DYSF report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0046928Biological processregulation of neurotransmitter secretion
GO_0002280Biological processmonocyte activation involved in immune response
GO_0050765Biological processnegative regulation of phagocytosis
GO_0002281Biological processmacrophage activation involved in immune response
GO_0005886Cellular componentplasma membrane
GO_0034451Cellular componentcentriolar satellite
GO_0030139Cellular componentendocytic vesicle
GO_0005769Cellular componentearly endosome
GO_0030672Cellular componentsynaptic vesicle membrane
GO_0042383Cellular componentsarcolemma
GO_0070062Cellular componentextracellular exosome
GO_0030315Cellular componentT-tubule
GO_0005770Cellular componentlate endosome
GO_0005768Cellular componentendosome
GO_0030659Cellular componentcytoplasmic vesicle membrane
GO_0005544Molecular functioncalcium-dependent phospholipid binding
GO_0005543Molecular functionphospholipid binding
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameDYSF
Protein nameDysferlin (Dystrophy-associated fer-1-like protein) (Fer-1-like protein 1)
Minidysferlin
Dysferlin
SynonymsFER1L1
DescriptionFUNCTION: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). .

AccessionsENST00000394120.6 [O75923-14]
ENST00000479049.6
A0A8V8TMV5
ENST00000698057.1
ENST00000409762.5 [O75923-5]
A0A8V8TN49
ENST00000475076.5
E5KVZ4
ENST00000698058.1
ENST00000409366.5 [O75923-10]
ENST00000409651.5 [O75923-8]
ENST00000410020.8 [O75923-13]
ENST00000413539.6 [O75923-2]
ENST00000698059.1
A0A8V8TLV7
Q7Z6P1
ENST00000258104.8 [O75923-1]
B7Z2R1
O75923
ENST00000409744.5 [O75923-12]
ENST00000410041.1 [O75923-11]
A0A8V8TLD2
ENST00000429174.6 [O75923-4]
ENST00000409582.7 [O75923-7]