Aliases for BSCL2 Gene
Aliases for BSCL2 Gene
External Ids for BSCL2 Gene
- HGNC: 15832
- Entrez Gene: 26580
- Ensembl: ENSG00000168000
- OMIM: 606158
- UniProtKB: Q96G97
Previous HGNC Symbols for BSCL2 Gene
- GNG3LG
- SPG17
Previous GeneCards Identifiers for BSCL2 Gene
- GC11M064970
- GC11M064034
- GC11M062708
- GC11M062233
- GC11M062214
- GC11M062457
- GC11M058786
- GC11M062696
- GC11M062699
- GC11M062721
- GC11M062732
- GC11M062745
- GC11M062754
- GC11M062779
- GC11M062808
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, Seipin Lipid Droplet Biogenesis Associated) 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 for BSCL2 Gene
-
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.
Additional gene information for BSCL2 Gene
- Monarch Initiative
- Search for BSCL2 at DataMed
- Search for BSCL2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BSCL2 Gene
Genomics for BSCL2 Gene
GeneHancer (GH) Regulatory Elements for BSCL2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BSCL2 gene promoter:
-
- Max
- E2F-4
- E2F-3a
- E2F-2
Regulatory Element Products
Genomic Locations for BSCL2 Gene
Genomic Locations for BSCL2 Gene
- chr11:62,690,262-62,709,845
- (GRCh38/hg38)
- Size:
- 19,584 bases
- Orientation:
- Minus strand
- chr11:62,457,734-62,477,317
- (GRCh37/hg19)
- Size:
- 19,584 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 Entrez Gene
- 11q12.3 by HGNC
- 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:
- No Data Available
Protein Expression for BSCL2 Gene
Post-translational modifications for BSCL2 Gene
Other Protein References for BSCL2 Gene
- ENSEMBL proteins:
-
- ENSP00000301781
- ENSP00000436991
- ENSP00000413209
- ENSP00000385332
- ENSP00000436026
- ENSP00000434149
- ENSP00000435831
- ENSP00000431782
- ENSP00000413340
- ENSP00000435500
- ENSP00000437044
- ENSP00000433888
- ENSP00000385561
- ENSP00000278893
- ENSP00000384258
- ENSP00000405265
- ENSP00000384080
- ENSP00000354032
- ENSP00000393728
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for BSCL2 (Seipin/BSCL2)
-
Custom Antibody ServicesOriGene Antibodies for BSCL2
- Novus Biologicals Antibodies for BSCL2
-
Abcam antibodies for BSCL2
- Invitrogen Antibodies for BSCL2 (AFLGC-BSCL2)
- Search GeneTex for Antibodies for BSCL2
-
Biorbyt antibodies for BSCL2
-
Boster Bio Antibodies for BSCL2
Protein Products
-
OriGene Purified Proteins for BSCL2
- Search Origene for MassSpec and Protein Over-expression Lysates for BSCL2
- Origene Custom Protein Services for BSCL2
- antibodies-online: Search results for 9 available BSCL2 Proteins ranked by validation data
- Compare Top BSCL2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for BSCL2
-
Abcam proteins for BSCL2
Assay Products
- antibodies-online: Search results for 4 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:
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:
- 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.
Phenotypes From GWAS Catalog for BSCL2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for BSCL2 Gene
- MGI mutant phenotypes for BSCL2:
-
inferred from 5 alleles
- cardiovascular system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for BSCL2:
Animal Models for BSCL2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BSCL2
-
CRISPR Products
-
OriGene CRISPR knockouts for BSCL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BSCL2
- genomics-online: gRNA clones - Search results for 175 available BSCL2 gene related products
- Overview of 175 available BSCL2 gene related products
- Applied Biological Materials CRISPR for BSCL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BSCL2
- GenScript: Design CRISPR guide RNA sequences 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 175 available BSCL2 gene related products
- Overview of 175 available BSCL2 gene related products
Clone Products
-
OriGene ORF clones in human for BSCL2
- RC203625
- RC203625L1
- RC203625L2
- RC203625L3
- RC203625L4
- RC225781
- RC225781L1
- RC225781L2
- RC225781L3
- RC225781L4
- RC225782
- RC225782L1
- RC225782L2
- RC225782L3
- RC225782L4
- RG203625
- RG225781
- RG225782
- RC203625L1V
- RC203625L2V
- RC203625L3V
- RC203625L4V
- RC225781L1V
- RC225781L2V
- RC225781L3V
- RC225781L4V
- RC225782L1V
- RC225782L2V
- RC225782L3V
- RC225782L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BSCL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BSCL2
- Applied Biological Materials Clones for BSCL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| peroxisome | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030176 | integral component of endoplasmic reticulum membrane | IDA | 14981520 |
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 | IMP,IEA | 19278620 |
| GO:0034389 | lipid particle 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
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (779) Selected AceView cDNA sequences:
- (27) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000449636 545 bps (uc058cle.1)
- ENST00000405837 1984 bps (uc001nut.5)
- ENST00000470529 512 bps (uc058clg.1)
- ENST00000278893 1364 bps (uc009yoc.3)
- ENST00000360796 1683 bps (uc001nur.5)
Unigene Clusters for BSCL2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BSCL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BSCL2
- genomics-online: gRNA clones - Search results for 175 available BSCL2 gene related products
- Overview of 175 available BSCL2 gene related products
- Applied Biological Materials CRISPR for BSCL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BSCL2
- GenScript: Design CRISPR guide RNA sequences for BSCL2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 175 available BSCL2 gene related products
- Overview of 175 available BSCL2 gene related products
Clone Products
-
OriGene ORF clones in human for BSCL2
- RC203625
- RC203625L1
- RC203625L2
- RC203625L3
- RC203625L4
- RC225781
- RC225781L1
- RC225781L2
- RC225781L3
- RC225781L4
- RC225782
- RC225782L1
- RC225782L2
- RC225782L3
- RC225782L4
- RG203625
- RG225781
- RG225782
- RC203625L1V
- RC203625L2V
- RC203625L3V
- RC203625L4V
- RC225781L1V
- RC225781L2V
- RC225781L3V
- RC225781L4V
- RC225782L1V
- RC225782L2V
- RC225782L3V
- RC225782L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BSCL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BSCL2
- Applied Biological Materials Clones for BSCL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | ^ |
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| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of BSCL2 Gene:
BSCL2SOURCE 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(4.5)
- Kidney(2.6)
- Lung(2.2)
- Muscle(2.1)
- Eye(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
-
OriGene qPCR primer pairs for BSCL2
-
OriGene qPCR primer pairs and template standards for BSCL2
- genomics-online: primer clones - Search results for 175 available BSCL2 gene related products
- Overview of 175 available BSCL2 gene related products
Gene Expression Assay Products
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 34 |
|
OneToOne | |
| LOC100609080 33 |
|
||||
| dog (Canis familiaris) |
Mammalia | BSCL2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BSCL2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Bscl2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Bscl2 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BSCL2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BSCL2 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2116 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bscl2 34 33 |
|
OneToMany | |
| bscl2l 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Seipin 34 |
|
OneToOne |
- Species where no ortholog for BSCL2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1013079991 | pathogenic, Congenital generalized lipodystrophy type 2 | 62,692,475(-) | T/C | splice_acceptor_variant | |
| rs1057516190 | likely-pathogenic, Familial partial lipodystrophy 3 | 62,690,439(-) | G/T | 3_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1057517657 | pathogenic, Congenital generalized lipodystrophy type 2 | 62,705,371(-) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1057517658 | pathogenic, Congenital generalized lipodystrophy type 2 | 62,705,358(-) | AA/AAAA | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1057517659 | pathogenic, Congenital generalized lipodystrophy type 2 | 62,705,320(-) | G/TCC | coding_sequence_variant, frameshift, non_coding_transcript_variant |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BSCL2 Gene
Disorders for BSCL2 Gene
(18) MalaCards diseases for BSCL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| 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 va |
|
|
| distal hereditary motor neuropathy, type v |
|
|
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}. 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. {ECO:0000269 PubMed:14981520, ECO:0000269 PubMed:17663003, ECO:0000269 PubMed:18585921, ECO:0000269 PubMed:24604904}. 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. {ECO:0000269 PubMed:14981520, ECO:0000269 PubMed:17663003}. Note=The disease is caused by mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for BSCL2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
- 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 22 58
- Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (PMID: 18585921) Ito D … Suzuki N (Neurobiology of disease 2008) 3 4 22 58
- The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. (PMID: 18458148) Payne VA … Rochford JJ (Diabetes 2008) 3 4 22 58
- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. (PMID: 17663003) Rohkamm B … Auer-Grumbach M (Journal of the neurological sciences 2007) 3 4 22 58
Products for BSCL2 Gene
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Sources for BSCL2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
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- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt