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

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Gene: Bscl2 (BSCL2 lipid droplet biogenesis associated, seipin) Rattus norvegicus
Analyze
Symbol: Bscl2
Name: BSCL2 lipid droplet biogenesis associated, seipin
RGD ID: 1308135
Description: Predicted to enable phospholipid binding activity. Predicted to be involved in several processes, including lipid droplet formation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Predicted to act upstream of or within several processes, including adipose tissue development; cytosolic lipolysis; and spermatid differentiation. Predicted to be located in endoplasmic reticulum membrane and lipid droplet. Used to study azoospermia. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin); INTERACTS WITH (+)-schisandrin B; 4,4'-sulfonyldiphenol; 6-propyl-2-thiouracil.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy 2 homolog; Bernardinelli-Seip congenital lipodystrophy 2 homolog (human); bernardinelli-Seip congenital lipodystrophy type 2 protein homolog; BSCL2, seipin lipid droplet biogenesis associated; LOC361722; MGC109260; seipin
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: Bscl2m1Kyo  
Genetic Models: F344-Bscl2m1Kyo
Is Marker For: Strains:   F344-Bscl2m1Kyo  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Seipin deficiency alters brown adipose tissue thermogenesis and insulin sensitivity in a non-cell autonomous mode. Dollet L, etal., Sci Rep. 2016 Oct 17;6:35487. doi: 10.1038/srep35487.
2. 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.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
5. 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.
6. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Magre J, etal., Nat Genet. 2001 Aug;28(4):365-70.
7. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. GOA pipeline RGD automated data 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. Comprehensive gene review and curation RGD comprehensive gene curation
13. 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:8889548   PMID:12477932   PMID:14981520   PMID:15489334   PMID:18585921   PMID:19278620   PMID:21551454   PMID:22269949   PMID:23173741   PMID:23458123   PMID:24622797   PMID:24778225  
PMID:27564575   PMID:27879284   PMID:30293840   PMID:30901948   PMID:30970241   PMID:31178403   PMID:31708432   PMID:32705147   PMID:37897134  


Genomics

Comparative Map Data
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
(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
(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
(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
54 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:43
Count of miRNA genes:38
Interacting mature miRNAs:43
Transcripts:ENSRNOT00000065977
Prediction methods: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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
61341Bp26Blood pressure QTL 26arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1169537671214537671Rat
61376Bp42Blood pressure QTL 4223.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1197814409242814409Rat
619613Bp77Blood pressure QTL 770.01arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164747424209747424Rat
619613Bp77Blood pressure QTL 770.01arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1164747424209747424Rat
631214Bw61Body weight QTL613.40.0001intramuscular adipose amount (VT:0010044)intramuscular fat area (CMO:0001162)1173108781218108781Rat
70163Bw20Body weight QTL 205.1body mass (VT:0001259)body weight (CMO:0000012)1174133260219133260Rat
724531Uae5Urinary albumin excretion QTL 54urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)1150700142252085212Rat
724559Pancm1Pancreatic morphology QTL 17.1islet of Langerhans morphology trait (VT:0005215)pancreatic islet damage composite score (CMO:0001156)1181759564214537555Rat
724562Rends1Renal damage susceptibility QTL 10.05kidney glomerulus integrity trait (VT:0010546)index of glomerular damage (CMO:0001135)1169537671214537671Rat
737828Hcas3Hepatocarcinoma susceptibility QTL 34.9liver integrity trait (VT:0010547)liver tumorous lesion volume to total liver volume ratio (CMO:0001082)1144267353222987745Rat
1298084Thym4Thymus enlargement QTL 410.68thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1197814409242814409Rat
631658Cm7Cardiac mass QTL 75.320.0001aorta mass (VT:0002845)aorta weight (CMO:0000076)1196248093241248093Rat
737977Bp160Blood pressure QTL 1600.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1181133855226133855Rat
731168Bp154Blood pressure QTL 1543.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194642644214537671Rat
738032Hcas5Hepatocarcinoma susceptibility QTL 53.12liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1176426412257976495Rat
631838Niddm36Non-insulin dependent diabetes mellitus QTL 360.01insulin secretion trait (VT:0003564)calculated pancreatic islet insulin release measurement (CMO:0001217)1184550676229550676Rat
634312Bp143Blood pressure QTL 14330.0002arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1182623426219932796Rat
634313Niddm43Non-insulin dependent diabetes mellitus QTL 43blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1199050459259647894Rat
634321Hc1Hypercalciuria QTL 12.91urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1178810256240830002Rat
634338Hcar4Hepatocarcinoma resistance QTL 44.6liver integrity trait (VT:0010547)liver tumorous lesion number to liver area ratio (CMO:0001210)1193422268214537671Rat
1300145Rf7Renal function QTL 72.96urine creatinine amount (VT:0010540)urine creatinine level (CMO:0000125)1185145134221264292Rat
1331790Bp201Blood pressure QTL 2013.127arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1198211513225126682Rat
1354580Scort1Serum corticosterone level QTL 13.4blood corticosterone amount (VT:0005345)blood corticosterone level (CMO:0001172)1156677124256448636Rat
1302787Stl25Serum triglyceride level QTL 252.70.0073blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)1180359209210702199Rat
1357335Bw39Body weight QTL 393.3body mass (VT:0001259)body weight (CMO:0000012)1197814409242814409Rat
1354606Bp246Blood pressure QTL 2463.6arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1102813953218753816Rat
1354610Bw34Body weight QTL 344.1body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1354624Cm35Cardiac mass QTL355.7heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1177227632256448636Rat
1354646Kidm18Kidney mass QTL 185.7kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1151162512256448636Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
1354653Despr9Despair related QTL 90.00019locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)1167909849212909849Rat
1354661Bw33Body weight QTL 335.2body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1558658Bw59Body weight QTL 593.50.0003body mass (VT:0001259)body weight (CMO:0000012)1178784622223784622Rat
1549837Hcar15Hepatocarcinoma resistance QTL 150.05liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1153136852260522016Rat
1358191Ept10Estrogen-induced pituitary tumorigenesis QTL 103.8pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)1192825253243914732Rat
1358886Bp260Blood pressure QTL 2603.67arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1151162766225824951Rat
1358898Bp255Blood pressure QTL 2553.6arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1191019702246062233Rat
1549830Bss1Bone structure and strength QTL 14.8femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1172609619217609619Rat
1358292Cm37Cardiac mass QTL 376.20.00000081heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)1196248093241248093Rat
1358294Bw37Body weight QTL 3750.000011body mass (VT:0001259)body weight (CMO:0000012)1171310381216310381Rat
1582206Kidm33Kidney mass QTL 336.9kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1188377360224054420Rat
1641926Teswt2Testicular weight QTL 22.82testis mass (VT:1000644)both testes wet weight (CMO:0000175)1197697768238755659Rat
1598853Memor3Memory QTL 34.5exploratory behavior trait (VT:0010471)total horizontal distance resulting from voluntary locomotion in an experimental apparatus (CMO:0001443)1143506580212458660Rat
1600363Hc6Hypercalciuria QTL 62.7urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1203995416244113296Rat
1600374Mcs17Mammary carcinoma susceptibility QTL 173mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1197670404242670404Rat
1600380Niddm70Non-insulin dependent diabetes mellitus QTL 703.10.0008blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1176550523221550523Rat
1600388Niddm67Non-insulin dependent diabetes mellitus QTL 675.840.000004blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1600395Niddm69Non-insulin dependent diabetes mellitus QTL 694.140.0002blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1195804352257091168Rat
1600396Niddm68Non-insulin dependent diabetes mellitus QTL 684.970.0003blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1578759Uae30Urinary albumin excretion QTL 303.30.003urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1150700247252085048Rat
1578763Kidm29Kidney mass QTL 293.30.0001kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1179567751260522016Rat
1578778Pur4Proteinuria QTL 43.30.003urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)1150700247252085048Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
2292220Bp306Blood pressure QTL 3063.470.00087arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393243914901Rat
2292222Bp307Blood pressure QTL 3073.060.0014arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393213533942Rat
2293083Iddm25Insulin dependent diabetes mellitus QTL 254.18blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1181829673224569684Rat
2292218Kidm35Kidney mass QTL 35kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1199368955224569684Rat
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
2302378Insul11Insulin level QTL 113.25blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1144267353251128347Rat
2300161Bmd43Bone mineral density QTL 438.40.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1171629477216629477Rat
2300174Bmd42Bone mineral density QTL 428.40.0001lumbar vertebra mineral mass (VT:0010511)bone mineral density (CMO:0001226)1171629477216629477Rat
2300175Bmd40Bone mineral density QTL 4015.40.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)1201554356246554356Rat
2300187Bmd41Bone mineral density QTL 418.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1171629477216629477Rat
2293654Bss30Bone structure and strength QTL 3032.650.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)1171629477216629477Rat
2293655Bss36Bone structure and strength QTL 3610.660.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1201554356246554356Rat
2293673Bss27Bone structure and strength QTL 2718.630.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)1171629477216629477Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
2293677Bss41Bone structure and strength QTL 419.380.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra cross-sectional area (CMO:0001689)1171629477216629477Rat
2293689Bss47Bone structure and strength QTL 477.250.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra trabecular cross-sectional area (CMO:0001692)1171629477216629477Rat
2293693Bss22Bone structure and strength QTL 2233.520.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)1171629477216629477Rat
2293694Bss38Bone structure and strength QTL 387.050.0001femur strength trait (VT:0010010)femur stiffness (CMO:0001674)1201554356246554356Rat
2312420Pur17Proteinuria QTL 177.10.0001urine protein amount (VT:0005160)urine total protein excretion rate (CMO:0000756)1156677124218753816Rat
2312564Glom18Glomerulus QTL 182.40.003kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)1185356336231689108Rat
6903303Scl34Serum cholesterol QTL 342.50.0033blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)1180359209218108781Rat
8655655Arrd2Age-related retinal degeneration QTL 27.79retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1183970203243914901Rat
7794788Mcs32Mammary carcinoma susceptibility QTL 322.61mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)1115540693238914717Rat
7771612Cm80Cardiac mass QTL 808.4heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)1149448574221264292Rat
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118608292241799120Rat
8552891Epfw5Epididymal fat weight QTL 54.4epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)1193113876238113876Rat
7394701Uae46Urinary albumin excretion QTL 463.60.0056urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1201554356246554356Rat
8655855Arrd3Age-related retinal degeneration QTL 33.07lens clarity trait (VT:0001304)cataract incidence/prevalence measurement (CMO:0001585)1183970203243914901Rat
10059587Bw173Body weight QTL 1733.230.025body mass (VT:0001259)body weight (CMO:0000012)1202069611247069611Rat
10059590Kidm44Kidney mass QTL 443.420.025kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1191033875236033875Rat
10059600Bp378Blood pressure QTL 3783.080.05arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1176869060221869060Rat

Markers in Region
RH129317  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21205,732,176 - 205,732,348 (+)MAPPERmRatBN7.2
Rnor_6.01225,034,261 - 225,034,432NCBIRnor6.0
Rnor_5.01231,972,426 - 231,972,597UniSTSRnor5.0
RGSC_v3.41211,507,980 - 211,508,151UniSTSRGSC3.4
Celera1203,245,039 - 203,245,210UniSTS
RH 3.4 Map11510.5UniSTS
Cytogenetic Map1q43UniSTS
RH142166  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21205,732,412 - 205,732,609 (+)MAPPERmRatBN7.2
Rnor_6.01225,034,497 - 225,034,693NCBIRnor6.0
Rnor_5.01231,972,662 - 231,972,858UniSTSRnor5.0
RGSC_v3.41211,508,216 - 211,508,412UniSTSRGSC3.4
Celera1203,245,275 - 203,245,471UniSTS
RH 3.4 Map11510.5UniSTS
Cytogenetic Map1q43UniSTS
BG381397  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21205,734,426 - 205,734,537 (+)MAPPERmRatBN7.2
Rnor_6.01225,036,511 - 225,036,621NCBIRnor6.0
Rnor_5.01231,974,676 - 231,974,786UniSTSRnor5.0
RGSC_v3.41211,510,230 - 211,510,340UniSTSRGSC3.4
Celera1203,247,289 - 203,247,399UniSTS
RH 3.4 Map11510.5UniSTS
Cytogenetic Map1q43UniSTS
UniSTS:498224  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21205,735,581 - 205,735,832 (+)MAPPERmRatBN7.2
Rnor_6.01225,037,665 - 225,037,915NCBIRnor6.0
Rnor_5.01231,975,830 - 231,976,080UniSTSRnor5.0
RGSC_v3.41211,511,384 - 211,511,634UniSTSRGSC3.4
Celera1203,248,443 - 203,248,693UniSTS
Cytogenetic Map1q43UniSTS


Related Rat Strains
The following Strains have been annotated to Bscl2


Genetic Models
This gene Bscl2 is modified in the following models/strains:


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 35 57 41 19 41 1 4 74 35 41 11 1
Low 8 7 7 7
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000077959   ⟹   ENSRNOP00000069562
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1205,734,985 - 205,743,401 (+)Ensembl
Rnor_6.0 Ensembl1225,037,737 - 225,046,040 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000098204   ⟹   ENSRNOP00000095921
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1205,734,985 - 205,743,401 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000106351   ⟹   ENSRNOP00000077692
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1205,733,872 - 205,743,421 (+)Ensembl
RefSeq Acc Id: NM_001012171   ⟹   NP_001012171
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81215,160,943 - 215,172,540 (+)NCBI
mRatBN7.21205,731,828 - 205,743,430 (+)NCBI
Rnor_6.01225,035,956 - 225,046,137 (+)NCBI
Rnor_5.01231,972,073 - 231,983,764 (+)NCBI
RGSC_v3.41211,509,675 - 211,518,963 (+)RGD
Celera1203,246,734 - 203,256,205 (+)RGD
Sequence:
RefSeq Acc Id: XM_039084117   ⟹   XP_038940045
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81215,164,024 - 215,172,539 (+)NCBI
mRatBN7.21205,734,847 - 205,743,430 (+)NCBI
RefSeq Acc Id: XM_063268354   ⟹   XP_063124424
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81215,162,118 - 215,172,539 (+)NCBI
RefSeq Acc Id: XM_063268356   ⟹   XP_063124426
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81215,160,764 - 215,172,539 (+)NCBI
RefSeq Acc Id: NP_001012171   ⟸   NM_001012171
- UniProtKB: A0A8I5Y6M7 (UniProtKB/TrEMBL),   A6HZV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000069562   ⟸   ENSRNOT00000077959
RefSeq Acc Id: XP_038940045   ⟸   XM_039084117
- Peptide Label: isoform X1
- UniProtKB: Q5FVJ6 (UniProtKB/Swiss-Prot),   A6HZV5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000095921   ⟸   ENSRNOT00000098204
RefSeq Acc Id: ENSRNOP00000077692   ⟸   ENSRNOT00000106351
RefSeq Acc Id: XP_063124426   ⟸   XM_063268356
- Peptide Label: isoform X2
RefSeq Acc Id: XP_063124424   ⟸   XM_063268354
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5FVJ6-F1-model_v2 AlphaFold Q5FVJ6 1-377 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1308135 AgrOrtholog
BioCyc Gene G2FUF-56492 BioCyc
Ensembl Genes ENSRNOG00000052393 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000077959.2 UniProtKB/TrEMBL
  ENSRNOT00000098204.1 UniProtKB/Swiss-Prot
  ENSRNOT00000106351 ENTREZGENE
  ENSRNOT00000106351.1 UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7311394 IMAGE-MGC_LOAD
InterPro Seipin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:361722 UniProtKB/Swiss-Prot
MGC_CLONE MGC:109260 IMAGE-MGC_LOAD
NCBI Gene 361722 ENTREZGENE
PANTHER PTHR21212 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEIPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Seipin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Bscl2 PhenoGen
RatGTEx ENSRNOG00000052393 RatGTEx
UniProt A0A0G2JVP0_RAT UniProtKB/TrEMBL
  A0A8I5Y6M7 ENTREZGENE, UniProtKB/TrEMBL
  A6HZV3 ENTREZGENE, UniProtKB/TrEMBL
  A6HZV4_RAT UniProtKB/TrEMBL
  A6HZV5 ENTREZGENE, UniProtKB/TrEMBL
  A6HZV6_RAT UniProtKB/TrEMBL
  BSCL2_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-01 Bscl2  BSCL2, seipin lipid droplet biogenesis associated  Bscl2  Berardinelli-Seip congenital lipodystrophy 2 (seipin)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2012-01-06 Bscl2  Berardinelli-Seip congenital lipodystrophy 2 (seipin)  Bscl2  Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-03-30 Bscl2  Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)  Bscl2_predicted  Bernardinelli-Seip congenital lipodystrophy 2 homolog (predicted)  Symbol and name updated to reflect update of predicted to known gene 1331545 APPROVED
2005-01-12 Bscl2_predicted  Bernardinelli-Seip congenital lipodystrophy 2 homolog (predicted)      Symbol and Name status set to approved 70820 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_disease excluded as a candidate gene for a glucose intolerance QTL in the Goto-Kakizaki (GK) rat model 1600600