• Gene id: 26580

Gene Summary

• Gene Symbol: BSCL2   Gene   UCSC   Ensembl
• Aliases: GNG3LG, HMN5, PELD, SPG17
• Gene name: BSCL2, seipin lipid droplet biogenesis associated
• Alternate names: seipin, Berardinelli-Seip congenital lipodystrophy 2 (seipin), Bernardinelli-Seip congenital lipodystrophy type 2 protein,
• Gene location: 11q12.3 (62709618: 62690261)     Exons: 13     NC_000011.10
• Gene summary(Entrez): This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystr
• OMIM: 606158

Protein Summary

• Protein general information: Q96G97  
  • Name: Seipin (Bernardinelli Seip congenital lipodystrophy type 2 protein)
  • Length: 398  
  • Mass: 44,392
• Sequence:

  MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCD
  SSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLH
  YRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRY
  LLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
  STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPV
  LETLGSSEPAGGALRQRPTCSSS

• Structural information:
  • Interpro: IPR009617  
  • STRING: ENSP00000354032
• Other Databases: GeneCards:  BSCL2  Malacards:  BSCL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0019915	lipid storage	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0034389	lipid particle organization	IMP	biological process
GO:0045444	fat cell differentiation	ISS	biological process
GO:0050995	negative regulation of lipid catabolic process	ISS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0019915	lipid storage	IEA	biological process
GO:0019915	lipid storage	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0034389	lipid particle organization	IMP	biological process
GO:0045444	fat cell differentiation	ISS	biological process
GO:0050995	negative regulation of lipid catabolic process	ISS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019915	lipid storage	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0034389	lipid particle organization	IMP	biological process
GO:0045444	fat cell differentiation	ISS	biological process
GO:0050995	negative regulation of lipid catabolic process	ISS	biological process

Diseases

Associated diseases	References
Distal hereditary motor neuropathies	KEGG: H00856
Hereditary spastic paraplegia	KEGG: H00266
Neuropathy	OMIM: 606158
Congenital generalized lipodystrophy	KEGG: H00419
Multiple sclerosis	GAD: 17420921
Silver syndrome	GAD: 14981520
Teratozoospermia	MIK: 24778225
Teratozoospermia	MIK: 25523709
Silver spastic paraplegia syndrome	OMIM: 606158
Encephalopathy	OMIM: 606158
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 24778225

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24778225	Teratozoospermia				Male infertility
25523709	Teratozoospermia syndrome				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq