Species

Homo sapiens

Symbol

BSCL2

Name

BSCL2 lipid droplet biogenesis associated, seipin

Synonyms

Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Bernardinelli-Seip congenital lipodystrophy 2 (seipin)

Biotype

protein coding gene

Automated Description

Enables phospholipid binding activity. Involved in lipid droplet formation. Located in endoplasmic reticulum membrane and lipid droplet. Implicated in autosomal dominant distal hereditary motor neuronopathy 13; congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy.

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR21212

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr11:62689289...62709845 - (20.56 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

BSCL2 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

BSCL2 role	BSCL2 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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