Bscl2 (BSCL2 lipid droplet biogenesis associated, seipin) - Rat Genome Database

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Gene: Bscl2 (BSCL2 lipid droplet biogenesis associated, seipin) Mus musculus
Analyze
Symbol: Bscl2
Name: BSCL2 lipid droplet biogenesis associated, seipin
RGD ID: 1317733
MGI Page MGI
Description: Predicted to enable phospholipid binding activity. Involved in several processes, including fat cell differentiation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Acts upstream of or within several processes, including adipose tissue development; cytosolic lipolysis; and lipid droplet formation. Located in endoplasmic reticulum. Is expressed in brown fat; early conceptus; and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 13; congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2900097C17Rik; AI046355; Berardinelli-Seip congenital lipodystrophy 2 (seipin); Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin); Bernardinelli-Seip congenital lipodystrophy 2 homolog; bernardinelli-Seip congenital lipodystrophy type 2 protein homolog; G protein gamma 3 linked; Gng3; Gng3lg; s; seipin
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,814,831 - 8,826,047 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl198,814,831 - 8,826,047 (+)EnsemblGRCm39 Ensembl
GRCm38198,837,467 - 8,848,683 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,837,467 - 8,848,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv37198,911,957 - 8,923,173 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36198,906,548 - 8,915,712 (+)NCBIMGSCv36mm8
Celera198,597,278 - 8,608,494 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map195.76NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal adipose tissue development  (IAGP)
abnormal aerobic respiration  (IAGP)
abnormal bone structure  (IEA)
abnormal brown adipose tissue morphology  (IAGP)
abnormal cellular respiration  (IAGP)
abnormal epididymal fat pad morphology  (IAGP)
abnormal epididymis morphology  (IAGP)
abnormal fat cell differentiation  (IAGP)
abnormal fat pad morphology  (IAGP)
abnormal gait  (IEA)
abnormal glucose homeostasis  (IAGP)
abnormal hypodermis fat layer morphology  (IAGP)
abnormal infrapatellar fat pad morphology  (IAGP)
abnormal intestine morphology  (IAGP)
abnormal lipid homeostasis  (IAGP)
abnormal lipid metabolism  (IAGP)
abnormal male germ cell morphology  (IAGP)
abnormal phospholipid level  (IAGP)
abnormal small intestine morphology  (IAGP)
abnormal sperm flagellum morphology  (IAGP)
abnormal sperm head morphology  (IAGP)
abnormal spermatid morphology  (IAGP)
abnormal spermatogenesis  (IAGP)
abnormal spermiogenesis  (IAGP)
abnormal testis morphology  (IAGP)
abnormal triglyceride level  (IAGP)
abnormal white adipose tissue amount  (IAGP)
abnormal white adipose tissue morphology  (IAGP)
abnormal white adipose tissue physiology  (IAGP)
abnormal white fat cell differentation  (IAGP)
abnormal white fat cell morphology  (IAGP)
asthenozoospermia  (IAGP)
browned white adipose tissue morphology  (IAGP)
decreased body fat mass  (IAGP)
decreased body length  (IEA)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone marrow adipose tissue amount  (IAGP)
decreased bone mineral content  (IEA)
decreased brown adipose tissue amount  (IAGP)
decreased brown adipose tissue mass  (IAGP)
decreased carbon dioxide production  (IAGP)
decreased circulating adiponectin level  (IAGP)
decreased circulating free fatty acids level  (IAGP)
decreased circulating glucose level  (IAGP)
decreased circulating glycerol level  (IAGP)
decreased circulating leptin level  (IAGP)
decreased circulating triglyceride level  (IAGP)
decreased energy expenditure  (IAGP)
decreased erythrocyte cell number  (IEA)
decreased gonadal fat pad weight  (IAGP)
decreased inguinal fat pad weight  (IAGP)
decreased interscapular fat pad weight  (IAGP)
decreased locomotor activity  (IAGP)
decreased mesenteric fat pad weight  (IAGP)
decreased oxygen consumption  (IAGP)
decreased prepulse inhibition  (IEA)
decreased renal fat pad weight  (IAGP)
decreased respiratory quotient  (IAGP)
decreased retroperitoneal fat pad weight  (IAGP)
decreased subcutaneous adipose tissue amount  (IAGP)
decreased susceptibility to diet-induced obesity  (IAGP)
decreased total body fat amount  (IAGP)
decreased total retina thickness  (IEA)
decreased white adipose tissue amount  (IAGP)
decreased white fat cell number  (IAGP)
decreased white fat cell size  (IAGP)
enhanced lipolysis  (IAGP)
enlarged heart  (IAGP)
enlarged kidney  (IAGP)
enlarged liver  (IAGP)
enlarged spleen  (IAGP)
hepatic steatosis  (IAGP)
hyperglycemia  (IAGP)
impaired glucose tolerance  (IAGP)
improved glucose tolerance  (IEA)
increased body temperature  (IAGP)
increased brown adipose tissue amount  (IAGP)
increased circulating alanine transaminase level  (IEA)
increased circulating alkaline phosphatase level  (IEA)
increased circulating aspartate transaminase level  (IEA)
increased circulating calcium level  (IEA)
increased circulating cholesterol level  (IAGP)
increased circulating free fatty acids level  (IAGP)
increased circulating glucose level  (IAGP)
increased circulating glycerol level  (IAGP)
increased circulating HDL cholesterol level  (IAGP)
increased circulating insulin level  (IAGP)
increased circulating phosphate level  (IEA)
increased circulating serum albumin level  (IEA)
increased circulating total protein level  (IEA)
increased circulating triglyceride level  (IAGP)
increased cornea thickness  (IEA)
increased fasting circulating glucose level  (IEA)
increased fluid intake  (IEA)
increased food intake  (IAGP)
increased large unstained cell number  (IEA)
increased lean body mass  (IAGP)
increased liver triglyceride level  (IAGP)
increased liver weight  (IAGP)
increased mean corpuscular hemoglobin  (IEA)
increased mean corpuscular volume  (IEA)
increased monocyte cell number  (IEA)
increased neutrophil cell number  (IEA)
increased respiratory quotient  (IAGP)
insulin resistance  (IAGP)
lipodystrophy  (IAGP)
macrovesicular hepatic steatosis  (IAGP)
male infertility  (IAGP)
microvesicular hepatic steatosis  (IAGP)
oligozoospermia  (IAGP)
polyphagia  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, incomplete penetrance  (IAGP)
short tibia  (IEA)
teratozoospermia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis. Ebihara C, etal., Hum Mol Genet. 2015 Aug 1;24(15):4238-49. doi: 10.1093/hmg/ddv156. Epub 2015 May 1.
2. Localization, cDNA sequence and genomic organization of the rat seipin gene (Bscl2) and sequence analysis in inbred rat models of Type 2 diabetes mellitus. Kaisaki PJ, etal., Cytogenet Genome Res. 2002;98(1):71-4.
3. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
4. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Magre J, etal., Nat Genet. 2001 Aug;28(4):365-70.
5. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
6. MGDs mouse GO annotations MGD data from the GO Consortium
7. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. Mouse MP Annotation Import Pipeline RGD automated import pipeline
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Windpassinger C, etal., Hum Genet. 2003 Dec;114(1):99-109. Epub 2003 Sep 16.
Additional References at PubMed
PMID:9790771   PMID:10349636   PMID:10679242   PMID:10922068   PMID:11042159   PMID:11076861   PMID:12477932   PMID:12520002   PMID:14517553   PMID:14610273   PMID:15314181   PMID:15489334  
PMID:15782199   PMID:16141072   PMID:16141073   PMID:16964442   PMID:18093937   PMID:18585921   PMID:18799693   PMID:19574402   PMID:21308776   PMID:21551454   PMID:21737754   PMID:21873635  
PMID:21957196   PMID:22269949   PMID:23049863   PMID:23149622   PMID:23173741   PMID:23458123   PMID:23520483   PMID:23680914   PMID:23831461   PMID:24026679   PMID:24345054   PMID:24358199  
PMID:24622797   PMID:24651066   PMID:24778225   PMID:25093462   PMID:25195639   PMID:25462787   PMID:25866184   PMID:26181198   PMID:26269358   PMID:26272612   PMID:26398946   PMID:26621102  
PMID:26818512   PMID:26921684   PMID:27087445   PMID:27109482   PMID:27185876   PMID:27287266   PMID:27554469   PMID:27748422   PMID:27806294   PMID:28052965   PMID:29088395   PMID:29236949  
PMID:29428127   PMID:29459250   PMID:29670081   PMID:29688375   PMID:29738274   PMID:30457912   PMID:30521848   PMID:30552349   PMID:30871963   PMID:30910747   PMID:31097699   PMID:31185001  
PMID:31656096   PMID:31776610   PMID:31848133   PMID:31873720   PMID:31909301   PMID:32246911   PMID:33498782   PMID:33778025   PMID:34638939   PMID:35021082   PMID:35145475   PMID:35384404  
PMID:36332685   PMID:38355793   PMID:38386508   PMID:38703568  


Genomics

Comparative Map Data
Bscl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,814,831 - 8,826,047 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl198,814,831 - 8,826,047 (+)EnsemblGRCm39 Ensembl
GRCm38198,837,467 - 8,848,683 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,837,467 - 8,848,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv37198,911,957 - 8,923,173 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36198,906,548 - 8,915,712 (+)NCBIMGSCv36mm8
Celera198,597,278 - 8,608,494 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map195.76NCBI
BSCL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,690,262 - 62,709,537 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,689,289 - 62,709,845 (-)EnsemblGRCh38hg38GRCh38
GRCh371162,457,734 - 62,477,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,214,323 - 62,231,395 (-)NCBINCBI36Build 36hg18NCBI36
Build 341162,214,322 - 62,231,395NCBI
Celera1159,786,117 - 59,805,403 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,786,515 - 58,805,891 (-)NCBIHuRef
CHM1_11162,340,845 - 62,360,176 (-)NCBICHM1_1
T2T-CHM13v2.01162,679,681 - 62,698,954 (-)NCBIT2T-CHM13v2.0
Bscl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81215,160,764 - 215,172,540 (+)NCBIGRCr8
mRatBN7.21205,731,828 - 205,743,430 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1205,733,872 - 205,743,421 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1214,140,405 - 214,151,980 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01221,175,225 - 221,186,823 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01213,868,074 - 213,879,673 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01225,035,956 - 225,046,137 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,037,737 - 225,046,040 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01231,972,073 - 231,983,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41211,509,675 - 211,518,963 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11211,668,104 - 211,677,392 (+)NCBI
Celera1203,246,734 - 203,256,205 (+)NCBICelera
Cytogenetic Map1q43NCBI
Bscl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955599507,501 - 514,151 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955599505,725 - 514,225 (+)NCBIChiLan1.0ChiLan1.0
BSCL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2963,916,547 - 63,934,968 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11164,959,248 - 64,976,477 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01158,046,842 - 58,064,219 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11161,399,314 - 61,416,494 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,399,314 - 61,416,494 (-)Ensemblpanpan1.1panPan2
BSCL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11853,958,380 - 53,971,120 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1853,958,475 - 53,971,119 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1852,563,744 - 52,576,469 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01855,010,452 - 55,023,323 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1855,010,741 - 55,023,896 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11854,106,793 - 54,119,570 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01853,681,289 - 53,694,035 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01854,477,585 - 54,490,344 (+)NCBIUU_Cfam_GSD_1.0
Bscl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494710,453,683 - 10,463,113 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936581567,662 - 578,267 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936581567,426 - 576,859 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BSCL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,052,070 - 9,064,886 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,052,676 - 9,064,890 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,400,731 - 8,410,537 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BSCL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,198,033 - 11,216,709 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl111,200,356 - 11,216,622 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038108,534,784 - 108,555,013 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bscl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249261,190,072 - 1,196,076 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249261,189,990 - 1,197,220 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Bscl2
235 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1532
Count of miRNA genes:512
Interacting mature miRNAs:594
Transcripts:ENSMUST00000086058, ENSMUST00000159571, ENSMUST00000159634, ENSMUST00000159653, ENSMUST00000159770, ENSMUST00000160556, ENSMUST00000160897, ENSMUST00000162071, ENSMUST00000162580, ENSMUST00000171649
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300776Lfp3_mlong free running period 3 (mouse)Not determined19120328703Mouse
4142161Drinksac2_mdrink saccharin 2 (mouse)Not determined120695286Mouse
4142302Nstr1_mnerve sheath tumor resistance QTL 1 (mouse)Not determined19122371338Mouse
1301271Datd_mdopamine transporter density (mouse)Not determined19132340234Mouse
4142406Pbctlp1_mperipheral blood cytotoxic T lymphocyte percentage 1 (mouse)Not determined132875174Mouse
1300904Chab5_mcholesterol absorption 5 (mouse)Not determined19165376435653927Mouse
26884385Skwq14_mskull length QTL 14, 16 week (mouse)19325000035877400Mouse
1301800Faq10_mfluctuating asymmetry QTL 10 (mouse)Not determined19332321637323348Mouse
1300923Bits4_mbitterness sensitivity 4 (mouse)Not determined19332321637323348Mouse
1302126Skull26_mskull morphology 26 (mouse)Not determined19332321637323348Mouse
1300591Pas3_mpulmonary adenoma susceptibility 3 (mouse)Not determined19332321637323348Mouse
1357819Tgct2_mtesticular germ cell tumor 2 (mouse)Not determined19332855120539663Mouse
25394536Skmw86_mskeletal muscle weight 86, TA (mouse)1950648178957825Mouse
11039522Tbbr4_mTrypanosoma brucei brucei response 4 (mouse)19531332639313470Mouse

Markers in Region
Bscl2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38198,841,141 - 8,841,391UniSTSGRCm38
MGSCv37198,915,631 - 8,915,881UniSTSGRCm37
Celera198,600,952 - 8,601,202UniSTS
Cytogenetic Map19AUniSTS
cM Map194.0UniSTS
AI046355  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38198,848,504 - 8,848,594UniSTSGRCm38
MGSCv37198,922,994 - 8,923,084UniSTSGRCm37
Celera198,608,315 - 8,608,405UniSTS
Cytogenetic Map19AUniSTS
cM Map194.0UniSTS
Whitehead/MRC_RH1979.05UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_008144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006526691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030250754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB030196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK004634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK052341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK151606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK155753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK158901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK170183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK179965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK218983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX639369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY132247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK618551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSMUST00000086058   ⟹   ENSMUSP00000083224
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,817,883 - 8,826,030 (+)Ensembl
GRCm38.p6 Ensembl198,840,519 - 8,848,666 (+)Ensembl
RefSeq Acc Id: ENSMUST00000159571
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,816,737 - 8,826,031 (+)Ensembl
GRCm38.p6 Ensembl198,839,373 - 8,848,667 (+)Ensembl
RefSeq Acc Id: ENSMUST00000159634   ⟹   ENSMUSP00000125422
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,815,093 - 8,826,031 (+)Ensembl
GRCm38.p6 Ensembl198,837,729 - 8,848,667 (+)Ensembl
RefSeq Acc Id: ENSMUST00000159653   ⟹   ENSMUSP00000123920
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,823,554 - 8,825,987 (+)Ensembl
GRCm38.p6 Ensembl198,846,190 - 8,848,623 (+)Ensembl
RefSeq Acc Id: ENSMUST00000159770
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,815,051 - 8,817,607 (+)Ensembl
GRCm38.p6 Ensembl198,837,687 - 8,840,243 (+)Ensembl
RefSeq Acc Id: ENSMUST00000160556   ⟹   ENSMUSP00000123976
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,816,692 - 8,826,030 (+)Ensembl
GRCm38.p6 Ensembl198,839,328 - 8,848,666 (+)Ensembl
RefSeq Acc Id: ENSMUST00000160897   ⟹   ENSMUSP00000125250
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,816,754 - 8,826,002 (+)Ensembl
GRCm38.p6 Ensembl198,839,390 - 8,848,638 (+)Ensembl
RefSeq Acc Id: ENSMUST00000162071
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,817,899 - 8,826,030 (+)Ensembl
GRCm38.p6 Ensembl198,840,535 - 8,848,666 (+)Ensembl
RefSeq Acc Id: ENSMUST00000162580
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,817,899 - 8,826,030 (+)Ensembl
GRCm38.p6 Ensembl198,840,535 - 8,848,666 (+)Ensembl
RefSeq Acc Id: ENSMUST00000171649   ⟹   ENSMUSP00000127685
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl198,814,831 - 8,826,047 (+)Ensembl
GRCm38.p6 Ensembl198,837,467 - 8,848,683 (+)Ensembl
RefSeq Acc Id: NM_001136064   ⟹   NP_001129536
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39198,814,831 - 8,826,047 (+)NCBI
GRCm38198,837,467 - 8,848,683 (+)ENTREZGENE
MGSCv37198,911,957 - 8,923,173 (+)RGD
Celera198,597,278 - 8,608,494 (+)RGD
cM Map19 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001290823   ⟹   NP_001277752
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39198,817,867 - 8,826,047 (+)NCBI
GRCm38198,840,503 - 8,848,683 (+)NCBI
Celera198,597,278 - 8,608,494 (+)NCBI
Sequence:
RefSeq Acc Id: NM_008144   ⟹   NP_032170
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39198,816,692 - 8,826,047 (+)NCBI
GRCm38198,839,328 - 8,848,683 (+)NCBI
MGSCv37198,911,957 - 8,923,173 (+)RGD
Celera198,597,278 - 8,608,494 (+)RGD
cM Map19 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006526691   ⟹   XP_006526754
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39198,817,165 - 8,826,031 (+)NCBI
GRCm38198,840,560 - 8,848,667 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030250754   ⟹   XP_030106614
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39198,817,940 - 8,826,031 (+)NCBI
GRCm38198,840,576 - 8,848,667 (+)NCBI
Sequence:
RefSeq Acc Id: NP_032170   ⟸   NM_008144
- Peptide Label: isoform 1
- UniProtKB: A0A0R4J225 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129536   ⟸   NM_001136064
- Peptide Label: isoform 1
- UniProtKB: A0A0R4J225 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006526754   ⟸   XM_006526691
- Peptide Label: isoform X1
- UniProtKB: Q9JJC2 (UniProtKB/Swiss-Prot),   Q810B0 (UniProtKB/Swiss-Prot),   Q3U1S5 (UniProtKB/Swiss-Prot),   Q3TY41 (UniProtKB/Swiss-Prot),   Q9JMF1 (UniProtKB/Swiss-Prot),   Q9Z2E9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277752   ⟸   NM_001290823
- Peptide Label: isoform 2
- UniProtKB: Q9JJC2 (UniProtKB/Swiss-Prot),   Q810B0 (UniProtKB/Swiss-Prot),   Q3U1S5 (UniProtKB/Swiss-Prot),   Q3TY41 (UniProtKB/Swiss-Prot),   Q9JMF1 (UniProtKB/Swiss-Prot),   Q9Z2E9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_030106614   ⟸   XM_030250754
- Peptide Label: isoform X1
- UniProtKB: Q9Z2E9 (UniProtKB/Swiss-Prot),   Q9JJC2 (UniProtKB/Swiss-Prot),   Q810B0 (UniProtKB/Swiss-Prot),   Q3U1S5 (UniProtKB/Swiss-Prot),   Q3TY41 (UniProtKB/Swiss-Prot),   Q9JMF1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSMUSP00000083224   ⟸   ENSMUST00000086058
RefSeq Acc Id: ENSMUSP00000123920   ⟸   ENSMUST00000159653
RefSeq Acc Id: ENSMUSP00000125422   ⟸   ENSMUST00000159634
RefSeq Acc Id: ENSMUSP00000127685   ⟸   ENSMUST00000171649
RefSeq Acc Id: ENSMUSP00000125250   ⟸   ENSMUST00000160897
RefSeq Acc Id: ENSMUSP00000123976   ⟸   ENSMUST00000160556

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Z2E9-F1-model_v2 AlphaFold Q9Z2E9 1-383 view protein structure

Promoters
RGD ID:13678822
Promoter ID:EPDNEW_M23560
Type:initiation region
Name:Bscl2_3
Description:Mus musculus Berardinelli-Seip congenital lipodystrophy 2 , transcriptvariant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M23561  EPDNEW_M23563  EPDNEW_M23564  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38198,837,524 - 8,837,584EPDNEW
RGD ID:13678824
Promoter ID:EPDNEW_M23561
Type:initiation region
Name:Bscl2_4
Description:Mus musculus Berardinelli-Seip congenital lipodystrophy 2 , transcriptvariant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M23560  EPDNEW_M23563  EPDNEW_M23564  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38198,837,696 - 8,837,756EPDNEW
RGD ID:13678828
Promoter ID:EPDNEW_M23563
Type:initiation region
Name:Bscl2_2
Description:Mus musculus Berardinelli-Seip congenital lipodystrophy 2 , transcriptvariant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M23560  EPDNEW_M23561  EPDNEW_M23564  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38198,839,359 - 8,839,419EPDNEW
RGD ID:13678830
Promoter ID:EPDNEW_M23564
Type:multiple initiation site
Name:Bscl2_1
Description:Mus musculus Berardinelli-Seip congenital lipodystrophy 2 , transcriptvariant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M23560  EPDNEW_M23561  EPDNEW_M23563  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38198,840,537 - 8,840,597EPDNEW
RGD ID:6829872
Promoter ID:MM_KWN:26311
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_001136064
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36198,911,001 - 8,912,267 (+)MPROMDB
RGD ID:6830101
Promoter ID:MM_KWN:26312
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   Brain,   ES_Cell
Transcripts:NM_008144,   NM_010316
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36198,913,494 - 8,913,994 (-)MPROMDB
RGD ID:6829873
Promoter ID:MM_KWN:26313
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:UC008GNK.1,   UC008GNL.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36198,914,671 - 8,915,412 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1298392 AgrOrtholog
Ensembl Genes ENSMUSG00000003678
  ENSMUSG00000071657 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000086058 ENTREZGENE
  ENSMUST00000086058.13 UniProtKB/Swiss-Prot
  ENSMUST00000159634.8 UniProtKB/Swiss-Prot
  ENSMUST00000159653.2 UniProtKB/TrEMBL
  ENSMUST00000160556.8 UniProtKB/Swiss-Prot
  ENSMUST00000160897.8 UniProtKB/TrEMBL
  ENSMUST00000162071 ENTREZGENE
  ENSMUST00000171649 ENTREZGENE
  ENSMUST00000171649.8 UniProtKB/TrEMBL
InterPro Seipin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:14705 UniProtKB/Swiss-Prot
MGD MGI:1298392 ENTREZGENE
NCBI Gene 14705 ENTREZGENE
PANTHER PTHR21212 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEIPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Seipin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bscl2 PhenoGen
UniProt A0A0R4J225 ENTREZGENE, UniProtKB/TrEMBL
  BSCL2_MOUSE UniProtKB/Swiss-Prot
  E0CXJ2_MOUSE UniProtKB/TrEMBL
  F6US45_MOUSE UniProtKB/TrEMBL
  Q3TY41 ENTREZGENE
  Q3U1S5 ENTREZGENE
  Q810B0 ENTREZGENE
  Q9JJC2 ENTREZGENE
  Q9JMF1 ENTREZGENE
  Q9Z2E9 ENTREZGENE
UniProt Secondary Q3TY41 UniProtKB/Swiss-Prot
  Q3U1S5 UniProtKB/Swiss-Prot
  Q810B0 UniProtKB/Swiss-Prot
  Q9JJC2 UniProtKB/Swiss-Prot
  Q9JMF1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-27 Bscl2  BSCL2 lipid droplet biogenesis associated, seipin  Bscl2  Berardinelli-Seip congenital lipodystrophy 2 (seipin)  Symbol and/or name change 5135510 APPROVED
2015-12-22 Bscl2  Berardinelli-Seip congenital lipodystrophy 2 (seipin)    Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)  Symbol and/or name change 5135510 APPROVED
2014-06-10 Bscl2  Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)    Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)  Symbol and/or name change 5135510 APPROVED