AutismKB 2.0

Annotation Details for DYSF


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Basic Information Top
Gene Symbol:DYSF ( FER1L1,FLJ00175,FLJ90168,LGMD2B )
Gene Full Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Band: 2p13.2
Quick LinksEntrez ID:8291; OMIM: 603009; Uniprot ID:DYSF_HUMAN; ENSEMBL ID: ENSG00000135636; HGNC ID: 3097
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005768IDA-endosome20595382
GO:0005769IDA-early endosome20595382
GO:0005770IDA-late endosome20595382
GO:0005815IDA-microtubule organizing center-
GO:0005886IDA-plasma membrane20595382
GO:0016021IEA-integral component of membrane-
GO:0030027IEA-lamellipodium-
GO:0030139IDA-endocytic vesicle20595382
GO:0030315IDA-T-tubule17185750
GO:0030659TAS-cytoplasmic vesicle membrane-
GO:0042383IDA-sarcolemma17185750
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005509IDA-calcium ion binding24239457
GO:0005515IPI-protein binding17185750
GO:0005543IDA-phospholipid binding24239457
GO:0005544IMP-calcium-dependent phospholipid binding11959863
GO ID Evidence Qualifier GO_term References
GO:0001778IEA-plasma membrane repair-
GO:0006906IEA-vesicle fusion-
GO:0006936TAS-muscle contraction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DYSFCAV311389611532985 Affinity Capture-Western
DYSFCAV310730711532985 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1349385
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-070501-1'