BSCL2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0140042Biological processlipid droplet formation
GO_0019915Biological processlipid storage
GO_0120162Biological processpositive regulation of cold-induced thermogenesis
GO_0034389Biological processlipid droplet organization
GO_0045444Biological processfat cell differentiation
GO_0016042Biological processlipid catabolic process
GO_0050995Biological processnegative regulation of lipid catabolic process
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005811Cellular componentlipid droplet
GO_0005515Molecular functionprotein binding
GO_0005543Molecular functionphospholipid binding

IV. Literature review

[source]
Gene nameBSCL2
Protein nameSeipin
BSCL2 lipid droplet biogenesis associated, seipin
Truncated seipin
Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)
SynonymshCG_2020143
DescriptionFUNCTION: Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis . In association with LDAF1, defines the sites of LD formation in the ER . Also required for growth and maturation of small nascent LDs into larger mature LDs . Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs . Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts . Binds anionic phospholipids including phosphatidic acid . Plays an important role in the differentiation and development of adipocytes (By similarity). .

AccessionsENST00000464544.1
A0A804HK83
ENST00000524862
ENST00000684475.1
A0A804HK11
ENST00000531524.5
ENST00000679883.1 [Q96G97-4]
ENST00000684067.1
E9PJS9
A0A804HHX0
E9PRU2
F8WER0
B1PWS6
ENST00000532818.5
E9PJK0
ENST00000682262.1
E9PSB5
ENST00000421906.5 [Q96G97-2]
ENST00000413908.1
ENST00000524862.6 [Q96G97-4]
ENST00000301781.10
Q96G97
ENST00000407022.7 [Q96G97-2]
ENST00000683025.1
ENST00000684285.1
ENST00000403550.5 [Q96G97-2]
ENST00000682223.1
ENST00000405837.5
F8W7Q8
J3KQ12
H7BYY0
ENST00000403098.6
A0A024R549
ENST00000360796.10 [Q96G97-4]
ENST00000683296.1
ENST00000448568.6
ENST00000533982.1
ENST00000278893.11 [Q96G97-3]
A0A804HJB1
ENST00000528874.1
A0A804HJW1
A0A804HIJ7
H7C2D5
ENST00000449636.6
E9PR78
E9PPN5
H7BXM1
ENST00000530009.1
ENST00000682555.1
A0A804HIE2
A0A0S2Z544
A0A804HKZ9
E9PIU3