.1 → XP_035282105.1  dysferlin isoform X6

    UniProtKB/TrEMBL
    A0A9D3S049
    Related
    ENSAANP00010075108.1, ENSAANT00010078021.1
    Conserved Domains (12) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1136 → 1264
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 542
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1565 → 1688
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:21 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1799 → 1930
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932 → 988
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:775 → 845
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:687 → 743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1941 → 2029
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1334 → 1404
    C2; C2 domain

  4. XM_035426210.1 → XP_035282101.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1147 → 1275
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 553
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1610 → 1733
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:21 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1844 → 1975
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:943 → 999
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:786 → 856
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:698 → 754
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1986 → 2074
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1359 → 1429
    C2; C2 domain

  5. XM_035426213.1 → XP_035282104.1  dysferlin isoform X5

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1147 → 1275
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 553
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1590 → 1713
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:21 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1824 → 1955
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:943 → 999
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:786 → 856
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:698 → 754
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1966 → 2054
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1359 → 1429
    C2; C2 domain

  6. XM_035426209.1 → XP_035282100.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1145 → 1273
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 551
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1612 → 1735
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:17 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1846 → 1977
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:941 → 997
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:784 → 854
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:696 → 752
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1988 → 2076
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1357 → 1427
    C2; C2 domain

  7. XM_035426215.1 → XP_035282106.1  dysferlin isoform X7

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1145 → 1273
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 551
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1608 → 1731
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:17 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1842 → 1973
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:941 → 997
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:784 → 854
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:696 → 752
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1984 → 2072
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1357 → 1427
    C2; C2 domain

  8. XM_035426216.1 → XP_035282107.1  dysferlin isoform X8

    UniProtKB/TrEMBL
    A0A9D3S049
    Related
    ENSAANP00010075124.1, ENSAANT00010078037.1
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1134 → 1262
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 540
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1577 → 1700
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:17 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1811 → 1942
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:930 → 986
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773 → 843
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:685 → 741
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1953 → 2041
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1346 → 1416
    C2; C2 domain

  9. XM_035426217.1 → XP_035282108.1  dysferlin isoform X9

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1134 → 1262
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 540
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1583 → 1706
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:17 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1817 → 1948
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:930 → 986
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773 → 843
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:685 → 741
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1959 → 2047
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1332 → 1402
    C2; C2 domain

  10. XM_035426218.1 → XP_035282109.1  dysferlin isoform X10

    UniProtKB/TrEMBL
    A0A9D3S049
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1134 → 1262
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 540
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1563 → 1686
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:17 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1797 → 1928
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:930 → 986
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773 → 843
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:685 → 741
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1939 → 2027
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1332 → 1402
    C2; C2 domain
Nucleotide Protein
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