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Gene ID: 26580 | BSCL2 Antibody Resource


BSCL2 Antibody Resource
Gene Full Name: 
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Uniprot: 
Q96G97
Protein Name: 
seipin
Nucleotide: 
NR_037948
Alias: 
HMN5;SPG17;GNG3LG;
Ensembl: 
ENSG00000168000
Location: 
11q13
HPRD: 
05858
NCBI Gene: 
26580
MIM: 
606158

Summary: 
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]
Function: 
Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis . 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.
Subcellular location: 
Endoplasmic reticulum membrane; Multi-pass membrane protein .
PTM: 
Glycoprotein;
Disease: 
Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Note: The disease is caused by mutations affecting the gene represented in this entry. Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. Note: The disease is caused by mutations affecting the gene represented in this entry. Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP50102_P050 BSCL2 antibody - C-terminal region (ARP50102_P050) Polyclonal Bovine, Dog, Horse, Human, Mouse, Rabbit, Rat WB 50ug $289 Details
Polyclonal Antibody OAAB00118 BSCL2 antibody - N-terminal region (OAAB00118) Human WB, IHC, ELISA 400ul $289 Details

Show all BSCL2 antibodies


Product Images
BSCL2 antibody - C-terminal region (ARP50102_P050) in Human U937 cells using Western Blot

Sample Type: Human U937

BSCL2 antibody - N-terminal region (OAAB00118) in Human Testis carcinoma cells using Immunohistochemistry

Sample Type: Human Testis carcinoma

BSCL2 antibody - N-terminal region (OAAB00118) in NCI-H460 cells using Western Blot

Sample Type: NCI-H460


BSCL2 Protocols

Publications

Related Gene Trend Categories

Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP50102 Bovine BSCL2 antibody; Bos taurus BSCL2 antibody Q2KJD5 86.0%
ARP50102 Bovine BSCL2 antibody; Bos taurus BSCL2 antibody Q5E9P6 86.0%
ARP50102 Cat BSCL2 antibody; Felis catus BSCL2 antibody M3WPC1 85.0%
ARP50102 Chimpanzee BSCL2 antibody; Pan troglodytes BSCL2 antibody K7CIU4 100.0%
ARP50102 Dog BSCL2 antibody; Canis familiaris BSCL2 antibody E2RGY4 86.0%
ARP50102 European domestic ferret BSCL2 antibody; Mustela putorius furo BSCL2 antibody M3YQK0 79.0%
ARP50102 Giant panda BSCL2 antibody; Ailuropoda melanoleuca BSCL2 antibody G1LIS1 86.0%
ARP50102 Horse BSCL2 antibody; Equus caballus BSCL2 antibody F7A3C7 92.0%
ARP50102 Human BSCL2 antibody; Homo sapiens BSCL2 antibody J3KQ12 100.0%
ARP50102 Human BSCL2 antibody; Homo sapiens BSCL2 antibody Q96G97-4 100.0%
ARP50102 Human BSCL2 antibody; Homo sapiens BSCL2 antibody Q96G97 100.0%
ARP50102 Mouse BSCL2 antibody; Mus musculus BSCL2 antibody Q9Z2E9 100.0%
ARP50102 Rabbit BSCL2 antibody; Oryctolagus cuniculus BSCL2 antibody G1U639 100.0%
ARP50102 Rat BSCL2 antibody; Rattus norvegicus BSCL2 antibody Q5FVJ6 100.0%
ARP50102 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody F6RV88 100.0%
ARP70550 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody F7CM55 100.0%
ARP70550 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody F7CMC3 100.0%
ARP50102 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody F7CMG4 100.0%
ARP50102 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody H9Z7P1 100.0%
ARP50102 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody I0FQT8 100.0%
ARP70549 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody F7CM55 79.0%
ARP70549 Rhesus macaque BSCL2 antibody; Macaca mulatta BSCL2 antibody F7CMC3 79.0%
ARP50102 Small-eared galago BSCL2 antibody; Otolemur garnettii BSCL2 antibody H0Y2E4 100.0%
ARP50102 Thirteen-lined ground squirrel BSCL2 antibody; Spermophilus tridecemlineatus BSCL2 antibody I3N6D7 100.0%
ARP50102 White-tufted-ear marmoset BSCL2 antibody; Callithrix jacchus BSCL2 antibody U3D801 100.0%
ARP50102 White-tufted-ear marmoset BSCL2 antibody; Callithrix jacchus BSCL2 antibody U3FEV7 100.0%

Tissue & Cell Line Gene Expression Data
Data SourceProbesetSampleAvgMeanMore Info
BioGPS Gene Atlas208906_at721_B_lymphoblasts22.550159.040Details
BioGPS Gene Atlas208906_atAdipocyte25.300159.040Details
BioGPS Gene Atlas208906_atAdrenalCortex25.950159.040Details
BioGPS Gene Atlas208906_atAdrenalgland32.250159.040Details
BioGPS Gene Atlas208906_atAmygdala331.700159.040Details
BioGPS Gene Atlas208906_atAppendix12.000159.040Details
BioGPS Gene Atlas208906_atAtrioventricularNode12.650159.040Details
BioGPS Gene Atlas208906_atBDCA4+_DentriticCells33.000159.040Details
BioGPS Gene Atlas208906_atBonemarrow13.200159.040Details
BioGPS Gene Atlas208906_atBronchialEpithelialCells24.450159.040Details
BioGPS Gene Atlas208906_atCD105+_Endothelial25.000159.040Details
BioGPS Gene Atlas208906_atCD14+_Monocytes38.450159.040Details
BioGPS Gene Atlas208906_atCD19+_BCells(neg._sel.)28.700159.040Details
BioGPS Gene Atlas208906_atCD33+_Myeloid23.600159.040Details
BioGPS Gene Atlas208906_atCD34+43.150159.040Details
BioGPS Gene Atlas208906_atCD4+_Tcells21.850159.040Details
BioGPS Gene Atlas208906_atCD56+_NKCells37.550159.040Details
BioGPS Gene Atlas208906_atCD71+_EarlyErythroid15.950159.040Details
BioGPS Gene Atlas208906_atCD8+_Tcells17.100159.040Details
BioGPS Gene Atlas208906_atCardiacMyocytes13.150159.040Details
BioGPS Gene Atlas208906_atCaudatenucleus263.000159.040Details
BioGPS Gene Atlas208906_atCerebellum169.000159.040Details
BioGPS Gene Atlas208906_atCerebellumPeduncles369.650159.040Details
BioGPS Gene Atlas208906_atCiliaryGanglion22.550159.040Details
BioGPS Gene Atlas208906_atCingulateCortex308.100159.040Details
BioGPS Gene Atlas208906_atColorectaladenocarcinoma65.950159.040Details
BioGPS Gene Atlas208906_atDorsalRootGanglion29.300159.040Details
BioGPS Gene Atlas208906_atFetalThyroid31.400159.040Details
BioGPS Gene Atlas208906_atFetalbrain178.350159.040Details
BioGPS Gene Atlas208906_atFetalliver12.700159.040Details
BioGPS Gene Atlas208906_atFetallung23.500159.040Details
BioGPS Gene Atlas208906_atGlobusPallidus166.300159.040Details
BioGPS Gene Atlas208906_atHeart29.050159.040Details
BioGPS Gene Atlas208906_atHypothalamus664.800159.040Details
BioGPS Gene Atlas208906_atKidney38.550159.040Details
BioGPS Gene Atlas208906_atLeukemia_chronicMyelogenousK-56212.350159.040Details
BioGPS Gene Atlas208906_atLeukemia_promyelocytic-HL-6013.800159.040Details
BioGPS Gene Atlas208906_atLeukemialymphoblastic(MOLT-4)19.100159.040Details
BioGPS Gene Atlas208906_atLiver40.800159.040Details
BioGPS Gene Atlas208906_atLung85.750159.040Details
BioGPS Gene Atlas208906_atLymphnode14.200159.040Details
BioGPS Gene Atlas208906_atLymphoma_burkitts(Daudi)14.800159.040Details
BioGPS Gene Atlas208906_atLymphoma_burkitts(Raji)14.850159.040Details
BioGPS Gene Atlas208906_atMedullaOblongata211.350159.040Details
BioGPS Gene Atlas208906_atOccipitalLobe344.650159.040Details
BioGPS Gene Atlas208906_atOlfactoryBulb25.450159.040Details
BioGPS Gene Atlas208906_atOvary8.850159.040Details
BioGPS Gene Atlas208906_atPancreas19.150159.040Details
BioGPS Gene Atlas208906_atPancreaticIslet49.350159.040Details
BioGPS Gene Atlas208906_atParietalLobe217.950159.040Details
BioGPS Gene Atlas208906_atPituitary448.000159.040Details
BioGPS Gene Atlas208906_atPlacenta28.500159.040Details
BioGPS Gene Atlas208906_atPons183.850159.040Details
BioGPS Gene Atlas208906_atPrefrontalCortex615.050159.040Details
BioGPS Gene Atlas208906_atProstate59.850159.040Details
BioGPS Gene Atlas208906_atSalivarygland10.350159.040Details
BioGPS Gene Atlas208906_atSkeletalMuscle12.600159.040Details
BioGPS Gene Atlas208906_atSkin11.950159.040Details
BioGPS Gene Atlas208906_atSmoothMuscle18.050159.040Details
BioGPS Gene Atlas208906_atSpinalcord122.000159.040Details
BioGPS Gene Atlas208906_atSubthalamicNucleus327.750159.040Details
BioGPS Gene Atlas208906_atSuperiorCervicalGanglion12.800159.040Details
BioGPS Gene Atlas208906_atTemporalLobe383.650159.040Details
BioGPS Gene Atlas208906_atTestis585.900159.040Details
BioGPS Gene Atlas208906_atTestisGermCell376.400159.040Details
BioGPS Gene Atlas208906_atTestisIntersitial393.450159.040Details
BioGPS Gene Atlas208906_atTestisLeydigCell262.250159.040Details
BioGPS Gene Atlas208906_atTestisSeminiferousTubule323.200159.040Details
BioGPS Gene Atlas208906_atThalamus522.050159.040Details
BioGPS Gene Atlas208906_atThymus32.550159.040Details
BioGPS Gene Atlas208906_atThyroid70.450159.040Details
BioGPS Gene Atlas208906_atTongue16.800159.040Details
BioGPS Gene Atlas208906_atTonsil11.600159.040Details
BioGPS Gene Atlas208906_atTrachea18.750159.040Details
BioGPS Gene Atlas208906_atTrigeminalGanglion24.950159.040Details
BioGPS Gene Atlas208906_atUterus14.900159.040Details
BioGPS Gene Atlas208906_atUterusCorpus17.050159.040Details
BioGPS Gene Atlas208906_atWholeBlood26.600159.040Details
BioGPS Gene Atlas208906_atWholebrain728.200159.040Details
BioGPS Gene Atlas208906_atcolon21.950159.040Details
BioGPS Gene Atlas208906_atpineal_day788.020159.040Details
BioGPS Gene Atlas208906_atpineal_night767.440159.040Details
BioGPS Gene Atlas208906_atretina70.850159.040Details
BioGPS Gene Atlas208906_atsmall_intestine21.950159.040Details
BioGPS NCI60208906_at78639.635150.200Details
BioGPS NCI60208906_atA172345.038150.200Details
BioGPS NCI60208906_atA204102.499150.200Details
BioGPS NCI60208906_atA36192.435150.200Details
BioGPS NCI60208906_atA49895.788150.200Details
BioGPS NCI60208906_atA549112.556150.200Details
BioGPS NCI60208906_atACC370.131150.200Details
BioGPS NCI60208906_atACHN97.491150.200Details
BioGPS NCI60208906_atALVA3177.182150.200Details
BioGPS NCI60208906_atCAKI1156.832150.200Details
BioGPS NCI60208906_atCCRT CEM60.002150.200Details
BioGPS NCI60208906_atCOLO20570.313150.200Details
BioGPS NCI60208906_atDLD1127.522150.200Details
BioGPS NCI60208906_atDU14569.540150.200Details
BioGPS NCI60208906_atEKVX554.086150.200Details
BioGPS NCI60208906_atGM13364.104150.200Details
BioGPS NCI60208906_atGM160077.155150.200Details
BioGPS NCI60208906_atGM231397.342150.200Details
BioGPS NCI60208906_atGM234579.124150.200Details
BioGPS NCI60208906_atGM249383.817150.200Details
BioGPS NCI60208906_atGM9760.101150.200Details
BioGPS NCI60208906_atHCC299880.017150.200Details
BioGPS NCI60208906_atHCT116180.924150.200Details
BioGPS NCI60208906_atHCT15303.972150.200Details
BioGPS NCI60208906_atHEK 293 T-rex54.090150.200Details
BioGPS NCI60208906_atHEK 293T92.128150.200Details
BioGPS NCI60208906_atHEK29315.636150.200Details
BioGPS NCI60208906_atHELA91.690150.200Details
BioGPS NCI60208906_atHEPG270.393150.200Details
BioGPS NCI60208906_atHL6035.494150.200Details
BioGPS NCI60208906_atHOP62222.539150.200Details
BioGPS NCI60208906_atHOP9252.370150.200Details
BioGPS NCI60208906_atHS578T98.417150.200Details
BioGPS NCI60208906_atHSG111.320150.200Details
BioGPS NCI60208906_atHT10808.971150.200Details
BioGPS NCI60208906_atHT29156.339150.200Details
BioGPS NCI60208906_atIGROV1146.176150.200Details
BioGPS NCI60208906_atIOSE8091.826150.200Details
BioGPS NCI60208906_atJURKAT95.565150.200Details
BioGPS NCI60208906_atK56240.642150.200Details
BioGPS NCI60208906_atKM1244.522150.200Details
BioGPS NCI60208906_atLN18251.484150.200Details
BioGPS NCI60208906_atLNCAP350.967150.200Details
BioGPS NCI60208906_atLOX IMVI62.493150.200Details
BioGPS NCI60208906_atM14144.818150.200Details
BioGPS NCI60208906_atMALME 3M13.429150.200Details
BioGPS NCI60208906_atMCF7692.836150.200Details
BioGPS NCI60208906_atMD MB23179.963150.200Details
BioGPS NCI60208906_atMDA MB435351.855150.200Details
BioGPS NCI60208906_atMOLT471.887150.200Details
BioGPS NCI60208906_atNCI 460107.188150.200Details
BioGPS NCI60208906_atNCI H226179.297150.200Details
BioGPS NCI60208906_atNCI H2348.208150.200Details
BioGPS NCI60208906_atNCI H322M53.802150.200Details
BioGPS NCI60208906_atNCVADR RES14.131150.200Details
BioGPS NCI60208906_atOVCAR3106.614150.200Details
BioGPS NCI60208906_atOVCAR4205.378150.200Details
BioGPS NCI60208906_atOVCAR525.539150.200Details
BioGPS NCI60208906_atOVCAR821.840150.200Details
BioGPS NCI60208906_atPANC1154.024150.200Details
BioGPS NCI60208906_atRL751.944150.200Details
BioGPS NCI60208906_atRPMI 8226679.034150.200Details
BioGPS NCI60208906_atRS1184635.481150.200Details
BioGPS NCI60208906_atRXF39356.642150.200Details
BioGPS NCI60208906_atSAOS281.121150.200Details
BioGPS NCI60208906_atSF26869.153150.200Details
BioGPS NCI60208906_atSF29560.723150.200Details
BioGPS NCI60208906_atSF53965.688150.200Details
BioGPS NCI60208906_atSHSYSY+RA144.816150.200Details
BioGPS NCI60208906_atSHSYSY-RA381.182150.200Details
BioGPS NCI60208906_atSKMEL277.424150.200Details
BioGPS NCI60208906_atSKMEL28199.195150.200Details
BioGPS NCI60208906_atSKMEL5262.803150.200Details
BioGPS NCI60208906_atSKOV398.239150.200Details
BioGPS NCI60208906_atSN12C95.097150.200Details
BioGPS NCI60208906_atSNB19103.522150.200Details
BioGPS NCI60208906_atSNB7573.737150.200Details
BioGPS NCI60208906_atSR402.216150.200Details
BioGPS NCI60208906_atSW620133.733150.200Details
BioGPS NCI60208906_atT2484.276150.200Details
BioGPS NCI60208906_atT3M445.968150.200Details
BioGPS NCI60208906_atTK108.908150.200Details
BioGPS NCI60208906_atU118521.129150.200Details
BioGPS NCI60208906_atU138476.762150.200Details
BioGPS NCI60208906_atU20S8.620150.200Details
BioGPS NCI60208906_atU251132.539150.200Details
BioGPS NCI60208906_atU87465.588150.200Details
BioGPS NCI60208906_atUACC257206.151150.200Details
BioGPS NCI60208906_atUACC6292.617150.200Details
BioGPS NCI60208906_atUO3147.195150.200Details
BioGPS NCI60208906_atZR75_1201.971150.200Details
BioGPS NCI60208906_atastrocytes308.668150.200Details
BioGPS NCI60208906_athuh-752.309150.200Details