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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 tiss... See more...
Aliases for BSCL2 Gene
Aliases for BSCL2 Gene
External Ids for BSCL2 Gene
- HGNC: 15832
- NCBI Entrez Gene: 26580
- Ensembl: ENSG00000168000
- OMIM®: 606158
- UniProtKB/Swiss-Prot: Q96G97
Previous HGNC Symbols for BSCL2 Gene
- GNG3LG
- SPG17
Previous GeneCards Identifiers for BSCL2 Gene
- GC11M064970
- GC11M064034
- GC11M062708
- GC11M062233
- GC11M062214
- GC11M062457
- GC11M058786
- GC11M062696
- GC11M062699
- GC11M062952
- GC11M062983
- GC11M063016
- GC11M063080
- GC11M062721
- GC11M062732
- GC11M062745
- GC11M062754
- GC11M062779
- GC11M062808
- GC11M062823
- GC11M062842
- GC11M063442
Summaries 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 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) is a Protein Coding gene. Diseases associated with BSCL2 include Spastic Paraplegia 17, Autosomal Dominant and Encephalopathy, Progressive, With Or Without Lipodystrophy. Among its related pathways are Adipogenesis and Glucose / Energy Metabolism.
UniProtKB/Swiss-Prot Summary for BSCL2 Gene
-
Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:31708432, PubMed:30293840). In association with TMEM159/LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (PubMed:31178403, PubMed:27879284). Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840). Plays an important role in the differentiation and development of adipocytes (By similarity).
Additional gene information for BSCL2 Gene
- HGNC (15832)
- NCBI Entrez Gene (26580)
- Ensembl (ENSG00000168000)
- OMIM® (606158)
- UniProtKB/Swiss-Prot (Q96G97)
- Open Targets Platform(ENSG00000168000)
- Monarch Initiative
- Search for BSCL2 at DataMed
- Search for BSCL2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BSCL2 Gene
Genomics for BSCL2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BSCL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BSCL2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BSCL2
- Top Transcription factor binding sites by QIAGEN in the BSCL2 gene promoter:
-
- E2F-2
- E2F-3a
- E2F-4
- Max
Genomic Locations for BSCL2 Gene
Latest Assembly
- chr11:62,690,262-62,709,845
- (GRCh38/hg38)
- Size:
- 19,584 bases
- Orientation:
- Minus strand
Previous Assembly
- chr11:62,457,734-62,477,009
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 19,276 bases
- Orientation:
- Minus strand
- chr11:62,457,747-62,477,317
- (GRCh37/hg19 by Ensembl)
- Size:
- 19,571 bases
- Orientation:
- Minus strand
Genomic View for BSCL2 Gene
Genes around BSCL2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q12.3 by HGNC
- 11q12.3 by Entrez Gene
- 11q12.3 by Ensembl
BSCL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BSCL2 Gene
Proteins for BSCL2 Gene
-
Protein details for BSCL2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96G97-BSCL2_HUMAN
- Recommended name:
- Seipin
- Protein Accession:
- Q96G97
- G3XAE4
- Q567S1
- Q96SV1
- Q9BSQ0
Protein attributes for BSCL2 Gene
- Size:
- 398 amino acids
- Molecular mass:
- 44392 Da
- Quaternary structure:
-
- [Isoform 1]: Undecamer (an oligomer having eleven subunits) (PubMed:30293840). Oligomerization is important for its function in lipid droplet formation (PubMed:30293840). Interacts with TMEM159/LDAF1 to form an oligomeric complex (PubMed:31708432, PubMed:30901948). Interacts with RAB18 (PubMed:30970241). Interacts with ZFYVE1 in a RAB18-dependent manner (PubMed:30970241).
- [Isoform 3]: Interacts with TMEM159/LDAF1 to form an oligomeric complex.
Protein Expression for BSCL2 Gene
Post-translational modifications for BSCL2 Gene
Other Protein References for BSCL2 Gene
- ENSEMBL proteins:
-
- ENSP00000405265
- ENSP00000354032
- ENSP00000385332
- ENSP00000505838
- ENSP00000278893
- ENSP00000384258
- ENSP00000385561
- ENSP00000384080
- ENSP00000301781
- ENSP00000413209
- ENSP00000413340
- ENSP00000436026
- ENSP00000433888
- ENSP00000437044
- ENSP00000434149
- ENSP00000435831
- ENSP00000431782
- ENSP00000393728
- ENSP00000435500
- ENSP00000436991
- Q96G97.158
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for BSCL2
- Novus Biologicals Antibodies for BSCL2
-
Abcam antibodies for BSCL2
- Invitrogen Antibodies for BSCL2 (AFLGC-BSCL2)
-
Biorbyt antibodies for BSCL2
-
Custom Antibody ServicesProSci Antibodies for BSCL2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for BSCL2
- Origene Custom Protein Services for BSCL2
- antibodies-online: Show 9 available BSCL2 Proteins ranked by validation data
- Compare Top BSCL2 Proteins
-
Quality Products:
-
Abcam proteins for BSCL2
Assay products for research
- antibodies-online: Show 7 available BSCL2 Elisa Kits ranked by validation data
- Compare Top BSCL2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for BSCL2 Gene
Domains & Families for BSCL2 Gene
Gene Families for BSCL2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for BSCL2 Gene
- GenScript: Design optimal peptide antigens:
-
- Truncated seipin (B1PWS6_HUMAN)
- Bernardinelli-Seip congenital lipodystrophy type 2 protein (BSCL2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96G97- Family:
-
- Belongs to the seipin family.
Function for BSCL2 Gene
Molecular function for BSCL2 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:31708432, PubMed:30293840). In association with TMEM159/LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (PubMed:31178403, PubMed:27879284). Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840). Plays an important role in the differentiation and development of adipocytes (By similarity).
Phenotypes From GWAS Catalog for BSCL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0005543 | phospholipid binding | IDA | 30293840 |
Phenotypes for BSCL2 Gene
- MGI mutant phenotypes for BSCL2:
-
inferred from 8 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- integument phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for BSCL2:
Animal Models for BSCL2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BSCL2 - Starting at $85 >
- * BSCL2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BSCL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BSCL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BSCL2
miRNA for BSCL2 Gene
- miRTarBase miRNAs that target BSCL2
-
- hsa-miR-6858-5p (MIRT480636)
- hsa-miR-4689 (MIRT480637)
- hsa-miR-1294 (MIRT480638)
- hsa-miR-4316 (MIRT480639)
- hsa-miR-346 (MIRT480640)
- hsa-miR-6739-5p (MIRT480641)
- hsa-miR-6733-5p (MIRT480642)
- hsa-miR-3153 (MIRT480643)
- hsa-miR-4668-5p (MIRT480644)
- hsa-miR-4294 (MIRT480645)
- hsa-miR-1287-5p (MIRT480646)
- hsa-miR-3135b (MIRT480647)
- hsa-miR-4784 (MIRT480648)
- hsa-miR-5702 (MIRT480649)
- hsa-miR-3150b-3p (MIRT480650)
- hsa-miR-6128 (MIRT480651)
- hsa-miR-18a-3p (MIRT480652)
- hsa-miR-324-3p (MIRT480653)
- hsa-miR-1913 (MIRT480654)
- hsa-miR-3934-5p (MIRT480655)
- hsa-miR-764 (MIRT480656)
- hsa-miR-125a-3p (MIRT480657)
- hsa-miR-8066 (MIRT480658)
- hsa-miR-512-3p (MIRT480659)
- hsa-miR-520e (MIRT480660)
- hsa-miR-520d-3p (MIRT480661)
- hsa-miR-520c-3p (MIRT480662)
- hsa-miR-520b (MIRT480663)
- hsa-miR-520a-3p (MIRT480664)
- hsa-miR-373-3p (MIRT480665)
- hsa-miR-372-3p (MIRT480666)
- hsa-miR-302e (MIRT480667)
- hsa-miR-302d-3p (MIRT480668)
- hsa-miR-302c-3p (MIRT480669)
- hsa-miR-302b-3p (MIRT480670)
- hsa-miR-302a-3p (MIRT480671)
- hsa-miR-93-5p (MIRT480672)
- hsa-miR-526b-3p (MIRT480673)
- hsa-miR-519d-3p (MIRT480674)
- hsa-miR-20b-5p (MIRT480675)
- hsa-miR-20a-5p (MIRT480676)
- hsa-miR-17-5p (MIRT480677)
- hsa-miR-106b-5p (MIRT480678)
- hsa-miR-106a-5p (MIRT480679)
- hsa-miR-1-3p (MIRT480680)
- hsa-miR-206 (MIRT480681)
- hsa-miR-613 (MIRT480682)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BSCL2
- Browse OriGene Inhibitory RNA Products For BSCL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSCL2
Clone products for research
- Applied Biological Materials (abm): Clones for BSCL2 - Starting at $45 >
- * BSCL2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG205984
- MG207064
- MR205984
- MR205984L3
- MR205984L4
- MR207064
- MR207064L3
- MR207064L4
- MR229624
- RC203625
- RC203625L1
- RC203625L2
- RC203625L3
- RC203625L4
- RC225781
- RC225781L3
- RC225781L4
- RC225782
- RC225782L1
- RC225782L2
- RC225782L3
- RC225782L4
- RG203625
- RG225781
- RG225782
- RR209399
- RR209399L3
- RR209399L4
- MR205984L3V
- MR205984L4V
- MR207064L3V
- MR207064L4V
- RC203625L1V
- RC203625L2V
- RC203625L3V
- RC203625L4V
- RC225781L3V
- RC225781L4V
- RC225782L1V
- RC225782L2V
- RC225782L3V
- RC225782L4V
- RR209399L3V
- RR209399L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BSCL2
- Addgene plasmids for BSCL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BSCL2
Cell Lines for research
-
Horizon Cell Lines for BSCL2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BSCL2 Gene
Localization for BSCL2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BSCL2 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein. Lipid droplet. Note=Localizes at endoplasmic reticulum-lipid droplets (ER-LD) contact sites. {ECO:0000269 PubMed:27879284}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| extracellular | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA,IDA | 27879284 |
| GO:0005811 | lipid droplet | IEA,IDA | 27879284 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BSCL2 Gene
Pathways & Interactions for BSCL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose / Energy Metabolism | ||
| 2 | Adipogenesis | ||
Pathways by source for BSCL2 Gene
1 BioSystems pathway for BSCL2 Gene
1 Cell Signaling Technology pathway for BSCL2 Gene
Interacting Proteins for BSCL2 Gene
Selected Interacting proteins:
Q96G97-BSCL2_HUMAN
ENSP00000354032
for BSCL2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BSCL2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0016042 | lipid catabolic process | IEA | -- |
| GO:0019915 | lipid storage | IEA,IMP | 19278620 |
| GO:0034389 | lipid droplet organization | IMP | 19278620 |
| GO:0045444 | fat cell differentiation | ISS | -- |
No data available for SIGNOR curated interactions for BSCL2 Gene
Transcripts for BSCL2 Gene
mRNA/cDNA for BSCL2 Gene
- 5 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000278893 1364 nts (view in UCSC)
- ENST00000301781 1712 nts (view in UCSC)
- ENST00000360796 1710 nts (view in UCSC)
- ENST00000403098 326 nts (view in UCSC)
- ENST00000403550 1693 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BSCL2 - Starting at $85 >
- * BSCL2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BSCL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BSCL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BSCL2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BSCL2
- Browse OriGene Inhibitory RNA Products For BSCL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSCL2
Clone products for research
- Applied Biological Materials (abm): Clones for BSCL2 - Starting at $45 >
- * BSCL2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG205984
- MG207064
- MR205984
- MR205984L3
- MR205984L4
- MR207064
- MR207064L3
- MR207064L4
- MR229624
- RC203625
- RC203625L1
- RC203625L2
- RC203625L3
- RC203625L4
- RC225781
- RC225781L3
- RC225781L4
- RC225782
- RC225782L1
- RC225782L2
- RC225782L3
- RC225782L4
- RG203625
- RG225781
- RG225782
- RR209399
- RR209399L3
- RR209399L4
- MR205984L3V
- MR205984L4V
- MR207064L3V
- MR207064L4V
- RC203625L1V
- RC203625L2V
- RC203625L3V
- RC203625L4V
- RC225781L3V
- RC225781L4V
- RC225782L1V
- RC225782L2V
- RC225782L3V
- RC225782L4V
- RR209399L3V
- RR209399L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BSCL2
- Addgene plasmids for BSCL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BSCL2
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: |
| 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: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: |
Relevant External Links for BSCL2 Gene
- GeneLoc Exon Structure for
- BSCL2
Expression for BSCL2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Amnion (Extraembryonic Tissues)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for BSCL2 Gene
This gene is overexpressed in Testis (x7.2).
This gene is overexpressed in Nasal epithelium (61.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BSCL2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BSCL2
SOURCE GeneReport for Unigene cluster for BSCL2 Gene:
Hs.533709mRNA Expression by UniProt/SwissProt for BSCL2 Gene:
Q96G97-BSCL2_HUMAN
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.
Evidence on tissue expression from TISSUES for BSCL2 Gene
- Nervous system(5)
- Liver(4.4)
- Kidney(3.2)
- Intestine(2.6)
- Muscle(2.5)
- Pancreas(2.5)
- Eye(2.4)
- Skin(2.4)
- Adrenal gland(2.4)
- Lung(2.2)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BSCL2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- eye
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- pituitary gland
- salivary gland
- skull
- tooth
Thorax:
- breast
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- duodenum
- intestine
- kidney
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- testicle
- uterus
- vagina
- vas deferens
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for BSCL2
-
OriGene qPCR primer pairs and template standards for BSCL2
Gene Expression Assays for research
Orthologs for BSCL2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BSCL2 31 |
|
OneToOne | |
| LOC100609080 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | BSCL2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BSCL2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bscl2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Bscl2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BSCL2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BSCL2 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2116 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bscl2 30 31 |
|
OneToMany | |
| bscl2l 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Seipin 31 |
|
OneToOne |
- Species where no ortholog for BSCL2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for BSCL2 Gene
- ENSEMBL:
- Gene Tree for BSCL2 (if available)
- TreeFam:
- Gene Tree for BSCL2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BSCL2: view image
Paralogs for BSCL2 Gene
No data available for Paralogs for BSCL2 Gene
Variants for BSCL2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BSCL2 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 4538 | Pathogenic: Congenital generalized lipodystrophy type 2 | 62,694,567(-) |
C/T NM_001122955.4(BSCL2):c.630+1G>A |
SPLICE_DONOR | |
| 835390 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 62,690,380(-) |
C/T NM_032667.6(BSCL2):c.1184G>A (p.Cys395Tyr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
| 840037 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 62,705,369(-) |
G/C NM_032667.6(BSCL2):c.144C>G (p.Leu48=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 840979 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 62,691,114(-) |
G/A NM_032667.6(BSCL2):c.841C>T (p.Arg281Trp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| 844412 | Likely Pathogenic: Charcot-Marie-Tooth disease, type 2 | 62,702,467(-) |
C/T NM_032667.6(BSCL2):c.294+1G>A |
SPLICE_DONOR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
48.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.33;
41.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BSCL2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BSCL2 Gene
Disorders for BSCL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 17, autosomal dominant |
|
|
| encephalopathy, progressive, with or without lipodystrophy |
|
|
| lipodystrophy, congenital generalized, type 2 |
|
|
| neuronopathy, distal hereditary motor, type vc |
|
|
| neuronopathy, distal hereditary motor, type va |
|
|
Search BSCL2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BSCL2_HUMAN- 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. {ECO:0000269 PubMed:11479539, ECO:0000269 PubMed:27879284, ECO:0000269 PubMed:30901948}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:14981520, ECO:0000269 PubMed:17663003, ECO:0000269 PubMed:18585921, ECO:0000269 PubMed:24604904}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:14981520, ECO:0000269 PubMed:17663003}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Encephalopathy, progressive, with or without lipodystrophy (PELD) [MIM:615924]: A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. {ECO:0000269 PubMed:23564749}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for BSCL2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for BSCL2 Gene
Publications for BSCL2 Gene
- Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (PMID: 14981520) Windpassinger C … Wagner K (Nature genetics 2004) 2 3 4 23 41 74
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (PMID: 11479539) Magré J … BSCL Working Group (Nature genetics 2001) 2 3 4 74
- A new seipin-associated neurodegenerative syndrome. (PMID: 23564749) Guillén-Navarro E … Araújo-Vilar D (Journal of medical genetics 2013) 3 4 74
- Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (PMID: 19278620) Boutet E … Magré J (Biochimie 2009) 3 4 23
- The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. (PMID: 18458148) Payne VA … Rochford JJ (Diabetes 2008) 3 4 23
ExternalLinks
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Sources for BSCL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
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- (122) ENCODE
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- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (148) RNAcentral
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- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (172) GENCODE
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- (177) MirGeneDB