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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Etheostoma spectabile (orangethroat darter) ]

Gene ID: 116669486, updated on 18-Mar-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Locus tag
FQN60_006392
Gene type
protein coding
RefSeq status
MODEL
Organism
Etheostoma spectabile
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata; Eupercaria; Perciformes; Percoidei; Percidae; Etheostomatinae; Etheostoma
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 19
Exon count:
60
Annotation release Status Assembly Chr Location
100 current UIUC_Espe_1.0 (GCF_008692095.1) 19 NC_045751.1 (10450980..10535402)

Chromosome 19 - NC_045751.1Genomic Context describing neighboring genes Neighboring gene galactose-specific lectin nattectin-like Neighboring gene zinc finger protein 638 Neighboring gene uncharacterized LOC116669539 Neighboring gene cytochrome P450 26B1

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_045751.1 Chromosome 19 Reference UIUC_Espe_1.0 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: Etheostoma spectabile 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 UIUC_Espe_1.0 Primary Assembly

Genomic

  1. NC_045751.1 Reference UIUC_Espe_1.0 Primary Assembly

    Range
    10450980..10535402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_032499361.1 → XP_032355252.1  dysferlin isoform X1

    Conserved Domains (11) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1289
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1634 → 1757
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1868 → 1999
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804 → 874
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2010 → 2121
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  2. XM_032499363.1 → XP_032355254.1  dysferlin isoform X3

    Conserved Domains (11) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1289
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1630 → 1753
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1864 → 1995
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804 → 874
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2006 → 2117
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  3. XM_032499367.1 → XP_032355258.1  dysferlin isoform X7

    Conserved Domains (12) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1289
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1610 → 1733
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1844 → 1975
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1484 → 1711
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:804 → 874
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1986 → 2097
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  4. XM_032499366.1 → XP_032355257.1  dysferlin isoform X6

    Conserved Domains (11) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1289
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1620 → 1743
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1854 → 1985
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804 → 874
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1996 → 2107
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  5. XM_032499362.1 → XP_032355253.1  dysferlin isoform X2

    Conserved Domains (11) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1163 → 1288
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1633 → 1756
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1867 → 1998
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:890 → 948
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804 → 874
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2009 → 2120
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  6. XM_032499365.1 → XP_032355256.1  dysferlin isoform X5

    Conserved Domains (11) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1278
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 560
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1623 → 1746
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1857 → 1988
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:879 → 937
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:793 → 863
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:704 → 761
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1999 → 2110
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  7. XM_032499371.1 → XP_032355262.1  dysferlin isoform X11

    Conserved Domains (11) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1278
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 560
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1619 → 1742
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1853 → 1984
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:879 → 937
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:793 → 863
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:704 → 761
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1995 → 2106
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  8. XM_032499374.1 → XP_032355265.1  dysferlin isoform X13

    Conserved Domains (12) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1278
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 560
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1599 → 1722
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1833 → 1964
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:879 → 937
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1473 → 1700
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:793 → 863
    FerB; FerB (NUC096) domain
    pfam08151
    Location:345 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:704 → 761
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1975 → 2086
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 135
    C2; C2 domain

  9. XM_032499364.1 → XP_032355255.1  dysferlin isoform X4

    Conserved Domains (11) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1159 → 1284
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:395 → 566
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1629 → 1752
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1863 → 1994
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:885 → 943
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:799 → 869
    FerB; FerB (NUC096) domain
    pfam08151
    Location:340 → 389
    FerI; FerI (NUC094) domain
    pfam08165
    Location:710 → 767
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2005 → 2116
    Ferlin_C; Ferlin C-terminus

  10. XM_032499369.1 → XP_032355260.1  dysferlin isoform X9

    Conserved Domains (11) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1159 → 1284
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:395 → 566
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1625 → 1748
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1859 → 1990
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:885 → 943
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:799 → 869
    FerB; FerB (NUC096) domain
    pfam08151
    Location:340 → 389
    FerI; FerI (NUC094) domain
    pfam08165
    Location:710 → 767
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2001 → 2112
    Ferlin_C; Ferlin C-terminus

  11. XM_032499372.1 → XP_032355263.1  dysferlin isoform X12

    Conserved Domains (11) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1273
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:395 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1614 → 1737
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1848 → 1979
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:874 → 932
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:788 → 858
    FerB; FerB (NUC096) domain
    pfam08151
    Location:340 → 389
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1990 → 2101
    Ferlin_C; Ferlin C-terminus

  12. XM_032499370.1 → XP_032355261.1  dysferlin isoform X10

    Conserved Domains (12) summary
    cd04011
    Location:232 → 341
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1273
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:395 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1594 → 1717
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:10 → 130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1828 → 1959
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:874 → 932
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1468 → 1695
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:788 → 858
    FerB; FerB (NUC096) domain
    pfam08151
    Location:340 → 389
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1970 → 2081
    Ferlin_C; Ferlin C-terminus

  13. XM_032499368.1 → XP_032355259.1  dysferlin isoform X8

    Conserved Domains (11) summary
    cd04011
    Location:163 → 272
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1090 → 1215
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:326 → 497
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1560 → 1683
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1794 → 1925
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:816 → 874
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:730 → 800
    FerB; FerB (NUC096) domain
    pfam08151
    Location:271 → 320
    FerI; FerI (NUC094) domain
    pfam08165
    Location:641 → 698
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1936 → 2047
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1 → 61
    C2; C2 domain
Nucleotide Protein
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