Homo sapiens Protein: BSCL2
InnateDB Protein IDBP-295364.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BSCL2
Protein Name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Species Homo sapiens
Ensembl Protein ENSP00000384080
InnateDB Gene IDBG-51625 (BSCL2)
Protein Structure
UniProt Annotation
Function Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. {ECO:0000250, ECO:0000269PubMed:19278620, ECO:0000269PubMed:21533227}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000269PubMed:14981520, ECO:0000269PubMed:16574104, ECO:0000269PubMed:18458148}; Multi-pass membrane protein {ECO:0000269PubMed:14981520, ECO:0000269PubMed:16574104, ECO:0000269PubMed:18458148}.
Disease Associations Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269PubMed:11479539}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269PubMed:14981520}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000269PubMed:11479539, ECO:0000269PubMed:18458148, ECO:0000269PubMed:18585921}.
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0008219 cell death
GO:0016042 lipid catabolic process
GO:0019915 lipid storage
GO:0034389 lipid particle organization
GO:0045444 fat cell differentiation
GO:0050995 negative regulation of lipid catabolic process
Cellular Component
GO:0030176 integral component of endoplasmic reticulum membrane
Protein Structure and Domains
InterPro IPR009617 Adipose-regulatory protein, Seipin
PFAM PF06775
Post-translational Modifications
SwissProt Q96G97
PhosphoSite PhosphoSite-Q96G97
UniProt Splice Variant
Entrez Gene 26580
UniGene Hs.732344
RefSeq NP_116056
OMIM 606158
HPRD 05858
EMBL AF052149 AK027524 AK075317 AP001458 BC004911 BC012140 BC041640 BC093048 CH471076
GenPept AAH04911 AAH12140 AAH41640 AAH93048 BAB55175 BAC11543 EAW74070 EAW74074 EAW74075