BSCL2

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

Identifiers

BSCL2; FLJ16651; GNG3LG; HMN5; MGC4694; SPG17

External IDs

OMIM: 606158 MGI: 1298392 HomoloGene: 32032 GeneCards: BSCL2 Gene

Gene Ontology
Molecular function	• molecular_function
Cellular component	• endoplasmic reticulum • endoplasmic reticulum membrane • membrane • integral to membrane • integral to endoplasmic reticulum membrane
Biological process	• biological_process • cell death
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 11:
62.46 – 62.48 Mb

Chr 19:
8.91 – 8.92 Mb

PubMed search

[1]

[2]

Seipin is a protein that in humans is encoded by the BSCL2 gene.^[1]^[2]^[3]

It can be associated with Congenital generalized lipodystrophy type 2.

References

^ 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.
^ 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)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26580.

External links

GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139146.
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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226036.
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
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.
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. doi:10.1038/nature04209. PMID 16189514.
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.
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.
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.

Intracellular signaling peptides and proteins

MAP

see MAP kinase pathway

Calcium

Intracellular calcium-sensing proteins • Calcineurin • Calcium-calmodulin-dependent protein kinase

G protein

Heterotrimeric	cAMP: Heterotrimeric G protein (Gs/Gi) • Adenylate cyclase • cAMP • 3',5'-cyclic-AMP phosphodiesterase • Protein kinase A cGMP: Guanylate cyclase • cGMP • 3',5'-cyclic-GMP phosphodiesterase • Protein kinase G Beta-gamma complex G_β (GNB1, GNB2, GNB3, GNB4, GNB5) • G_γ (GNGT1, GNGT2, GNG2, GNG3, GNG4, GNG5, GNG7, GNG8, GNG10, GNG11, GNG12, GNG13, BSCL2) G protein-coupled receptor kinase • AMP-activated protein kinase

Monomeric	ARFs · Rabs · Ras (HRAS, KRAS, NRAS)

Cyclin

Cyclin-dependent kinase inhibitor protein • Cyclin-dependent kinase • Cyclin

Lipid

Phosphoinositide phospholipase C • Phospholipase c gamma

Other protein kinase

Serine/threonine: Casein kinase (1, 2) • eIF-2 kinase (EIF2AK3) • Glycogen synthase kinase (GSK1, GSK2, GSK-3, GSK3A, GSK3B) • IκB kinase (CHUK, IKK2, IKBKG) • Interleukin-1 receptor-associated kinase (IRAK1, IRAK2, IRAK3, IRAK4) • Lim kinase (LIMK1, LIMK2) • p21 activated kinases (PAK1, PAK2, PAK3, PAK4) • Rho-associated protein kinase (ROCK1, ROCK2) • Ribosomal s6 kinase (RPS6KA1)

Tyrosine: ZAP70 • Focal adhesion protein-tyrosine kinase (PTK2, PTK2B) • BTK

both: Dual-specificity kinase

Other phosphoprotein phosphatase

Serine/threonine: Protein phosphatase 2

Tyrosine: protein tyrosine phosphatase: Receptor-like protein tyrosine phosphatase • Sh2 domain-containing protein tyrosine phosphatase

both: Dual-specificity phosphatase

Apoptosis

see apoptosis signaling pathway

GTP-binding protein regulators

see GTP-binding protein regulators

Other

Activating transcription factor 6 • Signal transducing adaptor protein • I-kappa B protein • Mucin-4 • Olfactory marker protein • Phosphatidylethanolamine binding protein • EDARADD • PRKCSH

see also deficiencies of intracellular signaling peptides and proteins
B trdu: iter (nrpl/grfl/cytl/horl), csrc (lgic, enzr, gprc, igsr, intg, nrpr/grfr/cytr), itra (adap, gbpr, mapk), calc, lipd; path (hedp, wntp, tgfp+mapp, notp, jakp, fsap, hipp, tlrp)

BSCL2

References

External links

Further reading