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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Trematomus bernacchii (emerald rockcod) ]

Gene ID: 117498133, updated on 19-Mar-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
EnsemblRapid:ENSTBNG00005014521
Gene type
protein coding
RefSeq status
MODEL
Organism
Trematomus bernacchii
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata; Eupercaria; Perciformes; Notothenioidei; Nototheniidae; Trematomus
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: Un
Exon count:
58
Annotation release Status Assembly Chr Location
100 current fTreBer1.1 (GCF_902827165.1) Unplaced Scaffold NW_022987801.1 (609090..692691, complement)

NW_022987801.1Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene cytochrome P450 26B1 Neighboring gene macrophage mannose receptor 1-like Neighboring gene trace amine-associated receptor 13c-like

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_022987801 Unplaced Scaffold Reference fTreBer1.1

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: Trematomus bernacchii 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 fTreBer1.1

Genomic

  1. NW_022987801.1 Reference fTreBer1.1

    Range
    609090..692691 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_034150223.1 → XP_034006114.1  dysferlin isoform X4

    Related
    ENSTBNP00005038986.1, ENSTBNT00005040377.1
    Conserved Domains (11) summary
    cd04011
    Location:236 → 345
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1152 → 1280
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:399 → 559
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1597 → 1720
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1831 → 1962
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:878 → 936
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:792 → 862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:344 → 393
    FerI; FerI (NUC094) domain
    pfam08165
    Location:703 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1973 → 2061
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 129
    C2; C2 domain

  2. XM_034150220.1 → XP_034006111.1  dysferlin isoform X1

    Related
    ENSTBNP00005038916.1, ENSTBNT00005040306.1
    Conserved Domains (11) summary
    cd04011
    Location:236 → 345
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1163 → 1291
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:399 → 570
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1628 → 1751
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1862 → 1993
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:889 → 947
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:803 → 873
    FerB; FerB (NUC096) domain
    pfam08151
    Location:344 → 393
    FerI; FerI (NUC094) domain
    pfam08165
    Location:714 → 767
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2004 → 2092
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 129
    C2; C2 domain

  3. XM_034150222.1 → XP_034006113.1  dysferlin isoform X3

    Conserved Domains (11) summary
    cd04011
    Location:231 → 340
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1147 → 1275
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:394 → 554
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1592 → 1715
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1826 → 1957
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:873 → 931
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:787 → 857
    FerB; FerB (NUC096) domain
    pfam08151
    Location:339 → 388
    FerI; FerI (NUC094) domain
    pfam08165
    Location:698 → 751
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1968 → 2056
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:5 → 124
    C2; C2 domain

  4. XM_034150221.1 → XP_034006112.1  dysferlin isoform X2

    Conserved Domains (11) summary
    cd04011
    Location:236 → 345
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1152 → 1280
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:399 → 559
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1617 → 1740
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1851 → 1982
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:878 → 936
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:792 → 862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:344 → 393
    FerI; FerI (NUC094) domain
    pfam08165
    Location:703 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1993 → 2081
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:20 → 129
    C2; C2 domain
Nucleotide Protein
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