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

  • BSCL2 Lipid Droplet Biogenesis Associated, Seipin 2 3 5
  • Seipin 2 3 4
  • Bernardinelli-Seip Congenital Lipodystrophy Type 2 Protein 3 4
  • Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) 2 3
  • BSCL2, Seipin Lipid Droplet Biogenesis Associated 2 3
  • Spastic Paraplegia 17 (Silver Syndrome) 2
  • GNG3LG 3
  • SPG17 3
  • BSCL2 5
  • HMN5 3
  • PELD 3

External Ids for BSCL2 Gene

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

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 (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 Glucose / Energy Metabolism and Adipogenesis.

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).

Gene Wiki entry for BSCL2 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J062704 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 632.8 +1.9 1856 6.1 BRCA1 SP1 CREB1 TEAD4 PRDM10 ZNF629 REST RFX1 SIX5 IKZF1 BSCL2 GNG3 TTC9C AHNAK HNRNPUL2-BSCL2
GH11J062687 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 600.4 +20.3 20345 4.2 ZNF629 IKZF1 MTA2 POLR2A PATZ1 ZNF600 CEBPB ZBTB10 ZBTB48 FOS LRRN4CL UBXN1 BSCL2 TTC9C GANAB lnc-UQCC3-2 HNRNPUL2-BSCL2
GH11J062790 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 37.1 -81.8 -81805 2.9 PRDM10 TFE3 LEF1 POLR2A BACH1 LARP7 GABPA PKNOX1 RBFOX2 RXRB TMEM223 MN297054 MIR6514 MIR6748 lnc-TMEM223-1 piR-55414 BSCL2 SNHG1 NXF1 CSKMT
GH11J062572 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 29.1 +134.4 134359 7.4 BRCA1 SP1 HNRNPL CREB1 REST RFX1 IKZF1 ZNF692 POLR2A BACH1 TUT1 EEF1G MN297052 lnc-TUT1-1-001 lnc-TUT1-1-002 BSCL2 NXF1 EML3 CSKMT GANAB
GH11J062620 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 30.4 +88.0 87989 3.3 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 ZNF512 NFKBIZ B3GAT3 BSCL2 NXF1 CSKMT GANAB SNHG1 EML3 INTS5 STX5 MTA2
- 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

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:
BSCL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BSCL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for BSCL2 Gene

    Alternative splice isoforms for BSCL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BSCL2 Gene

Post-translational modifications for BSCL2 Gene

  • Glycosylation at Asn88 and Asn242
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • BSCL2_HUMAN (1728)

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

Protein Domains for BSCL2 Gene

InterPro:
ProtoNet:

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

UniProtKB/Swiss-Prot:

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

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

Gene Ontology (GO) - Molecular Function for BSCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005543 phospholipid binding IDA 30293840
genes like me logo Genes that share ontologies with BSCL2: view
genes like me logo Genes that share phenotypes with BSCL2: view

Human Phenotype Ontology for BSCL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BSCL2 Gene

MGI Knock Outs for BSCL2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSCL2

Clone Products

  • Addgene plasmids 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BSCL2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
extracellular 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BSCL2 Gene

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 IDA 27879284
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BSCL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BSCL2 Gene

Pathways & Interactions for BSCL2 Gene

PathCards logo

SuperPathways for BSCL2 Gene

genes like me logo Genes that share pathways with BSCL2: view

Pathways by source for BSCL2 Gene

1 BioSystems pathway for BSCL2 Gene
1 Cell Signaling Technology pathway for BSCL2 Gene

Gene Ontology (GO) - Biological Process for BSCL2 Gene

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 --
genes like me logo Genes that share ontologies with BSCL2: view

No data available for SIGNOR curated interactions for BSCL2 Gene

Drugs & Compounds for BSCL2 Gene

(1) Drugs for BSCL2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BSCL2: view

Transcripts for BSCL2 Gene

mRNA/cDNA for BSCL2 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BSCL2

Clone Products

  • Addgene plasmids for BSCL2

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

Expression for BSCL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x7.2).

Protein differential expression in normal tissues from HIPED for BSCL2 Gene

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



Protein tissue co-expression partners for BSCL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BSCL2

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.

Evidence on tissue expression from TISSUES for BSCL2 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Kidney(3.3)
  • Intestine(2.7)
  • Muscle(2.7)
  • Lung(2.6)
  • Skin(2.6)
  • Pancreas(2.6)
  • Eye(2.5)
  • Adrenal gland(2.4)
  • Blood(2.3)
  • Thyroid gland(2.1)

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
genes like me logo Genes that share expression patterns 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 31
  • 100 (a)
OneToOne
LOC100609080 30
  • 99.35 (n)
Dog
(Canis familiaris)
Mammalia BSCL2 30 31
  • 90.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BSCL2 30 31
  • 89.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bscl2 30
  • 86.74 (n)
Mouse
(Mus musculus)
Mammalia Bscl2 30 17 31
  • 86.12 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BSCL2 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BSCL2 31
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2116 30
Zebrafish
(Danio rerio)
Actinopterygii bscl2 30 31
  • 56.02 (n)
OneToMany
bscl2l 31
  • 41 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Seipin 31
  • 32 (a)
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
639934 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,691,113(-) C/A MISSENSE_VARIANT,NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
641509 Uncertain Significance: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type 2 62,702,476(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643166 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,690,799(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
643607 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,702,494(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
643729 Uncertain Significance: Charcot-Marie-Tooth disease, type 2 62,705,361(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for BSCL2 Gene

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

Variant ID Type Subtype PubMed ID
nsv348 CNV deletion 18451855
nsv555174 CNV gain 21841781
nsv832182 CNV gain+loss 17160897

Variation tolerance for BSCL2 Gene

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

Human Gene Mutation Database (HGMD)
BSCL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BSCL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BSCL2 Gene

Disorders for BSCL2 Gene

MalaCards: The human disease database

(63) MalaCards diseases for BSCL2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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 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
Open Targets Platform
genes like me logo Genes that share disorders with BSCL2: view

No data available for Genatlas for BSCL2 Gene

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 (Nature genetics 2004) 2 3 4 23 41
  2. 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
  3. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. (PMID: 18458148) Payne VA … Rochford JJ (Diabetes 2008) 3 4 23
  4. Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. (PMID: 18585921) Ito D … Suzuki N (Neurobiology of disease 2008) 3 4 23
  5. 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 23

Products for BSCL2 Gene

Sources for BSCL2 Gene