H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000034627 Accession number: BC009866 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein;
 
 

Transcript annotation summary  Locus view Protein view G-integra DiseaseInfo Viewer H-ANGEL Evola PPI viewer VaryGene H-DBAS LEGENDA Gene family TACT
H-Inv ID HIT000034627
H-Inv cluster ID Locus viewHIX0009721
H-Inv protein ID protein viewHIP000103906
Accession number BC009866.2
CAGE tag ID NA
EST ID NA
Genomic location  G-integra Help Chromosome 11
Location 11q12.3
Position 62457747- 62476986
Strand -
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q96G97)  [Identity/coverage = 99.5%/100.0%] to Homo sapiens (Human). protein.
Gene family / group NA
Gene symbol/name HGNC symbol BSCL2
HGNC aliases "spastic paraplegia 17 (Silver syndrome)"
HGNC name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
DDBJ NA
UniProt BSCL2
EC number NA
KEGG metabolic pathway NA
PubMed ID 11479539147020391498152015489334165548111657410418458148185859211927862021533227ALL
Related H-InvDB links Similarity Search ToolSimilarity Search Tool
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:26580
KEGG GENES KEGG GENES(26580)
GeneCard GeneCardBSCL2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Mini-G