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BSCL2 Gene

protein-coding   GIFtS: 63
GCID: GC11M062457

Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)

(Previous name: spastic paraplegia 17 (Silver syndrome))
(Previous symbols: GNG3LG, SPG17)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)1 2     HMN52 5
SPG171 2 5     Spastic Paraplegia 17 (Silver Syndrome)1
GNG3LG1 2     seipin2
Bernardinelli-Seip Congenital Lipodystrophy Type 2 Protein2 3     

External Ids:    HGNC: 158321   Entrez Gene: 265802   Ensembl: ENSG000001680007   OMIM: 6061585   UniProtKB: Q96G973   

Export aliases for BSCL2 gene to outside databases

Previous GC identifers: GC11M064970 GC11M064034 GC11M062708 GC11M062233 GC11M062214 GC11M058786


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BSCL2 Gene:
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)

GeneCards Summary for BSCL2 Gene:
BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) is a protein-coding gene. Diseases associated with BSCL2 include lipodystrophy, and severe neurodegenerative syndrome with lipodystrophy.

UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97
Function: Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the
central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets
maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing
ectopic lipid droplet formation in non-adipose tissues

Gene Wiki entry for BSCL2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BSCL2 gene promoter:
         E2F-3a   E2F-4   Max   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBSCL2 promoter sequence
   Search Chromatin IP Primers for BSCL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BSCL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q13

BSCL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BSCL2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M062457:  view genomic region     (about GC identifiers)

Start:
62,457,734 bp from pter      End:
62,477,317 bp from pter
Size:
19,584 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BSCL2

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97 (See protein sequence)
Recommended Name: Seipin  
Size: 398 amino acids; 44392 Da
Secondary accessions: G3XAE4 Q567S1 Q96SV1 Q9BSQ0
Alternative splicing: 3 isoforms:  Q96G97-2   Q96G97-3   Q96G97-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BSCL2: NX_Q96G97

Explore proteomics data for BSCL2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn88, Asn242
  • Modification sites at PhosphoSitePlus

  • See BSCL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116427.1  NP_001124174.2  NP_116056.3  

    ENSEMBL proteins: 
     ENSP00000405265   ENSP00000385332   ENSP00000278893   ENSP00000354032   ENSP00000384258  
     ENSP00000385561   ENSP00000384080   ENSP00000301781   ENSP00000413209   ENSP00000413340  
     ENSP00000436026   ENSP00000433888   ENSP00000437044   ENSP00000434149   ENSP00000435831  
     ENSP00000431782   ENSP00000393728   ENSP00000435500   ENSP00000436991   ENSP00000414002  

    BSCL2 Human Recombinant Protein Products:

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    Novus Biologicals BSCL2 Lysates
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    Cloud-Clone Corp. Proteins for BSCL2

    BSCL2 Antibody Products:

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    Cloud-Clone Corp. CLIAs for BSCL2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009617 Adipose-reg_protein_Seipin

    Graphical View of Domain Structure for InterPro Entry Q96G97

    ProtoNet protein and cluster: Q96G97

    UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97
    Similarity: Belongs to the seipin family


    BSCL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BSCL2_HUMAN, Q96G97
    Function: Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the
    central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets
    maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing
    ectopic lipid droplet formation in non-adipose tissues

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    BSCL2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BSCL2:
     Increased G1 DNA content  Increased circadian period len 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bscl2):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  no phenotypic analysis  renal/urinary system  reproductive system 

    BSCL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BSCL2: Bscl2tm1Lchan Bscl2tm1.2Gliu Bscl2tm1.1Lchan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BSCL2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BSCL2
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BSCL2 (see all 17):
    hsa-miR-302d hsa-miR-520e hsa-miR-302e hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p hsa-miR-302b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat BSCL2

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    OriGene ORF clones in mouse, rat for BSCL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BSCL2 (NM_032667)
    Sino Biological Human cDNA Clone for BSCL2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BSCL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSCL2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSCL2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BSCL2_HUMAN, Q96G97: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030176integral component of endoplasmic reticulum membrane IDA14981520

    BSCL2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BSCL2 About    
    See pathways by source

    SuperPathContained pathways About
    1Adipogenesis
    Adipogenesis


    1 BioSystems Pathway for BSCL2
        Adipogenesis



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BSCL2
    Interactions:

        GeneGlobe Interaction Network for BSCL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for BSCL2 (Q96G972, 3 ENSP000003540324) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USE1Q9NZ432, 3, ENSP000002638974MINT-66301 I2D: score=5 STRING: ENSP00000263897
    TMEM19Q96HH62, 3, ENSP000002666734MINT-66202 I2D: score=5 STRING: ENSP00000266673
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CANXP278243, ENSP000002474614I2D: score=1 STRING: ENSP00000247461
    SMIM3Q9BZL33I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0016042lipid catabolic process IEA--
    GO:0019915lipid storage IMP19278620
    GO:0034389lipid particle organization IMP19278620
    GO:0045444fat cell differentiation ISS--

    BSCL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BSCL2

    1 Novoseek inferred chemical compound relationship for BSCL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    silver 59 6 17663003 (1), 15242882 (1), 16574104 (1), 17486577 (1) (see all 5)



    BSCL2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BSCL2 gene (3 alternative transcripts): 
    NM_001122955.3  NM_001130702.2  NM_032667.6  

    Unigene Cluster for BSCL2:

    Berardinelli-Seip congenital lipodystrophy 2 (seipin)
    Hs.533709  [show with all ESTs]
    Unigene Representative Sequence: NR_037949
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):
    ENST00000449636 ENST00000405837 ENST00000470529 ENST00000278893(uc009yoc.2)
    ENST00000360796 ENST00000463679 ENST00000403098 ENST00000403550 ENST00000407022(uc001nup.3)
    ENST00000301781(uc001nur.4) ENST00000421906 ENST00000468505 ENST00000532115
    ENST00000412351 ENST00000448568 ENST00000526426 ENST00000531524 ENST00000524862

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BSCL2 (see all 17):
    hsa-miR-302d hsa-miR-520e hsa-miR-302e hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p hsa-miR-302b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BSCL2
    Clone
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    OriGene clones in human, mouse for BSCL2 (see all 19)
    OriGene ORF clones in mouse, rat for BSCL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BSCL2 (NM_032667)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BSCL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSCL2
    Primer
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    OriGene qPCR primer pairs and template standards for BSCL2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BSCL2
      QuantiTect SYBR Green Assays in human, mouse, rat BSCL2
      QuantiFast Probe-based Assays in human, mouse, rat BSCL2

    Additional mRNA sequence: 

    AF052149.1 AK027524.1 AK075317.1 AK223606.1 AK225029.1 AK315423.1 BC004911.2 BC009866.2 
    BC012140.1 BC041640.1 BC093048.1 NR_037948.1 NR_037949.1 

    Selected DOTS entries (see all 34):

    DT.95375370  DT.87016989  DT.100855157  DT.100681232  DT.111937  DT.100867311  DT.100681229  DT.101959604 
    DT.100858255  DT.100681221  DT.87016986  DT.120755021  DT.100681193  DT.120755097  DT.120755018  DT.120755080 
    DT.120755047  DT.100681209  DT.120755099  DT.100681224  DT.100031615  DT.120755029  DT.120755095  DT.97848208 

    Selected AceView cDNA sequences (see all 779):

    BI056588 CR599907 BM968813 BC009866 BM694111 AW860708 AL522006 BE773589 
    CD557861 CA313302 BE251979 BX398758 AK075317 CR591088 AA310803 BE773535 
    D81290 CR616136 AI015593 CR614623 BE701770 CA312628 AK027524 BX400391 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BSCL2 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d · 16e ^ 17 ^ 18a · 18b ^
    SP1:                    -                                                                                   -     -     -     -     -           -     -     -   
    SP2:                                                                                                                                            -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31
    SP1:  -     -     -     -     -     -                                                                                                                     
    SP2:  -     -     -     -     -     -                                                                                                                     
    SP3:              -     -     -     -                                                                                                                     
    SP4:              -     -     -     -                                                                                   -     -                           
    SP5:  -     -     -     -     -     -                                                                                                                     


    ECgene alternative splicing isoforms for BSCL2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BSCL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTGGGTGT
    BSCL2 Expression
    About this image


    BSCL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Testis (Reproductive System)
     
     Adrenal Gland (Endocrine System)
     
     Amnion (Extraembryonic Tissues)
    BSCL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BSCL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533709

    UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97
    Tissue specificity: Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at
    protein level). Highly expressed in brain, testis and adipose tissue

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSCL2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BSCL2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bscl21 , 5 Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) less1, 5 86.12(n)1
    87.33(a)1
      19 (5.76 cM)5
    147051  NM_001136064.21  NP_001129536.11 
     88376875 
    lizard
    (Anolis carolinensis)
    Reptilia BSCL26
    Berardinelli-Seip congenital lipodystrophy 2 (seip...
    65(a)
    1 ↔ 1
    GL343928.1(834-12680)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.21162 Xenopus laevis transcribed sequence with strong similarity to protein refNP_032170.2 (M.musculus) G protein gamma 3 linked gene [Mus musculus] less 83.67(n)    BG486955.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bscl21 Bernardinelli-Seip congenital lipodystrophy 2 (seipin) less 56.02(n)
    54.63(a)
      567403  NM_001037396.1  NP_001032473.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Seipin6
    Seipin
    32(a)
    1 ↔ 1
    X(2513833-2516173)


    ENSEMBL Gene Tree for BSCL2 (if available)
    TreeFam Gene Tree for BSCL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BSCL2 (see all 512)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0223764
    Spastic paraplegia 17, autosomal dominant (SPG17)4--see VAR_0223762 S L mis40--------
    VAR_0223774
    Congenital generalized lipodystrophy 2 (CGL2)4--see VAR_0223772 A P mis40--------
    VAR_0223754
    Spastic paraplegia 17, autosomal dominant (SPG17)4--see VAR_0223752 N S mis40--------
    rs1883837251,2
    --62377550(+) ATGGGA/GAGGGG 5 -- ds50010--------
    rs1483036701,2
    C--62377587(+) TATTAA/GAGGAA 5 -- ds50010--------
    rs1931422291,2
    --62377602(+) GCTGCA/GAACAG 5 -- ds50010--------
    rs1848446451,2
    --62377819(+) GGGAGC/TGGGAA 5 -- ds50010--------
    rs1413988051,2
    --62377847(+) GATAGC/TTTCTC 5 -- ds50010--------
    rs1508184381,2
    --62377864(+) TGGACC/TTCCTA 5 -- ds50010--------
    rs1402256481,2
    --62377918(+) GGAGGC/TCTTCC 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for BSCL2 (62457734 - 62477317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BSCL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv348CNV Loss18451855
    nsv897623CNV Loss21882294
    nsv832182CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): BSCL2
    Locus Specific Mutation Databases (LSDB): BSCL2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BSCL2
    DNA2.0 Custom Variant and Variant Library Synthesis for BSCL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606158   
    OMIM disorders: 269700  270685  600794  
    UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97
  • Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]: An autosomal recessive disorder characterized
    by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis
    and early onset of diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the
    presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease
    overlapping with distal spinal muscular atrophy type 5. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal
    muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These
    constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in
    the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture
    consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease
    starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs.
    Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper
    limbs. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for BSCL2 (see all 32):    
    About MalaCards
    lipodystrophy    severe neurodegenerative syndrome with lipodystrophy    spastic paraplegia 17    bscl2-related neurologic disorders/seipinopathy
    congenital generalized lipodystrophy type 2    berardinelli-seip congenital lipodystrophy    distal hereditary motor neuropathy type v    congenital generalized lipodystrophy
    neuropathy, distal hereditary motor, type va    gars-associated axonal neuropathy    distal hereditary motor neuropathy    autosomal recessive disease
    mandibuloacral dysplasia    motor neuron disease    acanthosis nigricans    insulin resistance
    paraplegia    spasticity    hypertriglyceridemia    hereditary spastic paraplegia

    4 diseases from the University of Copenhagen DISEASES database for BSCL2:
    Lipodystrophy     Acanthosis nigricans     Paraplegia     Motor neuron disease

    BSCL2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for BSCL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipodystrophy, congenital generalized 98.6 27 19226263 (3), 19574402 (2), 20097706 (2), 18093937 (1) (see all 19)
    lipodystrophy 85.2 20 18458148 (3), 18093937 (2), 19574402 (2), 19278620 (1) (see all 10)
    spastic paraplegia 80.8 1 18790819 (1)
    partial lipodystrophy 78.4 1 20097706 (1)
    lipodystrophy, familial partial 73.1 2 14516935 (1)
    insulin resistance 68.2 6 15908053 (1), 19438831 (1), 17633104 (1), 19026526 (1) (see all 5)
    hypertriglyceridemia 64.7 1 17633104 (1)
    motor neuron disease 60.5 4 17633104 (1), 18585921 (1), 18790819 (1)
    neurodegeneration 28.5 1 14981520 (1)
    diabetes mellitus 24.3 1 19438831 (1)

    GeneTests: BSCL2
    GeneReviews: BSCL2
    Genetic Association Database (GAD): BSCL2
    Human Genome Epidemiology (HuGE) Navigator: BSCL2 (2 documents)

    Export disorders for BSCL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BSCL2 gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with BSCL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (PubMed id 14981520)1, 2, 3, 4, 9 Windpassinger C.... Wagner K. (Nat. Genet. 2004)
    2. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (PubMed id 11479539)1, 2, 3 Magre J.... Capeau J. (Nat. Genet. 2001)
    3. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. (PubMed id 18458148)1, 2, 9 Payne V.A.... Rochford J.J. (Diabetes 2008)
    4. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (PubMed id 19278620)1, 2, 9 Boutet E.... Magre J. (Biochimie 2009)
    5. Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (PubMed id 18585921)1, 2, 9 Ito D.... Suzuki N. (Neurobiol. Dis. 2008)
    6. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PubMed id 17420921)1, 4 DeLuca G.C....Ebers G.C. (J. Neurol. 2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. (PubMed id 18093937)1, 9 Szymanski K.M....Goodman J.M. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    10. The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (PubMed id 19574402)1, 9 Chen W....Chan L. (Endocrinology 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26580 HGNC: 15832 AceView: BSCL2andDKFZp762N1910 Ensembl:ENSG00000168000 euGenes: HUgn26580
    ECgene: BSCL2 H-InvDB: BSCL2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BSCL2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BSCL2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BSCL2 gene:
    Search GeneIP for patents involving BSCL2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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