BSCL2: Difference between revisions

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{{Short description|Protein-coding gene in the species Homo sapiens}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''[[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 | doi = 10.1038/ng585 | s2cid = 7718256 }}</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 | doi = 10.1038/ng1313 | doi-access = free }}</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}}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


== Clinical significance ==
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Mutations in BSCL2 are known to cause the following conditions:<ref>{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q96G97/entry#disease_variants |access-date=2023-10-31 |website=www.uniprot.org}}</ref>
{{GNF_Protein_box
| 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>


* [[Congenital generalized lipodystrophy|Congenital generalized lipodystrophy type 2]];
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
* Spastic paraplegia 17, autosomal dominant (SPG17);
{{PBB_Summary
* Neuronopathy, distal hereditary motor, 5C (HMN5C);
| section_title =
* Encephalopathy, progressive, with or without lipodystrophy (PELD).
| summary_text =
}}


==References==
==References==
{{reflist}}
{{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}}
*{{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 }}
{{PBB_Further_reading
*{{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}}
| 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=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=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=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=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=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=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=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 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
*{{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=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 |doi-access=free }}
*{{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=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|doi-access=free }}
*{{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=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|doi-access=free }}
*{{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=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=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=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=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=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 |s2cid=10908812 |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=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 |bibcode=2005Natur.437.1173R |s2cid=4427026 |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=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 |s2cid=42079115 |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=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 |s2cid=2333336 |doi-access=free }}
*{{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=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 |s2cid=26522445 }}
*{{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 | 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 | 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}}


{{Intracellular signaling peptides and proteins}}



{{protein-stub}}
{{protein-stub}}

Latest revision as of 04:20, 7 November 2023

BSCL2
Identifiers
AliasesBSCL2, GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin), seipin lipid droplet biogenesis associated, BSCL2 lipid droplet biogenesis associated, seipin, HMN5C
External IDsOMIM: 606158; MGI: 1298392; HomoloGene: 32032; GeneCards: BSCL2; OMA:BSCL2 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 19: 8.81 – 8.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Clinical significance[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168000 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)".
  8. ^ "UniProt". www.uniprot.org. Retrieved 2023-10-31.

External links[edit]

Further reading[edit]



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