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Aliases for BSCL2 Gene

Aliases for BSCL2 Gene

  • Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) 2 3
  • Bernardinelli-Seip Congenital Lipodystrophy Type 2 Protein 3 4
  • SPG17 3 6
  • HMN5 3 6
  • Spastic Paraplegia 17 (Silver Syndrome) 2
  • Seipin 3
  • GNG3LG 3
  • PELD 3

External Ids for BSCL2 Gene

Previous Symbols for BSCL2 Gene

  • GNG3LG
  • SPG17

Summaries for BSCL2 Gene

Entrez Gene Summary for BSCL2 Gene

  • This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

GeneCards Summary for BSCL2 Gene

BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)) is a Protein Coding gene. Diseases associated with BSCL2 include spastic paraplegia 17 and bscl2-related neurologic disorders/seipinopathy. Among its related pathways are Adipogenesis.

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.

Gene Wiki entry for BSCL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BSCL2 Gene

Genomics for BSCL2 Gene

Genomic Location for BSCL2 Gene

Start:
62,690,262 bp from pter
End:
62,709,845 bp from pter
Size:
19,584 bases
Orientation:
Minus strand

Genomic View for BSCL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BSCL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BSCL2 Gene

Regulatory Elements 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
    Secondary Accessions:
    • G3XAE4
    • Q567S1
    • Q96SV1
    • Q9BSQ0

    Protein attributes for BSCL2 Gene

    Size:
    398 amino acids
    Molecular mass:
    44392 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BSCL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BSCL2 Gene

Proteomics data for BSCL2 Gene at MOPED

Post-translational modifications for BSCL2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn88 and Asn242

No data available for DME Specific Peptides for BSCL2 Gene

Domains for BSCL2 Gene

Protein Domains for BSCL2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

BSCL2_HUMAN
Family:
  • Belongs to the seipin family.:
    • Q96G97
genes like me logo Genes that share domains with BSCL2: view

No data available for Gene Families for BSCL2 Gene

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.

Gene Ontology (GO) - Molecular Function for BSCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BSCL2: view
genes like me logo Genes that share phenotypes with BSCL2: view

Animal Models for BSCL2 Gene

MGI Knock Outs for BSCL2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BSCL2 Gene COMPARTMENTS Subcellular localization image for BSCL2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BSCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane IDA 14981520
genes like me logo Genes that share ontologies with BSCL2: view

Pathways for BSCL2 Gene

SuperPathways for BSCL2 Gene

Superpath Contained pathways
1 Adipogenesis
genes like me logo Genes that share pathways with BSCL2: view

Pathways by source for BSCL2 Gene

1 BioSystems pathway for BSCL2 Gene

Gene Ontology (GO) - Biological Process for BSCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0016042 lipid catabolic process IEA --
GO:0019915 lipid storage IMP 19278620
GO:0034389 lipid particle organization IMP 19278620
GO:0045444 fat cell differentiation ISS --
genes like me logo Genes that share ontologies with BSCL2: view

Compounds for BSCL2 Gene

(1) Novoseek inferred chemical compound relationships for BSCL2 Gene

Compound -log(P) Hits PubMed IDs
silver 59 5
genes like me logo Genes that share compounds with BSCL2: view

Transcripts for BSCL2 Gene

Unigene Clusters for BSCL2 Gene

Berardinelli-Seip congenital lipodystrophy 2 (seipin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BSCL2 Gene

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:
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
ECgene alternative splicing isoforms for
BSCL2

Expression for BSCL2 Gene

mRNA expression in normal human tissues for BSCL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BSCL2 Gene

This gene is overexpressed in Testis (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BSCL2 Gene

SOURCE GeneReport for Unigene cluster for BSCL2 Gene Hs.533709

mRNA 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.
genes like me logo Genes that share expressions with BSCL2: view

Orthologs for BSCL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BSCL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BSCL2 37
  • 100 (a)
OneToOne
LOC100609080 36
  • 99.35 (n)
  • 99.78 (a)
cow
(Bos Taurus)
Mammalia BSCL2 36
  • 89.59 (n)
  • 88.83 (a)
BSCL2 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BSCL2 36
  • 90.48 (n)
  • 90.85 (a)
BSCL2 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bscl2 36
  • 86.12 (n)
  • 87.33 (a)
Bscl2 16
Bscl2 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BSCL2 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bscl2 36
  • 86.74 (n)
  • 91.25 (a)
lizard
(Anolis carolinensis)
Reptilia BSCL2 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2116 36
zebrafish
(Danio rerio)
Actinopterygii bscl2 36
  • 56.02 (n)
  • 54.63 (a)
bscl2 37
  • 46 (a)
OneToMany
bscl2l 37
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Seipin 37
  • 32 (a)
OneToOne
Species with no ortholog for BSCL2:
  • 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)

Paralogs for BSCL2 Gene

No data available for Paralogs for BSCL2 Gene

Variants for BSCL2 Gene

Sequence variations from dbSNP and Humsavar for BSCL2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
VAR_022375 Neuronopathy, distal hereditary motor, 5A (HMN5A)
VAR_022375 Spastic paraplegia 17, autosomal dominant (SPG17)
VAR_022376 Neuronopathy, distal hereditary motor, 5A (HMN5A)
VAR_022376 Spastic paraplegia 17, autosomal dominant (SPG17)
VAR_022377 Congenital generalized lipodystrophy 2 (CGL2)

Structural Variations from Database of Genomic Variants (DGV) for BSCL2 Gene

Variant ID Type Subtype PubMed ID
nsv832182 CNV Gain+Loss 17160897
nsv897623 CNV Loss 21882294
nsv348 CNV Loss 18451855

Relevant External Links for BSCL2 Gene

HapMap Linkage Disequilibrium report
BSCL2
Human Gene Mutation Database (HGMD)
BSCL2
Locus Specific Mutation Databases (LSDB)
BSCL2

Disorders for BSCL2 Gene

(3) OMIM Diseases for BSCL2 Gene (606158)

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. 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}. 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.

(4) University of Copenhagen DISEASES for BSCL2 Gene

(10) Novoseek inferred disease relationships for BSCL2 Gene

Disease -log(P) Hits PubMed IDs
lipodystrophy, congenital generalized 98.6 23
lipodystrophy 85.2 14
spastic paraplegia 80.8 1
partial lipodystrophy 78.4 1
lipodystrophy, familial partial 73.1 1

Relevant External Links for BSCL2

GeneTests
BSCL2
GeneReviews
BSCL2
Genetic Association Database (GAD)
BSCL2
Human Genome Epidemiology (HuGE) Navigator
BSCL2
genes like me logo Genes that share disorders with BSCL2: view

Publications for BSCL2 Gene

  1. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (PMID: 14981520) Windpassinger C. … Wagner K. (Nat. Genet. 2004) 2 3 4 23 49
  2. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. (PMID: 18458148) Payne V.A. … Rochford J.J. (Diabetes 2008) 3 4 23
  3. Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (PMID: 18585921) Ito D. … Suzuki N. (Neurobiol. Dis. 2008) 3 4 23
  4. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (PMID: 19278620) Boutet E. … Magre J. (Biochimie 2009) 3 4 23
  5. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (PMID: 11479539) Magre J. … Capeau J. (Nat. Genet. 2001) 2 3 4

Products for BSCL2 Gene

Sources for BSCL2 Gene

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