C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000071657 Bscl2 10090 + 19:8837467-8848683 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000086058 Bscl2-008 8840519-8848666 protein_coding
  ENSMUST00000159571 Bscl2-003 8839373-8848667 retained_intron
  ENSMUST00000159634 Bscl2-001 8837729-8848667 protein_coding
  ENSMUST00000159653 Bscl2-009 8846190-8848623 nonsense_mediated_decay
  ENSMUST00000159770 Bscl2-007 8837687-8840243 processed_transcript
  ENSMUST00000160556 Bscl2-002 8839328-8848666 protein_coding
  ENSMUST00000160897 Bscl2-004 8839390-8848638 nonsense_mediated_decay
  ENSMUST00000162071 Bscl2-006 8840535-8848666 retained_intron
  ENSMUST00000162580 Bscl2-005 8840535-8848666 retained_intron
  ENSMUST00000171649 Bscl2-201 8837467-8848683 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000086058ENSMUST00000159634ENSMUST00000159653ENSMUST00000171649
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000086058 228.403±79.92 196.067±18.44 30.843±1.28 26.802±0.00 210.830±36.24 67.966±8.07 16.939±5.34 73.139±16.58 38.358±20.43 55.115±6.43 1.870±0.00 74.335±20.90 6.346±3.35 170.841±72.07
ENSMUST00000159634 N/A N/A N/A N/A N/A N/A N/A N/A 3.077±0.21 N/A 2.468±0.83 15.058±3.41 3.029±0.00 34.547±0.00
ENSMUST00000159653 N/A N/A N/A 41.640±0.00 N/A N/A N/A N/A N/A N/A N/A 38.848±0.00 14.816±0.00 N/A
ENSMUST00000171649 N/A N/A 6.943±0.00 11.895±0.00 N/A N/A 4.151±0.96 6.997±0.39 2.855±0.56 6.584±0.43 4.673±0.57 6.695±2.00 2.264±0.02 143.347±68.04

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00089X CIL_00089X_0002 VISTA 19:8644197-9245760

Gene Ontology

GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0016042 IEA lipid catabolic process
GO:0019915 IEA lipid storage
GO:0030176 ISS integral component of endoplasmic reticulum membrane
GO:0034389 IEA lipid particle organization
GO:0045444 IMP fat cell differentiation
GO:0050995 IMP negative regulation of lipid catabolic process

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000025912 bscl2l Bernardinelli-Seip congenital lipodystrophy 2, like protein_coding Danio_rerio
ENSDARG00000037008 bscl2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin) protein_coding Danio_rerio
ENSG00000168000 BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) protein_coding Homo_sapiens

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