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

    Gene ID: 26580, updated on 2-Nov-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 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]
    Expression
    Broad expression in testis (RPKM 67.3), brain (RPKM 64.7) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62690262..62709537, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62679681..62698954, complement)
    RS_2024_09 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 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. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. Shirwalkar HU, et al. J Inherit Metab Dis, 2008 Dec. PMID 18690553
    2. Role of seipin in lipid droplet morphology and hepatitis C virus life cycle. Clément S, et al. J Gen Virol, 2013 Oct. PMID 23907395
    3. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. Rakocević-Stojanović V, et al. J Neurol Sci, 2010 Sep 15. PMID 20598714
    4. Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies. Sánchez-Iglesias S, et al. Neuroscience, 2019 Jan 1. PMID 30447390
    5. [Silver syndrome--case report]. Kochański A, et al. Neurol Neurochir Pol, 2007 Nov-Dec. PMID 18224579

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-kappaB pathway.
      Title: Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-κB pathway.
    2. 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.
    3. Pathogenic variants in three families with distal muscle involvement.
      Title: Pathogenic variants in three families with distal muscle involvement.
    4. 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.
    5. [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].
    6. Retinyl esters form lipid droplets independently of triacylglycerol and seipin.
      Title: Retinyl esters form lipid droplets independently of triacylglycerol and seipin.
    7. 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.
    8. 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.
    9. Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
      Title: Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (84)

    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)

    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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    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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