Bscl2 Gene Summary [Mouse]
Predicted to enable phospholipid binding activity. Involved in several processes, including fat cell differentiation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Acts upstream of or within several processes, including adipose tissue development; cytosolic lipolysis; and lipid droplet formation. Located in endoplasmic reticulum. Is expressed in brown fat; cerebral cortex; early conceptus; and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 13; congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Bscl2 |
| Official Name | Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:MGI Symbol;Acc:MGI:1298392] |
| Ensembl ID | ENSMUSG00000071657 |
| Bio databases IDs | |
| Aliases | Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
| Synonyms | 2900097C17Rik, Berardinelli-Seip congenital lipodystrophy 2 (seipin), BSCL2 lipid droplet biogenesis associated, seipin, GNG3LG, HMN5, HMN5C, HMND13, PELD, SEIPIN, SPG17 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Bscl2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- Seipin and similar proteins
- protein binding
- Putative adipose-regulatory protein (Seipin)
Pathways
Biological processes and signaling networks where the Bscl2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- peripheral neuropathy
- cancer
- breast carcinoma
- urogenital cancer
- breast or ovarian cancer
- epithelial neoplasia
- epithelial cancer
- weight loss
- obesity
phenotypes
- abnormal bone structure
- abnormal cholesterol homeostasis
- abnormal gait
- decreased blood urea nitrogen level
- decreased body length
- decreased bone mineral content
- decreased circulating triglyceride level
- decreased eosinophil cell number
- decreased erythrocyte cell number
- decreased prepulse inhibition
- decreased respiratory quotient
- decreased total body fat amount
- decreased total retina thickness
- improved glucose tolerance
- increased circulating alkaline phosphatase level
- increased circulating calcium level
- increased circulating phosphate level
- increased circulating serum albumin level
- increased circulating total protein level
- increased cornea thickness
- increased fluid intake
- increased lean body mass
- increased leukocyte cell number
- increased mean corpuscular hemoglobin
- increased mean corpuscular volume
- increased mean platelet volume
- increased monocyte cell number
- short tibia
- abnormal adipose tissue development
- abnormal aerobic respiration
- abnormal cellular respiration
- abnormal eosinophil cell number
- abnormal epididymal fat pad morphology
- abnormal epididymis morphology
- abnormal fat cell differentiation
- abnormal fat pad morphology
- abnormal glucose homeostasis
- abnormal hypodermis fat layer morphology
- abnormal intestine morphology
- abnormal leukocyte cell number
- abnormal lipid homeostasis
- abnormal lipid metabolism
- abnormal male germ cell morphology
- abnormal mean corpuscular hemoglobin
- abnormal mean corpuscular volume
- abnormal monocyte cell number
- abnormal phospholipid level
- abnormal prepulse inhibition
- abnormal small intestine morphology
- abnormal sperm flagellum morphology
- abnormal sperm head morphology
- abnormal spermatid morphology
- abnormal spermatogenesis
- abnormal spermiogenesis
- abnormal testis morphology
- abnormal white adipose tissue amount
- abnormal white adipose tissue morphology
- abnormal white adipose tissue physiology
- abnormal white fat cell differentation
- abnormal white fat cell morphology
- asthenozoospermia
- decreased body size
- decreased body weight
- decreased brown adipose tissue amount
- decreased carbon dioxide production
- decreased circulating adiponectin level
- decreased circulating free fatty acid level
- decreased circulating glucose level
- decreased circulating glycerol level
- decreased circulating leptin level
- decreased energy expenditure
- decreased gonadal fat pad weight
- decreased inguinal fat pad weight
- decreased interscapular fat pad weight
- decreased mesenteric fat pad weight
- decreased oxygen consumption
- decreased renal fat pad weight
- decreased retroperitoneal fat pad weight
- decreased subcutaneous adipose tissue amount
- decreased white adipose tissue amount
- decreased white fat cell number
- decreased white fat cell size
- enhanced lipolysis
- enlarged heart
- enlarged kidney
- enlarged liver
- enlarged spleen
- hepatic steatosis
- hyperglycemia
- impaired glucose tolerance
- increased body temperature
- increased brown adipose tissue amount
- increased circulating HDL cholesterol level
- increased circulating cholesterol level
- increased circulating free fatty acid level
- increased circulating glucose level
- increased circulating glycerol level
- increased circulating insulin level
- increased circulating triglyceride level
- increased food intake
- increased liver triglyceride level
- increased liver weight
- insulin resistance
- lipodystrophy
- macrovesicular hepatic steatosis
- male infertility
- microvesicular hepatic steatosis
- oligozoospermia
- polyphagia
- postnatal lethality incomplete penetrance
- preweaning lethality incomplete penetrance
- teratozoospermia
role in cell
- differentiation
- expression in
- production in
- quantity
- number
- formation
- formation in
- morphology
- size
- synthesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- Endoplasmic Reticulum
- lipid droplets
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bscl2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid storage
- lipid catabolic process
- lipid particle organization
- fat cell differentiation
- negative regulation of lipid catabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- lipid particle
Molecular Function
What the gene product does at the molecular level
- protein binding
- phospholipid binding