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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BSCL2, Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Sequence ID:NM_001122955
NM_001130702
NM_032667
NR_037948
NR_037949
RefSeqGene ID:NG_008461
Entrez Gene ID:26580
Ensembl ID:ENSG00000168000

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pineal gland, pituitary gland, placenta, pooled tissue, prostate, retina, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 
NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VGARS
SILVERSPASTIC PARAPLEGIA SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:11q13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:11: 62457746 - 62474819

 Exon Info From UCSC:
NM_001122955
NM_001130702
NM_032667

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3533654Full LengthBC004911Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
4564181Full LengthBC012140Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
5089532Full LengthBC041640Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
30384952Full LengthBC093048Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
3939021IncompleteBC009866Bernardinelli-Seip congenital lipodystrophy 2 (seipin)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_116056  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001122955 NP_001116427    
NM_001130702 NP_001124174    
NM_032667 NP_116056 Q96G97 DUF1226

Related Sequences

 
mRNAGenPeptSwissProt
BC004911 AAH04911 Q96G97
BC012140 AAH12140 Q96G97
BC041640 AAH41640 Q96G97
BC093048 AAH93048 Q96G97
DQ893483 ABM84409  
EU176769 ABW03570  
AK027524 BAB55175 Q96G97
AK075317 BAC11543 Q96G97
AK223606 BAD97326 Q53EN3
AK122942 BAG53809 B3KVJ7

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BSCL2 NP_001116427 R.norvegicus Bscl2 361722   NP_001012171 91
M.musculus Bscl2 14705 Gene Info NP_001129536 88

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)