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BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [ Homo sapiens (human) ]

Gene ID: 26580, updated on 11-Apr-2024

Summary

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Official Symbol
BSCL2provided by HGNC
Official Full Name
BSCL2 lipid droplet biogenesis associated, seipinprovided by HGNC
Primary source
HGNC:HGNC:15832
See related
Ensembl:ENSG00000168000 MIM:606158; AllianceGenome:HGNC:15832
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HMN5; PELD; HMN5C; SPG17; GNG3LG; HMND13
Summary
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 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, Mar 2011]
Expression
Broad expression in testis (RPKM 67.3), brain (RPKM 64.7) and 25 other tissues See more
Orthologs
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Genomic context

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See BSCL2 in Genome Data Viewer
Location:
11q12.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62690262..62709537, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62679681..62698954, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62457734..62477009, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4839 Neighboring gene UBX domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62455030-62455530 Neighboring gene HNRNPUL2-BSCL2 readthrough (NMD candidate) Neighboring gene LRRN4 C-terminal like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62465704-62466296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62473607-62474280 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:62475600-62476799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4840 Neighboring gene G protein subunit gamma 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:62482895-62483396 Neighboring gene heterogeneous nuclear ribonucleoprotein U like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4843 Neighboring gene tetratricopeptide repeat domain 9C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Retinyl esters form lipid droplets independently of triacylglycerol and seipin. Molenaar MR, et al. J Cell Biol, 2021 Oct 4. PMID 34323918, Free PMC Article
  2. Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure. Zoni V, et al. Proc Natl Acad Sci U S A, 2021 Mar 9. PMID 33674387, Free PMC Article
  3. Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane. Prasanna X, et al. PLoS Biol, 2021 Jan. PMID 33481779, Free PMC Article
  4. Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner. Sołtysik K, et al. J Cell Biol, 2021 Jan 4. PMID 33315072, Free PMC Article
  5. SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis. Jin Y, et al. Int J Mol Sci, 2020 Nov 2. PMID 33147895, Free PMC Article

See all (124) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.
    Title: Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy.
  2. Pathogenic variants in three families with distal muscle involvement.
    Title: Pathogenic variants in three families with distal muscle involvement.
  3. A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.
    Title: A motor neuron disease-associated mutation produces non-glycosylated Seipin that induces ER stress and apoptosis by inactivating SERCA2b.
  4. [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].
    Title: [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].
  5. Retinyl esters form lipid droplets independently of triacylglycerol and seipin.
    Title: Retinyl esters form lipid droplets independently of triacylglycerol and seipin.
  6. Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure.
    Title: Seipin accumulates and traps diacylglycerols and triglycerides in its ring-like structure.
  7. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
    Title: Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
  8. Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
    Title: Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
  9. Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane.
    Title: Seipin traps triacylglycerols to facilitate their nanoscale clustering in the endoplasmic reticulum membrane.
  10. Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner.
    Title: Nuclear lipid droplets form in the inner nuclear membrane in a seipin-independent manner.
Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough HNRNPUL2-BSCL2

Readthrough gene: HNRNPUL2-BSCL2, Included gene: HNRNPUL2

Homology

Clone Names

  • MGC4694, FLJ16651

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid droplet formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid droplet formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipid droplet organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid droplet organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in lipid storage IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid storage IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of lipid catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
seipin
Names
BSCL2, seipin lipid droplet biogenesis associated
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Bernardinelli-Seip congenital lipodystrophy type 2 protein

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008461.1 RefSeqGene

    Range
    6868..24313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_235

mRNA and Protein(s)

  1. NM_001122955.4 → NP_001116427.1  seipin isoform 1

    See identical proteins and their annotated locations for NP_001116427.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF052149, AP001458
    Consensus CDS
    CCDS44627.1
    UniProtKB/TrEMBL
    A0A804HK11
    Related
    ENSP00000354032.5, ENST00000360796.10
    Conserved Domains (2) summary
    PHA03169
    Location:357 → 412
    PHA03169; hypothetical protein; Provisional
    pfam06775
    Location:103 → 307
    Seipin; Putative adipose-regulatory protein (Seipin)

  2. NM_001130702.2 → NP_001124174.2  seipin isoform 3

    See identical proteins and their annotated locations for NP_001124174.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK027524, DB296305
    Consensus CDS
    CCDS55769.1
    UniProtKB/Swiss-Prot
    Q96G97
    Related
    ENSP00000278893.7, ENST00000278893.11
    Conserved Domains (1) summary
    pfam06775
    Location:39 → 224
    Seipin; Putative adipose-regulatory protein (Seipin)

  3. NM_001386027.1 → NP_001372956.1  seipin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS91493.1
    UniProtKB/TrEMBL
    A0A024R541, A0A804HK11, J3KQ12
    Related
    ENSP00000385332.1, ENST00000405837.5
    Conserved Domains (2) summary
    PHA03169
    Location:355 → 414
    PHA03169; hypothetical protein; Provisional
    pfam06775
    Location:103 → 307
    Seipin; Putative adipose-regulatory protein (Seipin)

  4. NM_001386028.1 → NP_001372957.1  seipin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP001458
    Consensus CDS
    CCDS44627.1
    UniProtKB/TrEMBL
    A0A804HK11
    Related
    ENSP00000505838.1, ENST00000679883.1
    Conserved Domains (2) summary
    PHA03169
    Location:357 → 412
    PHA03169; hypothetical protein; Provisional
    pfam06775
    Location:103 → 307
    Seipin; Putative adipose-regulatory protein (Seipin)

  5. NM_032667.6 → NP_116056.3  seipin isoform 2

    See identical proteins and their annotated locations for NP_116056.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AK027524, BC041640, DB296305
    Consensus CDS
    CCDS8031.1
    UniProtKB/Swiss-Prot
    G3XAE4, Q567S1, Q96G97, Q96SV1, Q9BSQ0
    UniProtKB/TrEMBL
    A0A024R549, Q53EN3
    Related
    ENSP00000384080.3, ENST00000407022.7
    Conserved Domains (2) summary
    PHA03169
    Location:293 → 348
    PHA03169; hypothetical protein; Provisional
    pfam06775
    Location:39 → 243
    Seipin; Putative adipose-regulatory protein (Seipin)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    62690262..62709537 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    62679681..62698954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96G97.3 GenPept UniProtKB/Swiss-Prot:Q96G97

Gene LinkOut

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