EFEMP2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0035904Biological processaorta development
GO_1904706Biological processnegative regulation of vascular associated smooth muscle cell proliferation
GO_0097084Biological processvascular associated smooth muscle cell development
GO_1905609Biological processpositive regulation of smooth muscle cell-matrix adhesion
GO_0060414Biological processaorta smooth muscle tissue morphogenesis
GO_1904028Biological processpositive regulation of collagen fibril organization
GO_1904026Biological processregulation of collagen fibril organization
GO_0048251Biological processelastic fiber assembly
GO_1904831Biological processpositive regulation of aortic smooth muscle cell differentiation
GO_0071953Cellular componentelastic fiber
GO_0005576Cellular componentextracellular region
GO_0001527Cellular componentmicrofibril
GO_0070062Cellular componentextracellular exosome
GO_1903561Cellular componentextracellular vesicle
GO_0062023Cellular componentcollagen-containing extracellular matrix
GO_0031012Cellular componentextracellular matrix
GO_0005604Cellular componentbasement membrane
GO_0008201Molecular functionheparin binding
GO_0042803Molecular functionprotein homodimerization activity
GO_0005201Molecular functionextracellular matrix structural constituent
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameEFEMP2
Protein nameEFEMP2 protein
EGF-containing fibulin-like extracellular matrix protein 2 (Fibulin-4) (FIBL-4) (Protein UPH1)
EGF containing fibulin extracellular matrix protein 2
SynonymsUNQ200/PRO226
FBLN4
DescriptionFUNCTION: Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smooth muscle cell (SMC) and in the mechanical properties and wall integrity maintenance of the aorta . In addition, is involved in the control of collagen fibril assembly in tissue throught proteolytic activation of LOX leading to cross- linking of collagen and elastin (By similarity). Also promotes ELN coacervation and participates in the deposition of ELN coacervates on to microfibrils but also regulates ELN cross- linking through LOX interaction . Moreover adheres to the cells through heparin binding in a calcium-dependent manner and regulates vascularlar smooth muscle cells proliferation through angiotensin signaling . .

AccessionsE9PRU1
ENST00000530806.5
ENST00000533347.5
ENST00000526911.1
E9PKA3
ENST00000527277.5
ENST00000527378.1
E9PSC1
ENST00000524408.1
H0YCB5
ENST00000531972.5
E9PNB8
H0YET5
ENST00000307998.11
ENST00000531645.5
ENST00000530850.1
H0YEU0
ENST00000526624.5
H0YCR9
O95967
Q6FH22
E9PI47
E9PRQ8
ENST00000528176.5