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BSCL2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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;OMA:BSCL2 - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q12.3	Start	62,689,289bp^[1]
Band	11q12.3	End	62,709,845bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19 A\|19 5.76 cM	Start	8,814,831bp^[2]
Band	19 A\|19 5.76 cM	End	8,826,047bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

superior frontal gyrus

primary visual cortex

Pituitary Gland

anterior pituitary

right testis

Brodmann area 9

left testis

nucleus accumbens

caudate nucleus

Hypothalamus

Top expressed in

tunica adventitia of aorta

seminiferous tubule

white adipose tissue

brown adipose tissue

subcutaneous adipose tissue

facial motor nucleus

motor neuron

fossa

paraventricular nucleus of hypothalamus

condyle

More reference expression data

BioGPS

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

Species

Human

Mouse

Entrez


26580


14705

Ensembl


ENSG00000168000


ENSMUSG00000071657

UniProt


Q96G97


Q9Z2E9

RefSeq (mRNA)


NM_001122955 NM_001130702 NM_032667 NM_001386027 NM_001386028


NM_001136064 NM_001290823 NM_008144

RefSeq (protein)


NP_001116427 NP_001124174 NP_116056


NP_001129536 NP_001277752 NP_032170

Location (UCSC)

Chr 11: 62.69 – 62.71 Mb

Chr 19: 8.81 – 8.83 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Seipin is aprotein that in humans is encoded by theBSCL2gene.^[5]^[6]^[7]

Clinical significance

[edit]

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).

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000168000 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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. Retrieved2023-10-31.

External links

[edit]

GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy
HumanBSCL2 genome location andBSCL2 gene details page in theUCSC Genome Browser.

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.
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.

Intracellular signaling peptides and proteins

MAP

seeMAP kinase pathway

Calcium

G protein

Heterotrimeric

cAMP:	Heterotrimeric G protein Gs/Gi Adenylate cyclase cAMP 3',5'-cyclic-AMP phosphodiesterase Protein kinase A
cGMP:	Transducin Gustducin Guanylate cyclase cGMP 3',5'-cyclic-GMP phosphodiesterase Protein kinase G
G alpha subunit G_α GNAO1 GNAI1 GNAI2 GNAI3 GNAT1 GNAT2 GNAT3 GNAZ GNAS GNAL GNAQ GNA11 GNA12 GNA13 GNA14 GNA15/GNA16
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

Cyclin

Lipid

Otherprotein 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
Serine/threonine/tyrosine	Dual-specificity kinase DYRK1A DYRK1B DYRK2 DYRK3 DYRK4
Arginine	Arginine kinase McsB

Otherprotein 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