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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Trichomycterus rosablanca ]

Gene ID: 134312325, updated on 29-Mar-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Gene type
protein coding
RefSeq status
MODEL
Organism
Trichomycterus rosablanca
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Siluriformes; Trichomycteridae; Trichomycterus
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 4
Exon count:
57
Annotation release Status Assembly Chr Location
RS_2024_02 current fTriRos1.hap1 (GCF_030014385.1) 4 NC_085991.1 (31906766..32037091)

Chromosome 4 - NC_085991.1Genomic Context describing neighboring genes Neighboring gene mastermind-like protein 2 Neighboring gene myotubularin 1 Neighboring gene cytochrome P450 26B1 Neighboring gene exocyst complex component 6B

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_085991.1 Chromosome 4 Reference fTriRos1.hap1

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
  2. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

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: GCF_030014385.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference fTriRos1.hap1

Genomic

  1. NC_085991.1 Reference fTriRos1.hap1

    Range
    31906766..32037091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_062994181.1 → XP_062850251.1  dysferlin isoform X2

  2. XM_062994180.1 → XP_062850250.1  dysferlin isoform X1

  3. XM_062994182.1 → XP_062850252.1  dysferlin isoform X3

Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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