H-Inv ID |
HIT000034627 |
H-Inv cluster ID |
HIX0009721
|
H-Inv protein ID |
HIP000103906
|
Accession number |
BC009866.2
|
CAGE tag ID |
NA
|
EST ID |
NA
|
Genomic location
|
Chromosome |
11 |
Location |
11q12.3
|
Position |
62457747-
62476986
|
Strand |
-
|
Transcript feature
|
NO;
Splicing isoform
|
Coding potential
|
Protein coding;
|
Definition |
Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein; |
Similarity category
|
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 |
11479539;
14702039;
14981520;
15489334;
16554811;
16574104;
18458148;
18585921;
19278620;
21533227;
ALL;
|
Related H-InvDB links |
Similarity Search Tool
|
Database links |
RefSeq |
NA
|
Ensembl |
NA
|
Entrez Gene |
Entrez Gene ID:26580;
|
KEGG GENES |
KEGG GENES(26580);
|
GeneCard |
BSCL2;
*GeneCards is provided free to academic non-profit institutions.
|
etc |
Human-Gene diversity Of Life-style related Diseases;
|
Curation status |
Auto-annotated
|
Notes |
NA
|