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BSCL2 cDNA ORF clone, Homo sapiens (human)

Gene Symbol BSCL2
Entrez Gene ID 26580
Full Name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms GNG3LG, HMN5, PELD, SPG17
General protein information
Preferred Names
seipin
Names
seipin
Bernardinelli-Seip congenital lipodystrophy type 2 protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13

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]. lac of sum
Disorder MIM:

606158

Disorder Html: Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver

mRNA and Protein(s)

mRNA Protein Name
NM_001122955 NP_001116427 seipin isoform 1
NM_032667 NP_116056 seipin isoform 2
NM_001130702 NP_001124174 seipin isoform 3



Homo sapiens (human) BSCL2 NP_001116427.1
Pan troglodytes (chimpanzee) LOC100609080 XP_003313147.1
Macaca mulatta (Rhesus monkey) BSCL2 XP_002799560.1
Canis lupus familiaris (dog) BSCL2 XP_853538.1
Bos taurus (cattle) BSCL2 NP_001015589.1
Mus musculus (house mouse) Bscl2 NP_001129536.1
Rattus norvegicus (Norway rat) Bscl2 NP_001012171.1
Danio rerio (zebrafish) bscl2 NP_001032473.1


Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following BSCL2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BSCL2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu18196
NM_001122955 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
OHu16794
NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$159.50-$223.30
$319.00
OHu16720 NM_001130702 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $265.30
$379.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu18196
Clone ID Related Accession (Same CDS sequence) NM_001122955
Accession Version NM_001122955.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1389bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product seipin isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG699373.1, BC093048.1 and DB296305.1. This sequence is a reference standard in the RefSeqGene project. On Mar 11, 2011 this sequence version replaced gi:195231754. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK223606.1, AF052149.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGTCTACAG AAAAGGTAGA CCAAAAGGAG GAAGCTGGGG AAAAAGAGGT GTGCGGAGAC 
CAGATCAAAG GACCGGACAA AGAGGAGGAA CCACCAGCTG CTGCATCCCA TGGCCAGGGG
TGGCGTCCAG GTGGCAGAGC AGCTAGGAAC GCAAGGCCTG AACCTGGGGC CAGACACCCT
GCTCTCCCGG CCATGGTCAA CGACCCTCCA GTACCTGCCT TACTGTGGGC CCAGGAGGTG
GGCCAAGTCT TGGCAGGCCG TGCCCGCAGG CTGCTGCTGC AGTTTGGGGT GCTCTTCTGC
ACCATCCTCC TTTTGCTCTG GGTGTCTGTC TTCCTCTATG GCTCCTTCTA CTATTCCTAT
ATGCCGACAG TCAGCCACCT CAGCCCTGTG CATTTCTACT ACAGGACCGA CTGTGATTCC
TCCACCACCT CACTCTGCTC CTTCCCTGTT GCCAATGTCT CGCTGACTAA GGGTGGACGT
GATCGGGTGC TGATGTATGG ACAGCCGTAT CGTGTTACCT TAGAGCTTGA GCTGCCAGAG
TCCCCTGTGA ATCAAGATTT GGGCATGTTC TTGGTCACCA TTTCCTGCTA CACCAGAGGT
GGCCGAATCA TCTCCACTTC TTCGCGTTCG GTGATGCTGC ATTACCGCTC AGACCTGCTC
CAGATGCTGG ACACACTGGT CTTCTCTAGC CTCCTGCTAT TTGGCTTTGC AGAGCAGAAG
CAGCTGCTGG AGGTGGAACT CTACGCAGAC TATAGAGAGA ACTCGTACGT GCCGACCACT
GGAGCGATCA TTGAGATCCA CAGCAAGCGC ATCCAGCTGT ATGGAGCCTA CCTCCGCATC
CACGCGCACT TCACTGGGCT CAGATACCTG CTATACAACT TCCCGATGAC CTGCGCCTTC
ATAGGTGTTG CCAGCAACTT CACCTTCCTC AGCGTCATCG TGCTCTTCAG CTACATGCAG
TGGGTGTGGG GGGGCATCTG GCCCCGACAC CGCTTCTCTT TGCAGGTTAA CATCCGAAAA
AGAGACAATT CCCGGAAGGA AGTCCAACGA AGGATCTCTG CTCATCAGCC AGGGCCTGAA
GGCCAGGAGG AGTCAACTCC GCAATCAGAT GTTACAGAGG ATGGTGAGAG CCCTGAAGAT
CCCTCAGGGA CAGAGGGTCA GCTGTCCGAG GAGGAGAAAC CAGATCAGCA GCCCCTGAGC
GGAGAAGAGG AGCTAGAGCC TGAGGCCAGT GATGGTTCAG GCTCCTGGGA AGATGCAGCT
TTGCTGACGG AGGCCAACCT GCCTGCTCCT GCTCCTGCTT CTGCTTCTGC CCCTGTCCTA
GAGACTCTGG GCAGCTCTGA ACCTGCTGGG GGTGCTCTCC GACAGCGCCC CACCTGCTCT
AGTTCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001116427.1
CDS513..1901
Misc Feature(1)459..461(+)
Misc Feature(2)813..1433(+)
Misc Feature(3)1494..1784(+)
Exon (1)1..599
Gene:BSCL2
Gene Synonym:
Exon (2)600..916
Gene:BSCL2
Gene Synonym:
Exon (3)917..998
Gene:BSCL2
Gene Synonym:
Exon (4)999..1142
Gene:BSCL2
Gene Synonym:
Exon (5)1143..1277
Gene:BSCL2
Gene Synonym:
Exon (6)1278..1375
Gene:BSCL2
Gene Synonym:
Exon (7)1376..1517
Gene:BSCL2
Gene Synonym:
Exon (8)1518..1584
Gene:BSCL2
Gene Synonym:
Exon (9)1585..1665
Gene:BSCL2
Gene Synonym:
Exon (10)1666..1746
Gene:BSCL2
Gene Synonym:
Exon (11)1747..2006
Gene:BSCL2
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001122955
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001122955

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
ATGTCTACAG AAAAGGTAGA CCAAAAGGAG GAAGCTGGGG AAAAAGAGGT GTGCGGAGAC 
CAGATCAAAG GACCGGACAA AGAGGAGGAA CCACCAGCTG CTGCATCCCA TGGCCAGGGG
TGGCGTCCAG GTGGCAGAGC AGCTAGGAAC GCAAGGCCTG AACCTGGGGC CAGACACCCT
GCTCTCCCGG CCATGGTCAA CGACCCTCCA GTACCTGCCT TACTGTGGGC CCAGGAGGTG
GGCCAAGTCT TGGCAGGCCG TGCCCGCAGG CTGCTGCTGC AGTTTGGGGT GCTCTTCTGC
ACCATCCTCC TTTTGCTCTG GGTGTCTGTC TTCCTCTATG GCTCCTTCTA CTATTCCTAT
ATGCCGACAG TCAGCCACCT CAGCCCTGTG CATTTCTACT ACAGGACCGA CTGTGATTCC
TCCACCACCT CACTCTGCTC CTTCCCTGTT GCCAATGTCT CGCTGACTAA GGGTGGACGT
GATCGGGTGC TGATGTATGG ACAGCCGTAT CGTGTTACCT TAGAGCTTGA GCTGCCAGAG
TCCCCTGTGA ATCAAGATTT GGGCATGTTC TTGGTCACCA TTTCCTGCTA CACCAGAGGT
GGCCGAATCA TCTCCACTTC TTCGCGTTCG GTGATGCTGC ATTACCGCTC AGACCTGCTC
CAGATGCTGG ACACACTGGT CTTCTCTAGC CTCCTGCTAT TTGGCTTTGC AGAGCAGAAG
CAGCTGCTGG AGGTGGAACT CTACGCAGAC TATAGAGAGA ACTCGTACGT GCCGACCACT
GGAGCGATCA TTGAGATCCA CAGCAAGCGC ATCCAGCTGT ATGGAGCCTA CCTCCGCATC
CACGCGCACT TCACTGGGCT CAGATACCTG CTATACAACT TCCCGATGAC CTGCGCCTTC
ATAGGTGTTG CCAGCAACTT CACCTTCCTC AGCGTCATCG TGCTCTTCAG CTACATGCAG
TGGGTGTGGG GGGGCATCTG GCCCCGACAC CGCTTCTCTT TGCAGGTTAA CATCCGAAAA
AGAGACAATT CCCGGAAGGA AGTCCAACGA AGGATCTCTG CTCATCAGCC AGGGCCTGAA
GGCCAGGAGG AGTCAACTCC GCAATCAGAT GTTACAGAGG ATGGTGAGAG CCCTGAAGAT
CCCTCAGGGA CAGAGGGTCA GCTGTCCGAG GAGGAGAAAC CAGATCAGCA GCCCCTGAGC
GGAGAAGAGG AGCTAGAGCC TGAGGCCAGT GATGGTTCAG GCTCCTGGGA AGATGCAGCT
TTGCTGACGG AGGCCAACCT GCCTGCTCCT GCTCCTGCTT CTGCTTCTGC CCCTGTCCTA
GAGACTCTGG GCAGCTCTGA ACCTGCTGGG GGTGCTCTCC GACAGCGCCC CACCTGCTCT
AGTTCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu16794
Clone ID Related Accession (Same CDS sequence) NM_032667
Accession Version NM_032667.6 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1197bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product seipin isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK027524.1, BC041640.1 and DB296305.1. On Mar 11, 2011 this sequence version replaced gi:171906560. Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK075317.1, AK225029.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GATACCTGCT ATACAACTTC CCGATGACCT GCGCCTTCAT AGGTGTTGCC
AGCAACTTCA CCTTCCTCAG CGTCATCGTG CTCTTCAGCT ACATGCAGTG GGTGTGGGGG
GGCATCTGGC CCCGACACCG CTTCTCTTTG CAGGTTAACA TCCGAAAAAG AGACAATTCC
CGGAAGGAAG TCCAACGAAG GATCTCTGCT CATCAGCCAG GGCCTGAAGG CCAGGAGGAG
TCAACTCCGC AATCAGATGT TACAGAGGAT GGTGAGAGCC CTGAAGATCC CTCAGGGACA
GAGGGTCAGC TGTCCGAGGA GGAGAAACCA GATCAGCAGC CCCTGAGCGG AGAAGAGGAG
CTAGAGCCTG AGGCCAGTGA TGGTTCAGGC TCCTGGGAAG ATGCAGCTTT GCTGACGGAG
GCCAACCTGC CTGCTCCTGC TCCTGCTTCT GCTTCTGCCC CTGTCCTAGA GACTCTGGGC
AGCTCTGAAC CTGCTGGGGG TGCTCTCCGA CAGCGCCCCA CCTGCTCTAG TTCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_116056.3
CDS219..1415
Misc Feature(1)111..113(+)
Misc Feature(2)297..359(+)
Misc Feature(3)327..947(+)
Misc Feature(4)945..1007(+)
Misc Feature(5)1008..1298(+)
Exon (1)1..113
Gene:BSCL2
Gene Synonym:
Exon (2)114..430
Gene:BSCL2
Gene Synonym:
Exon (3)431..512
Gene:BSCL2
Gene Synonym:
Exon (4)513..656
Gene:BSCL2
Gene Synonym:
Exon (5)657..791
Gene:BSCL2
Gene Synonym:
Exon (6)792..889
Gene:BSCL2
Gene Synonym:
Exon (7)890..1031
Gene:BSCL2
Gene Synonym:
Exon (8)1032..1098
Gene:BSCL2
Gene Synonym:
Exon (9)1099..1179
Gene:BSCL2
Gene Synonym:
Exon (10)1180..1260
Gene:BSCL2
Gene Synonym:
Exon (11)1261..1520
Gene:BSCL2
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_032667
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_032667

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GATACCTGCT ATACAACTTC CCGATGACCT GCGCCTTCAT AGGTGTTGCC
AGCAACTTCA CCTTCCTCAG CGTCATCGTG CTCTTCAGCT ACATGCAGTG GGTGTGGGGG
GGCATCTGGC CCCGACACCG CTTCTCTTTG CAGGTTAACA TCCGAAAAAG AGACAATTCC
CGGAAGGAAG TCCAACGAAG GATCTCTGCT CATCAGCCAG GGCCTGAAGG CCAGGAGGAG
TCAACTCCGC AATCAGATGT TACAGAGGAT GGTGAGAGCC CTGAAGATCC CTCAGGGACA
GAGGGTCAGC TGTCCGAGGA GGAGAAACCA GATCAGCAGC CCCTGAGCGG AGAAGAGGAG
CTAGAGCCTG AGGCCAGTGA TGGTTCAGGC TCCTGGGAAG ATGCAGCTTT GCTGACGGAG
GCCAACCTGC CTGCTCCTGC TCCTGCTTCT GCTTCTGCCC CTGTCCTAGA GACTCTGGGC
AGCTCTGAAC CTGCTGGGGG TGCTCTCCGA CAGCGCCCCA CCTGCTCTAG TTCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu16720
Clone ID Related Accession (Same CDS sequence) NM_001130702
Accession Version NM_001130702.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 864bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product seipin isoform 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK027524.1 and DB296305.1. On Mar 12, 2011 this sequence version replaced gi:195230752. Transcript Variant: This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK027524.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GGTTAACATC CGAAAAAGAG ACAATTCCCG GAAGGAAGTC CAACGAAGGA
TCTCTGCTCA TCAGCCAGGG CCTGAAGGCC AGGAGGAGTC AACTCCGCAA TCAGATGTTA
CAGAGGATGG TGAGAGCCCT GAAGATCCCT CAGGGACAGA GGGTCAGCTG TCCGAGGAGG
AGAAACCAGA TCAGCAGCCC CTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001124174.2
CDS219..1082
Misc Feature(1)111..113(+)
Misc Feature(2)297..359(+)
Misc Feature(3)327..890(+)
Exon (1)1..113
Gene:BSCL2
Gene Synonym:
Exon (2)114..430
Gene:BSCL2
Gene Synonym:
Exon (3)431..512
Gene:BSCL2
Gene Synonym:
Exon (4)513..656
Gene:BSCL2
Gene Synonym:
Exon (5)657..791
Gene:BSCL2
Gene Synonym:
Exon (6)792..889
Gene:BSCL2
Gene Synonym:
Exon (7)890..956
Gene:BSCL2
Gene Synonym:
Exon (8)957..1037
Gene:BSCL2
Gene Synonym:
Exon (9)1038..1118
Gene:BSCL2
Gene Synonym:
Exon (10)1119..1378
Gene:BSCL2
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001130702
Organism Homo sapiens (human)
Definition Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001130702

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGTCAACG ACCCTCCAGT ACCTGCCTTA CTGTGGGCCC AGGAGGTGGG CCAAGTCTTG 
GCAGGCCGTG CCCGCAGGCT GCTGCTGCAG TTTGGGGTGC TCTTCTGCAC CATCCTCCTT
TTGCTCTGGG TGTCTGTCTT CCTCTATGGC TCCTTCTACT ATTCCTATAT GCCGACAGTC
AGCCACCTCA GCCCTGTGCA TTTCTACTAC AGGACCGACT GTGATTCCTC CACCACCTCA
CTCTGCTCCT TCCCTGTTGC CAATGTCTCG CTGACTAAGG GTGGACGTGA TCGGGTGCTG
ATGTATGGAC AGCCGTATCG TGTTACCTTA GAGCTTGAGC TGCCAGAGTC CCCTGTGAAT
CAAGATTTGG GCATGTTCTT GGTCACCATT TCCTGCTACA CCAGAGGTGG CCGAATCATC
TCCACTTCTT CGCGTTCGGT GATGCTGCAT TACCGCTCAG ACCTGCTCCA GATGCTGGAC
ACACTGGTCT TCTCTAGCCT CCTGCTATTT GGCTTTGCAG AGCAGAAGCA GCTGCTGGAG
GTGGAACTCT ACGCAGACTA TAGAGAGAAC TCGTACGTGC CGACCACTGG AGCGATCATT
GAGATCCACA GCAAGCGCAT CCAGCTGTAT GGAGCCTACC TCCGCATCCA CGCGCACTTC
ACTGGGCTCA GGTTAACATC CGAAAAAGAG ACAATTCCCG GAAGGAAGTC CAACGAAGGA
TCTCTGCTCA TCAGCCAGGG CCTGAAGGCC AGGAGGAGTC AACTCCGCAA TCAGATGTTA
CAGAGGATGG TGAGAGCCCT GAAGATCCCT CAGGGACAGA GGGTCAGCTG TCCGAGGAGG
AGAAACCAGA TCAGCAGCCC CTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Lack of testicular seipin causes teratozoospermia syndrome in men
Proc. Natl. Acad. Sci. U.S.A. 111 (19), 7054-7059 (2014)
Jiang M, Gao M, Wu C, He H, Guo X, Zhou Z, Yang H, Xiao X, Liu G and Sha J.


book

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
BMC Med. Genet. 15, 71 (2014)
Schuster J, Khan TN, Tariq M, Shaiq PA, Mabert K, Baig SM and Klar J.


book

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms
Diabetologia 56 (11), 2498-2506 (2013)
Sim MF, Talukder MM, Dennis RJ, O'Rahilly S, Edwardson JM and Rochford JJ.


book

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
Nat. Genet. 36 (3), 271-276 (2004)
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH and Wagner K.


book

Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes
J. Clin. Endocrinol. Metab. 88 (11), 5433-5437 (2003)
Simha V and Garg A.


book

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
Nat. Genet. 28 (4), 365-370 (2001)
Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M and Capeau J.


book

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
Am. J. Hum. Genet. 69 (1), 209-215 (2001)
Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S and Crosby AH.


book

Hereditary Spastic Paraplegia Overview
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Fink,J.K.


book

BSCL2-Related Neurologic Disorders/Seipinopathy
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Ito,D.


book

Berardinelli-Seip Congenital Lipodystrophy
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Van Maldergem,L.


 
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