Protein Summary
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
- ENST00000278893
- ENSP00000278893
- ENSG00000168000
- ENST00000360796
- ENSP00000354032
- ENST00000403550
- ENSP00000385561
- ENST00000407022
- ENSP00000384080
- ENST00000421906
- ENSP00000413209
- HMN5
- PELD
- SPG17
- GNG3LG
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
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (125)
TSPAN5
Novelty: 0.08879443
p_int: 0.976312979
p_ni: 0.023687021
Score: 0.195
Data Source: BioPlex,STRINGDB
HDGFL3
Family: Epigenetic
Novelty: 0.14292821
p_int: 0.974118161
p_ni: 0.025224273
p_wrong: 0.000657566
Data Source: BioPlex
GABRA6
Family: IC
Novelty: 0.02894664
p_int: 0.961369116
p_ni: 0.038630884
Score: 0.183
Data Source: BioPlex,STRINGDB
GABRG2
Family: IC
Novelty: 0.00819163
p_int: 0.960329754
p_ni: 0.039670246
Score: 0.192
Data Source: BioPlex,STRINGDB
CD47
Novelty: 0.00129086
p_int: 0.952525962
p_ni: 0.046945616
p_wrong: 0.000528423
Score: 0.516
Data Source: BioPlex,STRINGDB
ZDHHC17
Family: Enzyme
Novelty: 0.03288707
p_int: 0.947102415
p_ni: 0.052897585
Data Source: BioPlex
Nearest Tclin Targets
Pathways (9)
WikiPathways (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)
Gene Ontology Terms (7)
Components (1)
Processes (6)
GO Term | Evidence | Assigned by | ||
---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (16)
Items per page:
1 – 5 of 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 | |||||
Items per page:
1 – 5 of 16
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
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
Related Publications
Text Mined References (81)
GeneRif Annotations (64)
Items per page:
0 of 0
PMID | Year | Title |
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