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Tbio
BSCL2
Seipin

Protein Summary
Description
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. 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 HNRNP ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000278893
  • ENSP00000278893
  • ENSG00000168000
  • ENST00000360796
  • ENSP00000354032
  • ENST00000403550
  • ENSP00000385561
  • ENST00000407022
  • ENSP00000384080
  • ENST00000421906
  • ENSP00000413209

Symbol
  • HMN5
  • PELD
  • SPG17
  • GNG3LG
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.97
kinase perturbation
0.88
phenotype
0.84
transcription factor
0.74
cellular component
0.73


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 246.35   (req: < 5)
Gene RIFs: 64   (req: <= 3)
Antibodies: 161   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 246.35   (req: >= 5)
Gene RIFs: 64   (req: > 3)
Antibodies: 161   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (125)
DNAJC13
Tbio
Novelty:  0.03251995
p_int:  0.992879725
p_ni:  0.007120275
Data Source:  BioPlex
TMEM159
Tdark
Novelty:  0.22237677
p_int:  0.984955903
p_ni:  0.015044098
Data Source:  BioPlex
TSPAN5
Tbio
Novelty:  0.08879443
p_int:  0.976312979
p_ni:  0.023687021
Score:  0.195
Data Source:  BioPlex,STRINGDB
GABRE
Tclin
Family:  IC
Novelty:  0.03814541
p_int:  0.974338837
p_ni:  0.025661163
Data Source:  BioPlex
HDGFL3
Tbio
Family:  Epigenetic
Novelty:  0.14292821
p_int:  0.974118161
p_ni:  0.025224273
p_wrong:  0.000657566
Data Source:  BioPlex
TMEM25
Tdark
Novelty:  0.35505784
p_int:  0.968855452
p_ni:  0.031144548
Data Source:  BioPlex
GABRA6
Tclin
Family:  IC
Novelty:  0.02894664
p_int:  0.961369116
p_ni:  0.038630884
Score:  0.183
Data Source:  BioPlex,STRINGDB
GABRG2
Tclin
Family:  IC
Novelty:  0.00819163
p_int:  0.960329754
p_ni:  0.039670246
Score:  0.192
Data Source:  BioPlex,STRINGDB
CD47
Tchem
Novelty:  0.00129086
p_int:  0.952525962
p_ni:  0.046945616
p_wrong:  0.000528423
Score:  0.516
Data Source:  BioPlex,STRINGDB
ZDHHC17
Tbio
Family:  Enzyme
Novelty:  0.03288707
p_int:  0.947102415
p_ni:  0.052897585
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (9)
Find Similar Targets
Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
WikiPathways
Adipogenesis
WikiPathways
Adipogenesis
WikiPathways
ESC Pluripotency Pathways
WikiPathways
ncRNAs involved in Wnt signaling in hepatocellular carcinoma
WikiPathways
Wnt Signaling
Name
Explore in Pharos
Explore in Source
Adipogenesis
Adipogenesis
ESC Pluripotency Pathways
ncRNAs involved in Wnt signaling in hepatocellular carcinoma
Wnt Signaling
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (16)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
waist-hip ratio
1
5
5
90.1
BMI-adjusted waist-hip ratio
2
6
6
90
forced expiratory volume
1
1
1
78.3
vital capacity
1
1
1
73.6
waist circumference
1
2
2
71.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
waist-hip ratio
5
90.1
BMI-adjusted waist-hip ratio
6
90
forced expiratory volume
1
78.3
vital capacity
1
73.6
waist circumference
2
71.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
BSCL2, seipin lipid droplet biogenesis associated
VGNC:49040
100609080
Mouse
MGI:1298392
14705
Rat
RGD:1308135
361722
Dog
BSCL2, seipin lipid droplet biogenesis associated
VGNC:38538
476054
Horse
BSCL2, seipin lipid droplet biogenesis associated
VGNC:15901
100063764
Species
Name
OMA
EggNOG
Inparanoid
Chimp
BSCL2, seipin lipid droplet biogenesis associated
Mouse
Rat
Dog
BSCL2, seipin lipid droplet biogenesis associated
Horse
BSCL2, seipin lipid droplet biogenesis associated
Publication Statistics
PubMed Score 246.35
PubMed score by year
PubTator Score 211.74
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title