SGCE: Difference between revisions

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{{Infobox_gene}}
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'''Epsilon-sarcoglycan''' is a [[protein]] that in humans is encoded by the ''SGCE'' [[gene]].<ref name="pmid9475163">{{cite journal | vauthors = McNally EM, Ly CT, Kunkel LM | title = Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene | journal = FEBS Lett | volume = 422 | issue = 1 | pages = 27–32 |date=Mar 1998 | pmid = 9475163 | pmc =  | doi =10.1016/S0014-5793(97)01593-7 }}</ref><ref name="pmid9405466">{{cite journal | vauthors = Ettinger AJ, Feng G, Sanes JR | title = epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D | journal = J Biol Chem | volume = 272 | issue = 51 | pages = 32534–8 |date=Jan 1998 | pmid = 9405466 | pmc =  | doi =10.1074/jbc.272.51.32534 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SGCE sarcoglycan, epsilon| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8910| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Sarcoglycan, epsilon
| HGNCid = 10808
| Symbol = SGCE
| AltSymbols =; ESG; DYT11
| OMIM = 604149
| ECnumber =
| Homologene = 31205
| MGIid = 1329042
  | GeneAtlas_image1 = PBB_GE_SGCE_204688_at_tn.png
  | Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016012 |text = sarcoglycan complex}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007160 |text = cell-matrix adhesion}} {{GNF_GO|id=GO:0007517 |text = muscle development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8910
    | Hs_Ensembl = ENSG00000127990
    | Hs_RefseqProtein = NP_003910
    | Hs_RefseqmRNA = NM_003919
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 94052480
    | Hs_GenLoc_end = 94123414
    | Hs_Uniprot = O43556
    | Mm_EntrezGene = 20392
    | Mm_Ensembl = ENSMUSG00000004631
    | Mm_RefseqmRNA = NM_011360
    | Mm_RefseqProtein = NP_035490
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 4624582
    | Mm_GenLoc_end = 4669506
    | Mm_Uniprot = Q3V1W5
  }}
}}
'''Sarcoglycan, epsilon''', also known as '''SGCE''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SGCE sarcoglycan, epsilon| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8910| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =
| summary_text = The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: SGCE sarcoglycan, epsilon| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8910| accessdate = }}</ref>
| summary_text = The SGCE gene encodes the epsilon member of the [[sarcoglycan]] family, transmembrane components of the [[dystrophin-glycoprotein complex]], which links the cytoskeleton to the extracellular matrix.[supplied by OMIM]<ref name="entrez"/>
}}
}}
==See also==
* [[Myoclonic dystonia]]


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal | author=Ettinger AJ, Feng G, Sanes JR |title=epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. |journal=J. Biol. Chem. |volume=272 |issue= 51 |pages= 32534-8 |year= 1998 |pmid= 9405466 |doi= }}
*{{cite journal   |vauthors=Nygaard TG, Raymond D, Chen C, etal |title=Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. |journal=Ann. Neurol. |volume=46 |issue= 5 |pages= 794–8 |year= 1999 |pmid= 10554001 |doi=10.1002/1531-8249(199911)46:5<794::AID-ANA19>3.0.CO;2-2  }}
*{{cite journal | author=McNally EM, Ly CT, Kunkel LM |title=Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. |journal=FEBS Lett. |volume=422 |issue= 1 |pages= 27-32 |year= 1998 |pmid= 9475163 |doi= }}
*{{cite journal   |vauthors=Barresi R, Moore SA, Stolle CA, etal |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554–60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
*{{cite journal | author=Nygaard TG, Raymond D, Chen C, ''et al.'' |title=Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. |journal=Ann. Neurol. |volume=46 |issue= 5 |pages= 794-8 |year= 1999 |pmid= 10554001 |doi= }}
*{{cite journal   |vauthors=Zimprich A, Grabowski M, Asmus F, etal |title=Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. |journal=Nat. Genet. |volume=29 |issue= 1 |pages= 66–9 |year= 2001 |pmid= 11528394 |doi= 10.1038/ng709 }}
*{{cite journal  | author=Barresi R, Moore SA, Stolle CA, ''et al.'' |title=Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. |journal=J. Biol. Chem. |volume=275 |issue= 49 |pages= 38554-60 |year= 2001 |pmid= 10993904 |doi= 10.1074/jbc.M007799200 }}
*{{cite journal  | vauthors=Fanin M, Angelini C |title=Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. |journal=Neuropathol. Appl. Neurobiol. |volume=28 |issue= 3 |pages= 190–9 |year= 2002 |pmid= 12060343 |doi=10.1046/j.1365-2990.2002.00389.x  }}
*{{cite journal | author=Zimprich A, Grabowski M, Asmus F, ''et al.'' |title=Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. |journal=Nat. Genet. |volume=29 |issue= 1 |pages= 66-9 |year= 2001 |pmid= 11528394 |doi= 10.1038/ng709 }}
*{{cite journal   |vauthors=Asmus F, Zimprich A, Tezenas Du Montcel S, etal |title=Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. |journal=Ann. Neurol. |volume=52 |issue= 4 |pages= 489–92 |year= 2002 |pmid= 12325078 |doi= 10.1002/ana.10325 }}
*{{cite journal | author=Fanin M, Angelini C |title=Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. |journal=Neuropathol. Appl. Neurobiol. |volume=28 |issue= 3 |pages= 190-9 |year= 2002 |pmid= 12060343 |doi= }}
*{{cite journal   |vauthors=Klein C, Liu L, Doheny D, etal |title=Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. |journal=Ann. Neurol. |volume=52 |issue= 5 |pages= 675–9 |year= 2002 |pmid= 12402271 |doi= 10.1002/ana.10358 }}
*{{cite journal | author=Asmus F, Zimprich A, Tezenas Du Montcel S, ''et al.'' |title=Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. |journal=Ann. Neurol. |volume=52 |issue= 4 |pages= 489-92 |year= 2002 |pmid= 12325078 |doi= 10.1002/ana.10325 }}
*{{cite journal   |vauthors=Müller B, Hedrich K, Kock N, etal |title=Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1303–11 |year= 2003 |pmid= 12444570 |doi=10.1086/344531  | pmc=378568  }}
*{{cite journal | author=Klein C, Liu L, Doheny D, ''et al.'' |title=Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. |journal=Ann. Neurol. |volume=52 |issue= 5 |pages= 675-9 |year= 2002 |pmid= 12402271 |doi= 10.1002/ana.10358 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 }}
*{{cite journal | author=Müller B, Hedrich K, Kock N, ''et al.'' |title=Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1303-11 |year= 2003 |pmid= 12444570 |doi= }}
*{{cite journal   |vauthors=Smallwood A, Papageorghiou A, Nicolaides K, etal |title=Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. |journal=Biol. Reprod. |volume=69 |issue= 1 |pages= 286–93 |year= 2004 |pmid= 12620933 |doi= 10.1095/biolreprod.102.013078 }}
*{{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=Grabowski M, Zimprich A, Lorenz-Depiereux B, etal |title=The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 2 |pages= 138–44 |year= 2003 |pmid= 12634861 |doi= 10.1038/sj.ejhg.5200938 }}
*{{cite journal | author=Smallwood A, Papageorghiou A, Nicolaides K, ''et al.'' |title=Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. |journal=Biol. Reprod. |volume=69 |issue= 1 |pages= 286-93 |year= 2004 |pmid= 12620933 |doi= 10.1095/biolreprod.102.013078 }}
*{{cite journal   |vauthors=Maréchal L, Raux G, Dumanchin C, etal |title=Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=119 |issue= 1 |pages= 114–7 |year= 2004 |pmid= 12707948 |doi= 10.1002/ajmg.b.10062 }}
*{{cite journal | author=Grabowski M, Zimprich A, Lorenz-Depiereux B, ''et al.'' |title=The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 2 |pages= 138-44 |year= 2003 |pmid= 12634861 |doi= 10.1038/sj.ejhg.5200938 }}
*{{cite journal   |vauthors=Foncke EM, Klein C, Koelman JH, etal |title=Hereditary myoclonus-dystonia associated with epilepsy. |journal=Neurology |volume=60 |issue= 12 |pages= 1988–90 |year= 2004 |pmid= 12821748 |doi= 10.1212/01.wnl.0000066020.99191.76}}
*{{cite journal | author=Maréchal L, Raux G, Dumanchin C, ''et al.'' |title=Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. |journal=Am. J. Med. Genet. B Neuropsychiatr. Genet. |volume=119 |issue= 1 |pages= 114-7 |year= 2004 |pmid= 12707948 |doi= 10.1002/ajmg.b.10062 }}
*{{cite journal   |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
*{{cite journal | author=Foncke EM, Klein C, Koelman JH, ''et al.'' |title=Hereditary myoclonus-dystonia associated with epilepsy. |journal=Neurology |volume=60 |issue= 12 |pages= 1988-90 |year= 2004 |pmid= 12821748 |doi=  }}
*{{cite journal   |vauthors=Clark HF, Gurney AL, Abaya E, etal |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 }}
*{{cite journal  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
*{{cite journal   |vauthors=Kock N, Kasten M, Schüle B, etal |title=Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. |journal=Mov. Disord. |volume=19 |issue= 2 |pages= 231–4 |year= 2004 |pmid= 14978685 |doi= 10.1002/mds.10635 }}
*{{cite journal  | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal  | vauthors=Nishiyama A, Endo T, Takeda S, Imamura M |title=Identification and characterization of epsilon-sarcoglycans in the central nervous system. |journal=Brain Res. Mol. Brain Res. |volume=125 |issue= 1-2 |pages= 1–12 |year= 2004 |pmid= 15193417 |doi= 10.1016/j.molbrainres.2004.01.012 }}
*{{cite journal | author=Kock N, Kasten M, Schüle B, ''et al.'' |title=Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. |journal=Mov. Disord. |volume=19 |issue= 2 |pages= 231-4 |year= 2004 |pmid= 14978685 |doi= 10.1002/mds.10635 }}
*{{cite journal   |vauthors=Asmus F, Schoenian S, Lichtner P, etal |title=Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. |journal=Neurogenetics |volume=6 |issue= 1 |pages= 55–6 |year= 2005 |pmid= 15627203 |doi= 10.1007/s10048-004-0206-z }}
*{{cite journal  | author=Nishiyama A, Endo T, Takeda S, Imamura M |title=Identification and characterization of epsilon-sarcoglycans in the central nervous system. |journal=Brain Res. Mol. Brain Res. |volume=125 |issue= 1-2 |pages= 1-12 |year= 2004 |pmid= 15193417 |doi= 10.1016/j.molbrainres.2004.01.012 }}
*{{cite journal   |vauthors=Valente EM, Edwards MJ, Mir P, etal |title=The epsilon-sarcoglycan gene in myoclonic syndromes. |journal=Neurology |volume=64 |issue= 4 |pages= 737–9 |year= 2005 |pmid= 15728306 |doi= 10.1212/01.WNL.0000151979.68010.9B }}
*{{cite journal | author=Asmus F, Schoenian S, Lichtner P, ''et al.'' |title=Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. |journal=Neurogenetics |volume=6 |issue= 1 |pages= 55-6 |year= 2005 |pmid= 15627203 |doi= 10.1007/s10048-004-0206-z }}
*{{cite journal | author=Valente EM, Edwards MJ, Mir P, ''et al.'' |title=The epsilon-sarcoglycan gene in myoclonic syndromes. |journal=Neurology |volume=64 |issue= 4 |pages= 737-9 |year= 2005 |pmid= 15728306 |doi= 10.1212/01.WNL.0000151979.68010.9B }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1414/  GeneReviews/NIH/NCBI/UW entry on Myoclonus-Dystonia]
* [[LOVD]] mutation database: [http://www.dmd.nl/nmdb2/?select_db=SGCE SGCE]
 
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{{gene-7-stub}}

Latest revision as of 06:14, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.[1][2][3]

The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM][3]

See also

References

  1. ↑ McNally EM, Ly CT, Kunkel LM (Mar 1998). "Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene". FEBS Lett. 422 (1): 27–32. doi:10.1016/S0014-5793(97)01593-7. PMID 9475163.
  2. ↑ Ettinger AJ, Feng G, Sanes JR (Jan 1998). "epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D". J Biol Chem. 272 (51): 32534–8. doi:10.1074/jbc.272.51.32534. PMID 9405466.
  3. ↑ 3.0 3.1 "Entrez Gene: SGCE sarcoglycan, epsilon".

Further reading

External links



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