C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSDARG00000007370 dysf 7955 - 7:26728112-26864332 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSDART00000082620 dysf-201 26796246-26852527 protein_coding
  ENSDART00000135018 dysf-002 26837575-26860857 protein_coding
  ENSDART00000135415 dysf-001 26728112-26864332 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainHeartKidneyENSDART00000135018ENSDART00000135415
Transcript ID Brain Heart Kidney
ENSDART00000135018 N/A 0.606±0.00 N/A
ENSDART00000135415 0.139±0.00 N/A 0.382±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001778 IMP plasma membrane repair
GO:0005515 IEA protein binding
GO:0016021 IEA integral to membrane
GO:0030315 IDA T-tubule
GO:0033292 IMP T-tubule organization
GO:0042383 IDA sarcolemma
GO:0048644 IMP muscle organ morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSG00000135636 DYSF dysferlin protein_coding Homo_sapiens
ENSMUSG00000033788 Dysf dysferlin protein_coding Mus_musculus

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