BSCL2 Gene
protein-coding GIFtS: 60
GCID: GC11M062457
|
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)(Previous name: spastic paraplegia 17 (Silver syndrome) )
(Previous symbols: GNG3LG, SPG17)
| |
Aliases
for BSCL2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)1 2 | | HMN52 5 | | SPG171 2 5 | | Spastic Paraplegia 17 (Silver Syndrome)1 | | GNG3LG1 2 | | Seipin1 | | Bernardinelli-Seip Congenital Lipodystrophy Type 2 Protein2 3 | | |
Export aliases for BSCL2 gene to outside databasesPrevious GC identifers: GC11M064970 GC11M064034 GC11M062708 GC11M062233 GC11M062214 GC11M058786 |
Summaries
for BSCL2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BSCL2:
This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmicreticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated withcongenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive diseasecharacterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcriptvariants encoding different isoforms have been found for this gene. Naturally occurring read-through transcriptionoccurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like2).(provided by RefSeq, Mar 2011)
UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97Function: Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in thecentral regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid dropletsmaintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopiclipid droplet formation in non-adipose tissues
Gene Wiki entry for BSCL2
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_167190.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BSCL2 gene promoter:
E2F-3a E2F-4 Max E2F-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for BSCL2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 11q13BSCL2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M062457: view genomic region
(about GC identifiers)
Start:
|
62,457,747 bp from pter |
End:
|
62,477,317 bp from pter |
Size:
|
19,571 bases |
Orientation:
|
minus strand |
|
Proteins
for BSCL2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97 (See
protein sequence)Recommended Name: Seipin Size: 398 amino acids; 44392 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: G3XAE4 Q567S1 Q96SV1 Q9BSQ0Alternative 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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96G97
BSCL2 Protein expression data from MOPED and PaxDb: About this image 
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
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030176 | integral to endoplasmic reticulum membrane |
IDA | 14981520 |
BSCL2 for ontologies About GeneDecksing
BSCL2 Antibody Products:
Assay Products for BSCL2: |
Protein
Domains /
Families
for BSCL2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BSCL2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96G97ProtoNet protein and cluster: Q96G97 UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97Similarity: Belongs to the seipin family |
Function
for BSCL2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97Function: Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in thecentral regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid dropletsmaintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopiclipid droplet formation in non-adipose tissues
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BSCL2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BSCL2 (see all 3)
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) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BSCL2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSCL2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSCL2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
BSCL2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for BSCL2:
Animal Models:
Mouse knock-outs for BSCL2: Bscl2tm1Lchan Bscl2tm1.2Gliu Bscl2tm1.1Lchan
14 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Bscl2):
BSCL2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for BSCL2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Adipogenesis | |
1  BioSystems Pathway for BSCL2
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BSCL2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/12 Interacting proteins for BSCL2 (Q96G972, 3 ENSP000003540324) via UniProtKB, MINT, STRING, and/or I2D (see all 12)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
BSCL2 for ontologies About GeneDecksing
|
Drugs & Compounds
for BSCL2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
BSCL2 for compounds About GeneDecksing
 Browse Tocris compounds for BSCL2
1 Novoseek chemical compound relationship for BSCL2 gene About this table
Search CenterWatch for drugs/clinical trials and news about BSCL2
|
Transcripts
for BSCL2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_03794918/28 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BSCL2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BSCL2 (see all 3)
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 |
Additional cDNA 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 24/34 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 24/779 AceView cDNA sequences (see all 779): BX461984 BE773582 AA339621 AA297155 AI039869 BM747112 CR599907 BC009866 BG106122 AW419357 AA742514 BE811359 AA027818 AA663652 CR613731 AI151434 BU161215 CD513871 BM763152 AI333693 CR617488 BE701738 AI471260 C15643
GeneLoc Exon Structure
5/18 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
|
Expression
for BSCL2 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BSCL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTGGGTGT
About this image
See BSCL2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BSCL2
SOURCE GeneReport for Unigene cluster: Hs.533709
UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97Tissue specificity: Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at proteinlevel). Highly expressed in brain, testis and adipose tissue
SABiosciences Custom PCR Arrays for BSCL2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BSCL2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BSCL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BSCL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BSCL2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSCL2 |
Orthologs
for BSCL2 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BSCL2 gene from 5/20 species (see all 20) 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 more1, 5 |
86.12(n)1
87.56(a)1 |
|
19 (5.76 cM)5
147051 NM_001136064.21 NP_001129536.11
88376875 |
lizard
(Anolis carolinensis) |
Reptilia |
BSCL26 |
-- |
66(a) |
1 ↔ 1 |
GL343928.1(834-7897) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.21162 |
Xenopus laevis transcribed sequence with strong similarity more |
83.67(n) |
|
BG486955.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
bscl21 |
Bernardinelli-Seip congenital lipodystrophy 2 (seipin) |
56.79(n)
54.49(a) |
|
567403 NM_001037396.1 NP_001032473.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Seipin6 |
Seipin |
29(a) |
1 ↔ 1 |
X(2513833-2516173) |
ENSEMBL Gene Tree for BSCL2 (if available)
TreeFam Gene Tree for BSCL2 (if available) |
Paralogs
for BSCL2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for BSCL2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BSCL2 (62457747 - 62477317 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BSCL2
1 CNV: 4749
Human Gene Mutation Database (HGMD): BSCL2
Locus Specific Mutation Databases (LSDB): BSCL2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BSCL2 |
|
Disorders
/ Diseases
for BSCL2 gene
(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
|
BSCL2 for disorders About GeneDecksing
OMIM gene information: 606158
OMIM disorders: 269700 270685 600794
UniProtKB/Swiss-Prot: BSCL2_HUMAN, Q96G97
Defects in BSCL2 are the cause of congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]. Congenitalgeneralized lipodystrophy is an autosomal recessive disorder characterized by a near absence of adipose tissue,extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes Defects in BSCL2 are the cause of spastic paraplegia type 17 (SPG17) [MIM:270685]; also known as Silverspastic paraplegia syndrome. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual,progressive weakness and spasticity of the lower limbs. SPG17 is characterized by prominent amyotrophy of the handmuscles, the presence of mild to severe pyramidal tract signs, and spastic paraplegia. SPG17 is a motor neuron diseaseoverlapping with distal spinal muscular atrophy type 5 Defects in BSCL2 are a cause of distal hereditary motor neuronopathy type 5A (HMN5A) [MIM:600794]; also knownas distal hereditary motor neuropathy type V (DSMAV). A disorder characterized by distal muscular atrophy mainlyaffecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneousgroup of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinalcord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distalmuscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting ofdistal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expandto the proximal muscles of the lower limbs and/or to the distal upper limbs
20/28  diseases for BSCL2 (see all 28): About MalaCardslipodystrophy congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy spastic paraplegia
spastic paraplegia 17 insulin resistance paraplegia distal hereditary motor neuropathy type v
distal hereditary motor neuropathy spasticity spinal muscular atrophy silver spastic paraplegia syndrome
acanthosis nigricans hereditary spastic paraplegia autosomal recessive disease mandibuloacral dysplasia
motor neuron disease corpus callosum muscular atrophy diabetes mellitus
4 diseases from the University of Copenhagen DISEASES database for BSCL2:Lipodystrophy Acanthosis nigricans Motor neuron disease Paraplegia 10 Novoseek 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
BSCL2-Related Neurologic Disorders/SeipinopathyBerardinelli-Seip Congenital Lipodystrophy
Genetic Association Database (GAD): BSCL2
Human Genome Epidemiology (HuGE) Navigator: BSCL2 (2 documents)
Export disorders for BSCL2 gene to outside databases
|
Publications
for BSCL2 gene (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 9 sources (see all 78):
(articles sorted by number of sources associating them with BSCL2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2004)
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (PubMed id 11479539)1, 2, 3 Magre J.... Capeau J. (2001)
- 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. (2008)
- Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (PubMed id 19278620)1, 2, 9 Boutet E....MagrAc J. (2009)
- Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (PubMed id 18585921)1, 2, 9 Ito D....Suzuki N. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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. (2004)
- 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. (2007)
- The human lipodystrophy gene product Berardinelli-Sei p congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiati on. (PubMed id 19574402)1, 9 Chen W....Chan L. (2009)
- Two Japanese infants with congenital generalized lipo dystrophy due to BSCL2 mutations. (PubMed id 19438831)1, 9 Nishiyama A....Matsuo M. (2009)
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External Searches for BSCL2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing BSCL2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing BSCL2 gene
(According to HUGE)
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| -- |
Specialized Databases showing BSCL2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for BSCL2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BSCL2 |
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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
|
Products
for BSCL2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for BSCL2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BSCL2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BSCL2 | | | OriGene Protein Over-expression Lysate for BSCL2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BSCL2 | | OriGene 3'-UTR Clone for BSCL2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BSCL2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BSCL2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for BSCL2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BSCL2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BSCL2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BSCL2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BSCL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BSCL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BSCL2 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BSCL2 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BSCL2 |
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