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 HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

Uniprot Accession IDs

• Q96G97
• G3XAE4
• Q567S1
• Q96SV1
• Q9BSQ0

Gene Name

• BSCL2

Ensembl ID

• ENST00000278893
• ENSP00000278893
• ENSG00000168000
• ENST00000360796
• ENSP00000354032
• ENST00000403550
• ENSP00000385561
• ENST00000407022
• ENSP00000384080
• ENST00000421906
• ENSP00000413209

Symbol

• HMN5
• PELD
• SPG17
• GNG3LG

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: 257.53   (req: < 5)

Gene RIFs: 83   (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: 257.53   (req: >= 5)

Gene RIFs: 83   (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