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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Epinephelus lanceolatus (giant grouper) ]

Gene ID: 117245766, updated on 10-Apr-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
EnsemblRapid:ENSELGG00000006096
Gene type
protein coding
RefSeq status
MODEL
Organism
Epinephelus lanceolatus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata; Eupercaria; Perciformes; Serranoidei; Serranidae; Epinephelinae; Epinephelini; Epinephelus
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 20
Exon count:
57
Annotation release Status Assembly Chr Location
100 current ASM528154v1 (GCF_005281545.1) 20 NC_047010.1 (32539713..32686634, complement)

Chromosome 20 - NC_047010.1Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene cytochrome P450 26B1 Neighboring gene type-2 ice-structuring protein-like Neighboring gene ladderlectin-like

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_047010.1 Chromosome 20 Reference ASM528154v1 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

Process Evidence Code Pubs
involved_in membrane fusion IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in plasma membrane organization IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
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: Epinephelus lanceolatus 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 ASM528154v1 Primary Assembly

Genomic

  1. NC_047010.1 Reference ASM528154v1 Primary Assembly

    Range
    32539713..32686634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_033609246.1 → XP_033465137.1  dysferlin

    Related
    ENSELGP00000013239.1, ENSELGT00000013690.1
    Conserved Domains (12) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1164 → 1292
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1629 → 1752
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1863 → 1994
    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:2005 → 2116
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1376 → 1446
    C2; C2 domain
Nucleotide Protein
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