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 (seipin)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000168000 BSCL2 9606 - 11:62690275-62709845 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000278893 BSCL2-008 62690276-62706315 protein_coding
  ENST00000301781 BSCL2-002 62690312-62707518 nonsense_mediated_decay
  ENST00000360796 BSCL2-003 62690276-62707398 protein_coding
  ENST00000403098 BSCL2-027 62690281-62692749 protein_coding
  ENST00000403550 BSCL2-006 62690295-62706234 protein_coding
  ENST00000405837 BSCL2-001 62690275-62709514 protein_coding
  ENST00000407022 BSCL2-005 62690295-62706344 protein_coding
  ENST00000412351 BSCL2-015 62691392-62697566 processed_transcript
  ENST00000413908 BSCL2-010 62705494-62707463 nonsense_mediated_decay
  ENST00000421906 BSCL2-004 62690315-62706344 protein_coding
  ENST00000448568 BSCL2-022 62692376-62706218 protein_coding
  ENST00000449636 BSCL2-012 62690275-62691339 protein_coding
  ENST00000463679 BSCL2-011 62690278-62691342 retained_intron
  ENST00000464544 BSCL2-009 62705426-62709845 protein_coding
  ENST00000468505 BSCL2-013 62690970-62692797 retained_intron
  ENST00000470529 BSCL2-014 62690276-62691178 retained_intron
  ENST00000524862 BSCL2-020 62692749-62709320 protein_coding
  ENST00000525000 BSCL2-025 62694676-62707144 protein_coding
  ENST00000526426 BSCL2-028 62692410-62694712 processed_transcript
  ENST00000528874 BSCL2-021 62707126-62709064 protein_coding
  ENST00000530009 BSCL2-018 62707111-62709845 protein_coding
  ENST00000530900 BSCL2-026 62694600-62706256 processed_transcript
  ENST00000531524 BSCL2-023 62692696-62709528 protein_coding
  ENST00000532115 BSCL2-017 62691336-62694711 processed_transcript
  ENST00000532818 BSCL2-019 62705336-62709731 protein_coding
  ENST00000533982 BSCL2-024 62694708-62707349 protein_coding
  ENST00000537604 BSCL2-029 62694558-62706220 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; BrainENST00000360796
Transcript ID Brain
ENST00000360796 64.379±7.19

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00089X CIL_00089X_0001 VISTA 11:62298635-62900076
CIL_000689 CIL_000689_0002 CGP 11:62690275-62709845

Gene Ontology

GO IDEvidence TypeGO Description
GO:0003674 ND molecular_function
GO:0008219 IEA cell death
GO:0016042 IEA lipid catabolic process
GO:0019915 IMP lipid storage
GO:0030176 IDA integral component of endoplasmic reticulum membrane
GO:0034389 IMP lipid particle organization
GO:0045444 ISS fat cell differentiation
GO:0050995 ISS 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
ENSMUSG00000071657 Bscl2 Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin) protein_coding Mus_musculus

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