NPC2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0015914Biological processphospholipid transport
GO_0046836Biological processglycolipid transport
GO_0032366Biological processintracellular sterol transport
GO_0009615Biological processresponse to virus
GO_0008203Biological processcholesterol metabolic process
GO_0032367Biological processintracellular cholesterol transport
GO_0010878Biological processcholesterol storage
GO_0019747Biological processregulation of isoprenoid metabolic process
GO_0010467Biological processgene expression
GO_0033344Biological processcholesterol efflux
GO_0030301Biological processcholesterol transport
GO_0042632Biological processcholesterol homeostasis
GO_0035578Cellular componentazurophil granule lumen
GO_0005615Cellular componentextracellular space
GO_0005576Cellular componentextracellular region
GO_0005764Cellular componentlysosome
GO_0070062Cellular componentextracellular exosome
GO_0005783Cellular componentendoplasmic reticulum
GO_0043202Cellular componentlysosomal lumen
GO_0019899Molecular functionenzyme binding
GO_0015485Molecular functioncholesterol binding
GO_0120020Molecular functioncholesterol transfer activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameNPC2
Protein nameNPC intracellular cholesterol transporter 2
NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1) (Human epididymis-specific protein 1) (He1) (Niemann-Pick disease type C2 protein)
NPC intracellular cholesterol transporter 2 (Epididymal secretory protein E1)
SynonymshCG_21712
HE1
DescriptionFUNCTION: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment . Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 . May bind and mobilize cholesterol that is associated with membranes . NPC2 binds cholesterol with a 1:1 stoichiometry . Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol . The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity). .

AccessionsENST00000238633.6
E7EMS2
ENST00000554482.1
G3V3D1
H0YIZ1
ENST00000556009.5
P61916
J3KMY5
H0YJE2
A0A024R6C0
ENST00000555619.6 [P61916-1]
G3V2V8
G3V3E8
ENST00000553490.5
ENST00000557510.5
ENST00000541064.5 [P61916-2]
ENST00000555592.1
ENST00000434013.6