BSCL2: Difference between revisions

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{{Infobox_gene}}
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'''[[Seipin]]''' is a [[protein]] that in humans is encoded by the ''BSCL2'' [[gene]].<ref name="pmid11479539">{{cite journal | vauthors = 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 | title = Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13 | journal = Nat Genet | volume = 28 | issue = 4 | pages = 365–70 |date=Jul 2001 | pmid = 11479539 | pmc =  | doi = 10.1038/ng585 }}</ref><ref name="pmid14981520">{{cite journal | vauthors = 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 | title = Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome | journal = Nat Genet | volume = 36 | issue = 3 | pages = 271–6 |date=Feb 2004 | pmid = 14981520 | pmc = | doi = 10.1038/ng1313 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26580| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{GNF_Protein_box
It can be associated with {{SWL|type=mutations_associated_to|target=Congenital generalized lipodystrophy|label=Congenital generalized lipodystrophy type 2}} .
| image = 
| image_source = 
| PDB =  
| Name = Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
| HGNCid = 15832
| Symbol = BSCL2
| AltSymbols =; GNG3LG; MGC4694; SPG17
| OMIM = 606158
| ECnumber = 
| Homologene = 32032
| MGIid = 1298392
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0030176 |text = integral to endoplasmic reticulum membrane}}
| Process = {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 26580
    | Hs_Ensembl = 
    | Hs_RefseqProtein = NP_116056
    | Hs_RefseqmRNA = NM_032667
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = Q96G97
    | Mm_EntrezGene = 14705
    | Mm_Ensembl = ENSMUSG00000071657
    | Mm_RefseqmRNA = NM_008144
    | Mm_RefseqProtein = NP_032170
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 8904774
    | Mm_GenLoc_end = 8915711
    | Mm_Uniprot = Q9Z2E9
  }}
}}
'''Bernardinelli-Seip congenital lipodystrophy 2 (seipin)''', also known as '''BSCL2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26580| accessdate = }}</ref>


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==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=spg17  GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy]
* {{UCSC gene info|BSCL2}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
*{{cite journal  | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
*{{cite journal  | vauthors=Andersson B, Wentland MA, Ricafrente JY |title=A "double adaptor" method for improved shotgun library construction |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 |display-authors=etal}}
*{{cite journal  | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi=  }}
*{{cite journal  | vauthors=Yu W, Andersson B, Worley KC |title=Large-scale concatenation cDNA sequencing |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=  10.1101/gr.7.4.353| pmc=139146  |display-authors=etal}}
*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi=  }}
*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
*{{cite journal  | author=Patel H, Hart PE, Warner TT, ''et al.'' |title=The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 209-15 |year= 2001 |pmid= 11389484 |doi= }}
*{{cite journal  | vauthors=Patel H, Hart PE, Warner TT |title=The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 209–15 |year= 2001 |pmid= 11389484 |doi=10.1086/321267 | pmc=1226036  |display-authors=etal}}
*{{cite journal | author=Magré J, Delépine M, Khallouf E, ''et al.'' |title=Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. |journal=Nat. Genet. |volume=28 |issue= 4 |pages= 365-70 |year= 2001 |pmid= 11479539 |doi= 10.1038/ng585 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Simha V, Garg A |title=Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 11 |pages= 5433–7 |year= 2003 |pmid= 14602785 |doi=10.1210/jc.2003-030835 }}
*{{cite journal  | author=Simha V, Garg A |title=Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 11 |pages= 5433-7 |year= 2003 |pmid= 14602785 |doi=  }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Ebihara K, Kusakabe T, Masuzaki H |title=Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 5 |pages= 2360–4 |year= 2004 |pmid= 15126564 |doi=10.1210/jc.2003-031211 |display-authors=etal}}
*{{cite journal  | author=Windpassinger C, Auer-Grumbach M, Irobi J, ''et al.'' |title=Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. |journal=Nat. Genet. |volume=36 |issue= 3 |pages= 271-6 |year= 2004 |pmid= 14981520 |doi= 10.1038/ng1313 }}
*{{cite journal  | vauthors=Fu M, Kazlauskaite R, Baracho Mde F |title=Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 6 |pages= 2916–22 |year= 2004 |pmid= 15181077 |doi= 10.1210/jc.2003-030485 |pmc=3390418|display-authors=etal}}
*{{cite journal  | author=Ebihara K, Kusakabe T, Masuzaki H, ''et al.'' |title=Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 5 |pages= 2360-4 |year= 2004 |pmid= 15126564 |doi=  }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Fu M, Kazlauskaite R, Baracho Mde F, ''et al.'' |title=Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 6 |pages= 2916-22 |year= 2004 |pmid= 15181077 |doi= 10.1210/jc.2003-030485 }}
*{{cite journal  | vauthors=Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H |title=Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 415–24 |year= 2005 |pmid= 15732094 |doi= 10.1002/ana.20410 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal}}
*{{cite journal  | author=Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, ''et al.'' |title=Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. |journal=Ann. Neurol. |volume=57 |issue= 3 |pages= 415-24 |year= 2005 |pmid= 15732094 |doi= 10.1002/ana.20410 }}
*{{cite journal  | vauthors=van de Warrenburg BP, Scheffer H, van Eijk JJ |title=BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy |journal=Neuromuscul. Disord. |volume=16 |issue= 2 |pages= 122–5 |year= 2006 |pmid= 16427281 |doi= 10.1016/j.nmd.2005.11.003 |display-authors=etal}}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal  | vauthors=Gomes KB, Pardini VC, Ferreira AC, Fernandes AP |title=Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients |journal=J. Inherit. Metab. Dis. |volume=28 |issue= 6 |pages= 1123–31 |year= 2006 |pmid= 16435205 |doi= 10.1007/s10545-005-0038-5 }}
*{{cite journal  | author=van de Warrenburg BP, Scheffer H, van Eijk JJ, ''et al.'' |title=BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. |journal=Neuromuscul. Disord. |volume=16 |issue= 2 |pages= 122-5 |year= 2006 |pmid= 16427281 |doi= 10.1016/j.nmd.2005.11.003 }}
*{{cite journal  | vauthors=Cho HJ, Sung DH, Ki CS |title=Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy |journal=Muscle Nerve |volume=36 |issue= 3 |pages= 384–6 |year= 2007 |pmid= 17486577 |doi= 10.1002/mus.20792 }}
*{{cite journal  | author=Gomes KB, Pardini VC, Ferreira AC, Fernandes AP |title=Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. |journal=J. Inherit. Metab. Dis. |volume=28 |issue= 6 |pages= 1123-31 |year= 2006 |pmid= 16435205 |doi= 10.1007/s10545-005-0038-5 }}
*{{cite journal  | author=Cho HJ, Sung DH, Ki CS |title=Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. |journal=Muscle Nerve |volume=36 |issue= 3 |pages= 384-6 |year= 2007 |pmid= 17486577 |doi= 10.1002/mus.20792 }}
}}
}}
{{refend}}
{{refend}}
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{{Intracellular signaling peptides and proteins}}


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Latest revision as of 02:40, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

Clinical significance

It can be associated with Congenital generalized lipodystrophy type 2 .


References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)".

External links

Further reading



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