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MIRAGE
BSCL2 lipid droplet biogenesis associated, seipin

Summary
Gene Symbol
  • BSCL2
Organism
Homo sapiens (human)
NCBI Gene
26580
PubChem
26580
Alliance of Genome Resources
JoGo
BSCL2
TogoVar
BSCL2
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Congenital generalized lipodystrophy
  • Diabetes mellitus
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Hereditary spastic paraplegia
  • Lipid degradation
  • Lipid droplet
  • Lipid metabolism
  • Neuropathy
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
J3KQ12
Q96G97
  • Bernardinelli-Seip congenital lipodystrophy type 2 protein
A0A024R549
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 10 in total
GO Term Evidence Code PMID
lipid catabolic process
lipid storage
lipid storage
lipid droplet organization
lipid droplet organization
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
Seipin
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • T: Signal transduction mechanisms
Displaying all 4 entries
Gene Ontology
lipid droplet formation
lipid droplet organization
lipid metabolic process
lipid storage
Displaying 1 entry
InterPro
Seipin family
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13
DOID:0110770 hereditary spastic paraplegia 17
DOID:0111136 congenital generalized lipodystrophy type 2
DOID:2476 hereditary spastic paraplegia
DOID:811 lipodystrophy
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026