Property Summary

NCBI Gene PubMed Count 72
Grant Count 48
R01 Count 29
Funding $12,729,509.86
PubMed Score 232.89
PubTator Score 166.08

Knowledge Summary

Patent

No data available

Expression

Pathway (1)

Gene RIF (54)

PMID Text
26975546 BSCL2 defines the localization of adipose differentiation-related protein, which has a role in lipid accumulation and adipogenic differentiation
26815532 BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with distal hereditary motor neuropathy.
26282322 Increased aggregation and subsequent impaired oligomerization of Celia seipin leads to cell death. In heterozygous carriers, wildtype seipin might prevent the damage caused by mutant seipin through its sequestration into harmless mixed oligomers.
25934999 We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis
25832430 The mutation of seipin at glycosylation sites disrupt its function in regulating lipid droplet metabolism, and the autophagy acts as an adaptive response to break down abnormal lipid droplets.
25487175 The S90L mutationof BSCL2 is predominantly associated with Silver syndrome
25219579 A missense mutation was found in BSCL2 N88S, in a patient with Silver syndrome.
25195639 a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis.
24961962 A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy.
24778225 Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice.
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AA Sequence

MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYY      1 - 70
RTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRII     71 - 140
STSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLY    141 - 210
GAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNS    211 - 280
RKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSG    281 - 350
SWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS                          351 - 398
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Text Mined References (73)

PMID Year Title
26975546 2016 Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26815532 2016 Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
26282322 2015 Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
25934999 2015 Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.
25832430 2015 Seipin mutation at glycosylation sites activates autophagy in transfected cells via abnormal large lipid droplets generation.
25487175 2015 BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.
25416956 2014 A proteome-scale map of the human interactome network.
25219579 2015 BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.
25195639 2014 Towards a mechanistic understanding of lipodystrophy and seipin functions.
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