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FLASH GENE

Symbol

BSCL2

contributors: mct/npt - updated : 09-03-2009

HGNC name	Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
HGNC id	15832

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BSCL2 Berardinelli-Seip congenital generalized lipodystrophy type 2 SPG17 spastic paraplegia 17
Location	11q12.3      Physical location : 62.457.746 - 62.477.046
Synonym name	guanine nucleotide binding protein (G protein), gamma 3, linked
	spastic paraplegia 17 (Silver syndrome)
Synonym symbol(s)	SPG17, GNG3LG, SEIPIN, MGC4694, HMN5

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, opposite orientation
text	head to head with GNG3
STRUCTURE	17.12 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Binding site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 2033 - 462 variably expressed in most tissues Magre (2001) variant 2 11 - 1526 - 398 variably expressed in most tissues Magre, 2001 variant 3 - - 2057 - 462 brain Magre (2001)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol endocrine brain diencephalon pituitary     Nervous brain diencephalon hypothalamus   highly Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Epithelial secretory glandular endocrine   Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains

at least two hydrophobic stretches, indicative of a transmembrane protein, no similarity with other known proteins or consensus motif

HOMOLOGY

interspecies	homolog to murine guanine-nucleotide binding protein,gamma 3
	homolog to Drosophila cg9904 protein

Homologene

FAMILY

seipin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	transmembrane protein that resides in the endoplasmic reticulum and concentrates at junctions between the ER and cytosolic lipid droplets

basic FUNCTION	may play a role in the differentiation of mesenchymal cells into preadipocyte
	involved in droplet assembly and/or maintenance
	strongly induced during adipocyte differentiation, and the induction of BSCL2 expression was essential for adipogenesis
	essential, cell-autonomous regulator of adipogenesis
	required for normal lipid droplet morphology
	playspotentially at least a structural role in organizing droplets or in communication between droplets and ER

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	regulation of body fat distribution and insulin resistance

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BSCL2 , SPG17

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function in distal hereditary motor neuropathy type V or CMT2D (defect of glycosylation of seipin resulting in aggregates formation and in neurodegeneration)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS