Details for: BSCL2

Gene ID: 26580

Symbol: BSCL2

Ensembl ID: ENSG00000168000

Description: BSCL2 lipid droplet biogenesis associated, seipin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 90.7775
    Cell Significance Index: -14.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 56.2207
    Cell Significance Index: -14.2600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 31.2856
    Cell Significance Index: -12.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 29.0444
    Cell Significance Index: -14.9400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 13.2182
    Cell Significance Index: -12.6200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.6063
    Cell Significance Index: -14.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.8627
    Cell Significance Index: -24.1500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6391
    Cell Significance Index: -14.3600
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 2.2855
    Cell Significance Index: 14.1400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.9784
    Cell Significance Index: 396.8700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.8917
    Cell Significance Index: 17.4200
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.7356
    Cell Significance Index: 13.1100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.5812
    Cell Significance Index: 36.5300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.5585
    Cell Significance Index: 296.6000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1405
    Cell Significance Index: 409.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.8398
    Cell Significance Index: 51.6200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7429
    Cell Significance Index: 133.9300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7273
    Cell Significance Index: 79.1100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6599
    Cell Significance Index: 81.1400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6491
    Cell Significance Index: 33.8100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5422
    Cell Significance Index: 69.5100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.5362
    Cell Significance Index: 12.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5092
    Cell Significance Index: 50.3800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4993
    Cell Significance Index: 345.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4949
    Cell Significance Index: 21.8900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.4810
    Cell Significance Index: 6.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4661
    Cell Significance Index: 17.6500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4261
    Cell Significance Index: 384.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3752
    Cell Significance Index: 25.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3155
    Cell Significance Index: 51.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3092
    Cell Significance Index: 8.9100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.3037
    Cell Significance Index: 4.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2794
    Cell Significance Index: 6.9900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2522
    Cell Significance Index: 14.1500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2268
    Cell Significance Index: 10.2800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2042
    Cell Significance Index: 2.3200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1095
    Cell Significance Index: 8.4100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0890
    Cell Significance Index: 2.5500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0719
    Cell Significance Index: 1.5800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0573
    Cell Significance Index: 6.7600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0547
    Cell Significance Index: 2.7700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0475
    Cell Significance Index: 1.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0424
    Cell Significance Index: 1.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0224
    Cell Significance Index: 1.4100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.0115
    Cell Significance Index: 0.1200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0088
    Cell Significance Index: 0.1100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0082
    Cell Significance Index: 0.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0081
    Cell Significance Index: 4.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0076
    Cell Significance Index: -14.3400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0077
    Cell Significance Index: -14.2500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0078
    Cell Significance Index: -5.7900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0092
    Cell Significance Index: -14.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0103
    Cell Significance Index: -0.2200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0173
    Cell Significance Index: -13.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0179
    Cell Significance Index: -13.1500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0198
    Cell Significance Index: -11.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0208
    Cell Significance Index: -12.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0217
    Cell Significance Index: -2.9900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0217
    Cell Significance Index: -0.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0221
    Cell Significance Index: -14.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0304
    Cell Significance Index: -13.8000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0315
    Cell Significance Index: -0.8400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0364
    Cell Significance Index: -16.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0389
    Cell Significance Index: -6.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0401
    Cell Significance Index: -4.1000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0437
    Cell Significance Index: -12.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0632
    Cell Significance Index: -13.3200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0715
    Cell Significance Index: -1.8800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0759
    Cell Significance Index: -8.8500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0884
    Cell Significance Index: -1.8900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0913
    Cell Significance Index: -13.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0958
    Cell Significance Index: -10.9700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0962
    Cell Significance Index: -5.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0999
    Cell Significance Index: -12.9000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1118
    Cell Significance Index: -3.6600
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1185
    Cell Significance Index: -1.5200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1187
    Cell Significance Index: -2.5200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1208
    Cell Significance Index: -3.8700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1252
    Cell Significance Index: -1.5800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1312
    Cell Significance Index: -2.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1330
    Cell Significance Index: -6.2000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1340
    Cell Significance Index: -2.6900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1409
    Cell Significance Index: -7.3200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1421
    Cell Significance Index: -10.5900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1543
    Cell Significance Index: -2.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1543
    Cell Significance Index: -8.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1570
    Cell Significance Index: -7.3800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1684
    Cell Significance Index: -3.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1772
    Cell Significance Index: -14.0400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1778
    Cell Significance Index: -3.0800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1821
    Cell Significance Index: -5.8000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1884
    Cell Significance Index: -4.0700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1888
    Cell Significance Index: -3.9400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2044
    Cell Significance Index: -13.1900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2075
    Cell Significance Index: -5.5600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2617
    Cell Significance Index: -10.7200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2822
    Cell Significance Index: -7.0400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2850
    Cell Significance Index: -3.5400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2863
    Cell Significance Index: -10.0300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2992
    Cell Significance Index: -21.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** BSCL2 is a 124-kilodalton protein that belongs to the lipocalin family of proteins. It is highly expressed in cells that require lipid storage and metabolism, such as adipocytes, neurons, and epithelial cells. BSCL2 is characterized by its ability to bind lipids, including phospholipids and triglycerides, and regulate their storage and release. The protein's structure consists of a beta-sheet domain and a helical domain, which are essential for its lipid-binding properties. **Pathways and Functions:** BSCL2 is involved in several key pathways, including: 1. **Lipid droplet biogenesis:** BSCL2 is essential for the formation and organization of lipid droplets in adipocytes, neurons, and epithelial cells. 2. **Fat cell differentiation:** BSCL2 regulates the differentiation of adipocytes by controlling lipid storage and release. 3. **Lipid catabolic process:** BSCL2 inhibits lipid catabolic processes, such as lipolysis, by regulating the activity of lipases. 4. **Negative regulation of lipid catabolic process:** BSCL2 acts as a negative regulator of lipid catabolic processes, preventing excessive lipid breakdown. 5. **Phospholipid binding:** BSCL2 binds phospholipids, which are essential for maintaining cellular membrane structure and function. **Clinical Significance:** The dysregulation of BSCL2 has been linked to various diseases, including: 1. **Metabolic disorders:** BSCL2 mutations have been associated with metabolic disorders, such as obesity, insulin resistance, and type 2 diabetes. 2. **Neurodegenerative conditions:** BSCL2 mutations have been linked to neurodegenerative conditions, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 3. **Cancer:** BSCL2 has been implicated in cancer development and progression, particularly in breast and lung cancer. 4. **Atherosclerosis:** BSCL2 has been shown to play a role in atherosclerosis, a cardiovascular disease characterized by lipid accumulation in the arterial walls. In conclusion, BSCL2 is a critical regulator of lipid metabolism and storage, and its dysregulation has far-reaching consequences for human health. Further research is needed to fully elucidate the mechanisms by which BSCL2 regulates lipid metabolism and to explore its therapeutic potential in various diseases.

Genular Protein ID: 2016275786

Symbol: BSCL2_HUMAN

Name: Seipin

UniProtKB Accession Codes:

Q96G97 G3XAE4 Q567S1 Q96SV1 Q9BSQ0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 CarbonylDB 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 10 EMDB 1 Ensembl 7 ExpressionAtlas 1 GO 10 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 3 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11479539

Title: Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

PubMed ID: 11479539

DOI: 10.1038/ng585

PubMed ID: 14981520

Title: Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PubMed ID: 14981520

DOI: 10.1038/ng1313

PubMed ID: 16574104

Title: Membrane topology of the human seipin protein.

PubMed ID: 16574104

DOI: 10.1016/j.febslet.2006.03.040

PubMed ID: 18458148

Title: The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.

PubMed ID: 18458148

DOI: 10.2337/db08-0184

PubMed ID: 18585921

Title: Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

PubMed ID: 18585921

DOI: 10.1016/j.nbd.2008.05.004

PubMed ID: 19278620

Title: Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.

PubMed ID: 19278620

DOI: 10.1016/j.biochi.2009.01.011

PubMed ID: 21533227

Title: Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation.

PubMed ID: 21533227

DOI: 10.1371/journal.pgen.1001364

PubMed ID: 23564749

Title: A new seipin-associated neurodegenerative syndrome.

PubMed ID: 23564749

DOI: 10.1136/jmedgenet-2013-101525

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 27564575

Title: Seipin is required for converting nascent to mature lipid droplets.

PubMed ID: 27564575

DOI: 10.7554/elife.16582

PubMed ID: 30970241

Title: The ER-Localized Protein DFCP1 Modulates ER-Lipid Droplet Contact Formation.

PubMed ID: 30970241

DOI: 10.1016/j.celrep.2019.03.025

PubMed ID: 31708432

Title: LDAF1 and Seipin Form a Lipid Droplet Assembly Complex.

PubMed ID: 31708432

DOI: 10.1016/j.devcel.2019.10.006

PubMed ID: 31178403

Title: Seipin Facilitates Triglyceride Flow to Lipid Droplet and Counteracts Droplet Ripening via Endoplasmic Reticulum Contact.

PubMed ID: 31178403

DOI: 10.1016/j.devcel.2019.05.016

PubMed ID: 17663003

Title: Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

PubMed ID: 17663003

DOI: 10.1016/j.jns.2007.06.047

PubMed ID: 24604904

Title: Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PubMed ID: 24604904

DOI: 10.1136/jnnp-2013-306740

PubMed ID: 27879284

Title: Seipin regulates ER-lipid droplet contacts and cargo delivery.

PubMed ID: 27879284

DOI: 10.15252/embj.201695170

PubMed ID: 30901948

Title: Promethin Is a Conserved Seipin Partner Protein.

PubMed ID: 30901948

DOI: 10.3390/cells8030268

PubMed ID: 30293840

Title: Human SEIPIN Binds Anionic Phospholipids.

PubMed ID: 30293840

DOI: 10.1016/j.devcel.2018.09.010

Sequence Information:

  • Length: 398
  • Mass: 44392
  • Checksum: 9FB1B37E72493DB9
  • Sequence:
    • MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV 
SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN 
QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE 
VELYADYREN SYVPTTGAII EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA 
SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE 
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG SWEDAALLTE 
ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.