BSCL2

Protein identityUniProt · HPA

UniProt accession

Q96G97

Gene

BSCL2

Ensembl

ENSG00000168000

Chromosome

11

Canonical length

398 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes the multi-pass transmembrane 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 lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]

Canonical amino-acid sequenceUniProt

398 residues, UniProt reviewed canonical sequence.

>Q96G97|BSCL2
     1  MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV
    61  SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN
   121  QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE
   181  VELYADYREN SYVPTTGAII EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA
   241  SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE
   301  STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG SWEDAALLTE
   361  ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BSCL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.49

Highest tissue expression

275 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BSCL2.

Disease | AllUniProt

Conditions BSCL2 is implicated in, by any mechanism.

• Lipodystrophy, congenital generalized, 2 (CGL2) MIM:269700
• Spastic paraplegia 17, autosomal dominant (SPG17) MIM:270685
• Neuronopathy, distal hereditary motor, autosomal dominant 13 (HMND13) MIM:619112
• Encephalopathy, progressive, with or without lipodystrophy (PELD) MIM:615924

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 660 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital generalized lipodystrophy type 2
• Charcot-Marie-Tooth disease type 2
• Severe neurodegenerative syndrome with lipodystrophy
• Berardinelli-Seip congenital lipodystrophy
• Hereditary spastic paraplegia 17

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.01

gnomAD pLI

0

gnomAD missense Z

0.26

DepMap mean gene effect

-0.17

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• fat cell differentiation
• lipid catabolic process
• lipid droplet formation
• lipid droplet organization
• lipid storage
• negative regulation of lipid catabolic process
• positive regulation of cold-induced thermogenesis

Molecular functions

• phospholipid binding

Cellular components

• endoplasmic reticulum membrane
• lipid droplet

Protein domainsUniProt · Pfam · InterPro

• Seipin
• Putative adipose-regulatory protein (Seipin)

KeywordsUniProt

• Congenital generalized lipodystrophy
• Diabetes mellitus
• Endoplasmic reticulum
• Glycoprotein
• Hereditary spastic paraplegia
• Lipid degradation
• Lipid droplet
• Lipid metabolism
• Membrane
• Neurodegeneration
• Neuropathy
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of BSCL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LDAF1
• RAB18
• ZFYVE1
• TSPAN2
• USE1