DES report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006998Biological processnuclear envelope organization
GO_0007010Biological processcytoskeleton organization
GO_0006936Biological processmuscle contraction
GO_0045109Biological processintermediate filament organization
GO_0060538Biological processskeletal muscle organ development
GO_0008016Biological processregulation of heart contraction
GO_0097512Cellular componentcardiac myofibril
GO_0031594Cellular componentneuromuscular junction
GO_0030018Cellular componentZ disc
GO_0005916Cellular componentfascia adherens
GO_0051286Cellular componentcell tip
GO_0042383Cellular componentsarcolemma
GO_0070062Cellular componentextracellular exosome
GO_0005635Cellular componentnuclear envelope
GO_0005882Cellular componentintermediate filament
GO_0005911Cellular componentcell-cell junction
GO_0045111Cellular componentintermediate filament cytoskeleton
GO_0005829Cellular componentcytosol
GO_0014704Cellular componentintercalated disc
GO_0005634Cellular componentnucleus
GO_0005200Molecular functionstructural constituent of cytoskeleton
GO_0042802Molecular functionidentical protein binding
GO_0008092Molecular functioncytoskeletal protein binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameDES
Protein nameDesmin
Synonymstmp_locus_29
hCG_14764
DescriptionFUNCTION: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity . In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures . May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces (By similarity). Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity). .

AccessionsQ5RLN2
L7RDA5
P17661
Q5RLN0
A0A7R6M6U0
Q5RLN1
ENST00000373960.4
Q53SB5
L7R9R4