BSCL2

BSCL2
Identifiers
Aliases	BSCL2 , GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin), seipin lipid droplet biogenesis associated, BSCL2 lipid droplet biogenesis associated, seipin, HMN5C
External IDs	OMIM: 606158 MGI: 1298392 HomoloGene: 32032 GeneCards: BSCL2
Gene location (Human)
Chr.	Chromosome 11 (human)
End	62,709,845 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	8,826,047 bp
RNA expression pattern
	Top expressed in
	superior frontal gyrus; ; pituitary gland; ; anterior pituitary; ; Brodmann area 9; ; nucleus accumbens; ; caudate nucleus; ; hypothalamus; ; prefrontal cortex; ; putamen; ; cerebellar cortex;
	Top expressed in
	seminiferous tubule; ; white adipose tissue; ; brown adipose tissue; ; subcutaneous adipose tissue; ; facial motor nucleus; ; motor neuron; ; fossa; ; paraventricular nucleus of hypothalamus; ; condyle; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ; molecular function ;
Cellular component	integral component of membrane ; integral component of endoplasmic reticulum membrane ; endoplasmic reticulum ; endoplasmic reticulum membrane ; membrane ;
Biological process	lipid catabolic process ; lipid storage ; negative regulation of lipid catabolic process ; fat cell differentiation ; lipid droplet organization ; lipid metabolism ; positive regulation of cold-induced thermogenesis ;
	Sources:Amigo / QuickGO
Orthologs
	26580
	14705
	ENSG00000168000
	ENSMUSG00000071657
	Q96G97
	Q9Z2E9
	NM_001122955 ; NM_001130702 ; NM_032667 ; NM_001386027 ; NM_001386028 Contents Clinical significance ; References ; External links ; Further reading ;
	NM_001136064 ; NM_001290823 ; NM_008144
	NP_001116427 ; NP_001124174 ; NP_116056
	NP_001129536 ; NP_001277752 ; NP_032170
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated November 01, 2023

Seipin is a protein that in humans is encoded by the BSCL2 gene.^[5]^[6]^[7]

Clinical significance

Mutations in BSCL2 are known to cause the following conditions:^[8]

Congenital generalized lipodystrophy type 2;
Spastic paraplegia 17, autosomal dominant (SPG17);
Neuronopathy, distal hereditary motor, 5C (HMN5C);
Encephalopathy, progressive, with or without lipodystrophy (PELD).

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Congenital generalized lipodystrophy is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide.

Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.

Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). Alternatively, seipin can be referred to as Berardinelli-Seip congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding gene of the same name, i.e. BSCL2. At protein level, seipin is expressed in cortical neurons in the frontal lobes, as well as motor neurons in the spinal cord. It is highly expressed in areas like the brain, testis and adipose tissue. Seipin's function is still unclear but it has been localized close to lipid droplets, and cells knocked out in seipin which have anomalous droplets. Hence, recent evidence suggests that seipin plays a crucial role in lipid droplet biogenesis.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168000 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071657 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J (Jul 2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nat Genet. 28 (4): 365–70. doi:10.1038/ng585. PMID 11479539. S2CID 7718256.
↑ Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K (Feb 2004). "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome". Nat Genet. 36 (3): 271–6. doi: 10.1038/ng1313 . PMID 14981520.
↑ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)".
↑ "UniProt". www.uniprot.org. Retrieved 2023-10-31.

External links

GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy
Human BSCL2 genome location and BSCL2 gene details page in the UCSC Genome Browser .

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Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Patel H, Hart PE, Warner TT, et al. (2001). "The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype". Am. J. Hum. Genet. 69 (1): 209–15. doi:10.1086/321267. PMC 1226036 . PMID 11389484.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Simha V, Garg A (2003). "Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes". J. Clin. Endocrinol. Metab. 88 (11): 5433–7. doi: 10.1210/jc.2003-030835 . PMID 14602785.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID 14702039.
Ebihara K, Kusakabe T, Masuzaki H, et al. (2004). "Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene". J. Clin. Endocrinol. Metab. 89 (5): 2360–4. doi: 10.1210/jc.2003-031211 . PMID 15126564.
Fu M, Kazlauskaite R, Baracho Mde F, et al. (2004). "Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects". J. Clin. Endocrinol. Metab. 89 (6): 2916–22. doi:10.1210/jc.2003-030485. PMC 3390418 . PMID 15181077.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, et al. (2005). "Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation". Ann. Neurol. 57 (3): 415–24. doi:10.1002/ana.20410. PMID 15732094. S2CID 10908812.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
van de Warrenburg BP, Scheffer H, van Eijk JJ, et al. (2006). "BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy". Neuromuscul. Disord. 16 (2): 122–5. doi:10.1016/j.nmd.2005.11.003. PMID 16427281. S2CID 42079115.
Gomes KB, Pardini VC, Ferreira AC, Fernandes AP (2006). "Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients". J. Inherit. Metab. Dis. 28 (6): 1123–31. doi:10.1007/s10545-005-0038-5. PMID 16435205. S2CID 2333336.
Cho HJ, Sung DH, Ki CS (2007). "Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy". Muscle Nerve. 36 (3): 384–6. doi:10.1002/mus.20792. PMID 17486577. S2CID 26522445.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000168000 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071657 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11479539-5] Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J (Jul 2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nat Genet. 28 (4): 365–70. doi:10.1038/ng585. PMID 11479539. S2CID 7718256.

[pmid14981520-6] Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K (Feb 2004). "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome". Nat Genet. 36 (3): 271–6. doi: 10.1038/ng1313 . PMID 14981520.

[entrez-7] "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)".

[8] "UniProt". www.uniprot.org. Retrieved 2023-10-31.

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BSCL2

Contents

Clinical significance

Related Research Articles

References

External links

Further reading