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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Cottoperca gobio ]

Gene ID: 115024043, updated on 17-Mar-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
Ensembl:ENSCGOG00000020975
Gene type
protein coding
RefSeq status
MODEL
Organism
Cottoperca gobio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Neoteleostei; Acanthomorphata; Eupercaria; Perciformes; Notothenioidei; Bovichtidae; Cottoperca
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 18
Exon count:
43
Annotation release Status Assembly Chr Location
100 current fCotGob3.1 (GCF_900634415.1) 18 NC_041372.1 (13977580..14026589, complement)

Chromosome 18 - NC_041372.1Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B-like Neighboring gene cytochrome P450 26B1-like Neighboring gene triokinase/FMN cyclase Neighboring gene cytochrome P450 26B1 Neighboring gene zinc finger protein 638 Neighboring gene zf-DHHC domain-containing protein

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_041372.1 Chromosome 18 Reference fCotGob3.1

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
LOW QUALITY PROTEIN: dysferlin-like

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Cottoperca gobio 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 fCotGob3.1

Genomic

  1. NC_041372.1 Reference fCotGob3.1

    Range
    13977580..14026589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_029455423.1 → XP_029311283.1  LOW QUALITY PROTEIN: dysferlin-like

    UniProtKB/TrEMBL
    A0A6J2RK08
    Related
    ENSCGOP00000049167.1, ENSCGOT00000052472.1
    Conserved Domains (9) summary
    cd04011
    Location:237 → 346
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04018
    Location:400 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1123 → 1246
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 130
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1357 → 1488
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    pfam08151
    Location:344 → 394
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1500 → 1611
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:888 → 958
    C2; C2 domain
Nucleotide Protein
Heading Accession and Version

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