HCSGD entry for BSCL2
1. General information
| Official gene symbol | BSCL2 |
|---|---|
| Entrez ID | 26580 |
| Gene full name | Berardinelli-Seip congenital lipodystrophy 2 (seipin) |
| Other gene symbols | GNG3LG HMN5 SPG17 |
| Links to Entrez Gene | Links to Entrez Gene |
2. Neighbors in the network
This gene isn't in Literature mining network.
3. Gene ontology annotation
GO ID | GO term | Evidence | Category |
|---|---|---|---|
| GO:0003674 | Molecular_function | ND | molecular_function |
| GO:0008219 | Cell death | IEA | biological_process |
| GO:0016042 | Lipid catabolic process | IEA | biological_process |
| GO:0019915 | Lipid storage | IMP | biological_process |
| GO:0030176 | Integral component of endoplasmic reticulum membrane | IDA | cellular_component |
| GO:0034389 | Lipid particle organization | IMP | biological_process |
| GO:0045444 | Fat cell differentiation | IEA ISS | biological_process |
| GO:0050995 | Negative regulation of lipid catabolic process | IEA ISS | biological_process |
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4. Expression levels in datasets
- Meta-analysis result
| p-value up | p-value down | FDR up | FDR down |
|---|---|---|---|
| 0.0527736104 | 0.9967122298 | 0.5025707220 | 1.0000000000 |
- Individual experiment result
( "-" represent NA in the specific microarray platform )
( "-" represent NA in the specific microarray platform )
| Data source | Up or down | Log fold change |
|---|---|---|
| GSE11954 | - | - |
| GSE13712_SHEAR | - | - |
| GSE13712_STATIC | - | - |
| GSE19018 | - | - |
| GSE19899_A1 | - | - |
| GSE19899_A2 | - | - |
| PubMed_21979375_A1 | - | - |
| PubMed_21979375_A2 | - | - |
| GSE35957 | - | - |
| GSE36640 | - | - |
| GSE54402 | - | - |
| GSE9593 | - | - |
| GSE43922 | - | - |
| GSE24585 | - | - |
| GSE37065 | - | - |
| GSE28863_A1 | Up | 0.5221956948 |
| GSE28863_A2 | Up | 0.3851796264 |
| GSE28863_A3 | Down | -0.2719317285 |
| GSE28863_A4 | Up | 0.1701373780 |
| GSE48662 | Up | 0.3592776478 |
5. Regulation relationships with compounds/drugs/microRNAs
- Compounds
Not regulated by compounds
- Drugs
Not regulated by drugs
- MicroRNAs
- mirTarBase
No target information from mirTarBase
- mirRecord
No target information from mirRecord
6. Text-mining results about the gene
Gene occurances in abstracts of cellular senescence-associated articles: 1 abstracts the gene occurs.
PubMed ID of the article | Sentenece the gene occurs |
|---|---|
| 27391332 | Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis |
| 27391332 | OBJECTIVE: PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c |
| 27391332 | 985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin) |
| 27391332 | Also, the role of aberrant seipin isoform on adipogenesis was studied in adipose-derived human mesenchymal stem cells |
| 27391332 | The expression of the different BSCL2 transcripts was measured by qPCR |
| 27391332 | Adipose-derived human mesenchymal stem cells were differentiated to a fat lineage using StemPRO adipogenesis kit, and the expression of BSCL2 transcripts and several adipogenesis-related genes was measured by qPCR |
| 27391332 | RESULTS: the treatment of preadipocytes with unsaturated fatty acids significantly reduced the expression of the BSCL2 transcript without exon 7 by 34 to 63% |
| 27391332 | Finally, during adipocyte differentiation of adipose-derived human mesenchymal stem cells, the expression of adipogenic genes (PPARG, LPIN1, and LPL) increased significantly over 14 days, and noteworthy is that the BSCL2 transcript without exon 7 was differentially expressed by 332 to 723% when compared to day 0, suggesting an underlying role in adipogenesis |
| 27391332 | CONCLUSIONS: our results suggest that Celia seipin is probably playing an underestimated role in adipocyte maturation, but not in senescence, and its expression can be modified by exogenous factors as fatty acids |
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