BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26580
Gene name Gene Name - the full gene name approved by the HGNC.
BSCL2 lipid droplet biogenesis associated, seipin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BSCL2
Synonyms (NCBI Gene) Gene synonyms aliases
GNG3LG, HMN5, HMN5C, HMND13, PELD, SPG17
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 lipodystr
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(111)
miRTarBase ID miRNA Experiments Reference
MIRT480682 hsa-miR-613 PAR-CLIP 23592263
MIRT480681 hsa-miR-206 PAR-CLIP 23592263
MIRT480680 hsa-miR-1-3p PAR-CLIP 23592263
MIRT480679 hsa-miR-106a-5p PAR-CLIP 23592263
MIRT480678 hsa-miR-106b-5p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 30901948, 30970241, 31515488, 31708432, 32814053
GO:0005543 Function Phospholipid binding IDA 30293840
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 14981520, 27879284, 30901948, 31708432
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606158 15832 ENSG00000168000
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96G97
Protein name Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)
Protein function Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:30293840, PubMed:31708432). In association with LDAF1, defines the
PDB 6DS5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06775 Seipin 39 → 243 Putative adipose-regulatory protein (Seipin) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:18458148, ECO:0000269|Pub
Sequence 
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV
SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN
QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE
VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE
ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
Sequence length 398
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth Disease rs587777606, rs137852973, rs1554982914, rs1590881633, rs1011200048, rs749890533, rs137852975, rs758843908, rs587777608 N/A
Congenital Lipodystrophy Berardinelli-Seip congenital lipodystrophy, congenital generalized lipodystrophy type 2 rs1064797076, rs587777608, rs557044760, rs587777606, rs1554983076, rs786205071, rs1565142553, rs879254029, rs137852973, rs749890533, rs137852970, rs137852974, rs766061024, rs137852975, rs786205069
View all (6 more)		 N/A
Distal Hereditary Motor Neuronopathy Neuronopathy, distal hereditary motor, type 5C rs137852973, rs137852970 N/A
Hereditary spastic paraplegia Hereditary spastic paraplegia 17 rs137852973 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neuropathy distal hereditary motor neuropathy N/A N/A GenCC
Partial Lipodystrophy pparg-related familial partial lipodystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
6q24 Related Transient Neonatal Diabetes Mellitus Associate 35351089
Aphasia Associate 30903322
Brain Diseases Associate 27391332, 29367704, 30447390, 30903322, 31341166, 31369919
Cardiomyopathies Associate 21126715, 27612026
Cardiomyopathy Hypertrophic Associate 19041432, 20616664, 23659685
Charcot Marie Tooth Disease Associate 29336362
Cognition Disorders Associate 30563316
COVID 19 Associate 36510129
Cystic Fibrosis Inhibit 33482299
Daneman Davy Mancer syndrome Associate 16735770