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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Puntigrus tetrazona (Sumatra barb) ]

Gene ID: 122348501, updated on 8-May-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
EnsemblRapid:ENSPRZG00000031116
Gene type
protein coding
RefSeq status
MODEL
Organism
Puntigrus tetrazona
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Cyprinidae; Smiliogastrinae; Puntigrus
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 ASM1883169v1 (GCF_018831695.1) 7 NC_056705.1 (14733180..14794938, complement)

Chromosome 7 - NC_056705.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC122348360 Neighboring gene uncharacterized LOC122348400 Neighboring gene E3 ubiquitin-protein ligase TRIM39-like Neighboring gene mastermind-like protein 2

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_056705.1 Chromosome 7 Reference ASM1883169v1 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: Puntigrus tetrazona 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 ASM1883169v1 Primary Assembly

Genomic

  1. NC_056705.1 Reference ASM1883169v1 Primary Assembly

    Range
    14733180..14794938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_043244014.1 → XP_043099949.1  dysferlin isoform X13

    Related
    ENSPRZP00000067188.1, ENSPRZT00000077238.1
    Conserved Domains (8) summary
    cd04011
    Location:222 → 330
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1138 → 1266
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 544
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1580 → 1703
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1814 → 1945
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934 → 990
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1350 → 1420
    C2; C2 domain

  2. XM_043244013.1 → XP_043099948.1  dysferlin isoform X12

    Conserved Domains (8) summary
    cd04011
    Location:222 → 330
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1138 → 1266
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 544
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1599 → 1722
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1833 → 1964
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934 → 990
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1350 → 1420
    C2; C2 domain

  3. XM_043244010.1 → XP_043099945.1  dysferlin isoform X9

    Related
    ENSPRZP00000067177.1, ENSPRZT00000077227.1
    Conserved Domains (8) summary
    cd04011
    Location:222 → 330
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1149 → 1277
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1591 → 1714
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1825 → 1956
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:945 → 1001
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1361 → 1431
    C2; C2 domain

  4. XM_043244002.1 → XP_043099937.1  dysferlin isoform X2

    Conserved Domains (8) summary
    cd04011
    Location:222 → 330
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1149 → 1277
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1614 → 1737
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1848 → 1979
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:945 → 1001
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1361 → 1431
    C2; C2 domain

  5. XM_043244012.1 → XP_043099947.1  dysferlin isoform X11

    Related
    ENSPRZP00000067162.1, ENSPRZT00000077212.1
    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1140 → 1268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 546
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1601 → 1724
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1835 → 1966
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:936 → 992
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1352 → 1422
    C2; C2 domain

  6. XM_043244006.1 → XP_043099941.1  dysferlin isoform X5

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1140 → 1268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 546
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1605 → 1728
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1839 → 1970
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:936 → 992
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1352 → 1422
    C2; C2 domain

  7. XM_043244007.1 → XP_043099942.1  dysferlin isoform X6

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1151 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1602 → 1725
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1836 → 1967
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1349 → 1419
    C2; C2 domain

  8. XM_043244009.1 → XP_043099944.1  dysferlin isoform X8

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1151 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1592 → 1715
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1826 → 1957
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1363 → 1433
    C2; C2 domain

  9. XM_043244005.1 → XP_043099940.1  dysferlin isoform X4

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1151 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1611 → 1734
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1845 → 1976
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1363 → 1433
    C2; C2 domain

  10. XM_043244003.1 → XP_043099938.1  dysferlin isoform X3

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1151 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1612 → 1735
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1846 → 1977
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1363 → 1433
    C2; C2 domain

  11. XM_043244001.1 → XP_043099936.1  dysferlin isoform X1

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1151 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1616 → 1739
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1850 → 1981
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1363 → 1433
    C2; C2 domain

  12. XM_043244011.1 → XP_043099946.1  dysferlin isoform X10

    Related
    ENSPRZP00000067128.1, ENSPRZT00000077178.1
    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1140 → 1268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 546
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1582 → 1705
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1816 → 1947
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:936 → 992
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1352 → 1422
    C2; C2 domain

  13. XM_043244008.1 → XP_043099943.1  dysferlin isoform X7

    Conserved Domains (8) summary
    cd04011
    Location:224 → 332
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1151 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:386 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1593 → 1716
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1827 → 1958
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1363 → 1433
    C2; C2 domain
Nucleotide Protein
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