Version 5.4
| Mus musculus Gene: Bscl2 | |||||||||||
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| Summary | |||||||||||
| InnateDB Gene | IDBG-141270.6 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | Bscl2 | ||||||||||
| Gene Name | Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) | ||||||||||
| Synonyms | 2900097C17Rik; AI046355; Gng3lg | ||||||||||
| Species | Mus musculus | ||||||||||
| Ensembl Gene | ENSMUSG00000071657 | ||||||||||
| Encoded Proteins |
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
| Entrez Gene | |||||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000168000:
This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011] |
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| Gene Information | |||||||||||
| Type | Protein coding | ||||||||||
| Genomic Location | Chromosome 19:8837467-8848683 | ||||||||||
| Strand | Forward strand | ||||||||||
| Band | A | ||||||||||
| Transcripts | |||||||||||
| Interactions | |||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||
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Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||
| SwissProt | Q9Z2E9 | ||||||||||
| TrEMBL | |||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | 14705 | ||||||||||
| UniGene | Mm.345134 | ||||||||||
| RefSeq | NM_001136064 NM_008144 NM_001290823 | ||||||||||
| OMIM | |||||||||||
| CCDS | CCDS29551 CCDS70931 | ||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| MGI ID | MGI:1298392 | ||||||||||
| MGI Symbol | Bscl2 | ||||||||||
| EMBL | AB030196 AB041588 AF069954 AK151606 AK155753 AK158901 AK170183 BC043023 BC061689 | ||||||||||
| GenPept | AAC77923 AAH43023 AAH61689 BAA92759 BAA95071 BAE30545 BAE33418 BAE34722 BAE41621 | ||||||||||
| RNA Seq Atlas | 14705 | ||||||||||