Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.
| RefSeq Version | NM_003919.2, 150378491 |
| Length | 1709 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. |
| Product | epsilon-sarcoglycan isoform 2 |
| Comment | Summary: This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shorter C-terminus, compared to isoform 1. |
| RefSeq | NP_003910.1 |
| CDS | 112..1425 | Exon (1) | 1..220 | Exon (2) | 1..220 | Exon (3) | 221..343 | Exon (4) | 344..501 | Exon (5) | 502..574 | Exon (6) | 575..773 | Exon (7) | 774..936 | Exon (8) | 937..1148 | Exon (9) | 1149..1175 | Exon (10) | 1176..1364 | Exon (11) | 1365..1408 | Exon (12) | 1409..1700 |
| Translation | MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVH
VLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTA
ENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVL
GDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVE
NPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGE
YKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVH
HSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL
PHQTQIPQQQTTGKWYP
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| complement(249) | - | g, a | dbSNP:116632777 |
| 257 | + | a, g | dbSNP:11548284 |
| 400 | + | c, t | dbSNP:121908489 |
| 401 | + | a, g | dbSNP:11548285 |
| 415 | + | c, t | dbSNP:121908490 |
| complement(621) | - | g, a | dbSNP:55853245 |
| 698 | + | g, t | dbSNP:121908491 |
| complement(880) | - | t, g | dbSNP:116105264 |
| 1010 | + | a, c | dbSNP:11548286 |
| complement(1085) | - | t, g | dbSNP:117798006 |
| complement(1166) | - | t, c | dbSNP:74669480 |
| 1225 | + | c, t | dbSNP:121908492 |
| complement(1307) | - | t, g | dbSNP:17851923 |
| complement(1597) | - | g, a | dbSNP:112954947 |
| complement(1697) | - | g, a | dbSNP:11984148 |
| Gene Symbol | SGCE |
| Gene Synonym | DYT11; ESG |
| Chromosome | 7 |
| Locus Map | 7q21.3 |
| All Transcripts | NM_003919 , NM_001099401 , NM_001099400 |
| Title | Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to epsilon-sarcoglycan mutations: a pilot study . |
| Author | Azoulay-Zyss,J., Roze,E., Welter,M.L., Navarro,S., Yelnik,J., Clot,F., Bardinet,E., Karachi,C., Dormont,D., Galanaud,D., Pidoux,B., Cornu,P., Vidailhet,M. and Grabli,D. |
| Journal | Arch. Neurol. 68 (1), 94-98 (2011) |
| Title | Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome . |
| Author | Huang,C.L., Lan,M.Y., Chang,Y.Y., Hsu,C.Y., Lai,S.C., Chen,R.S., Chang,H.C., Lu,C.S. and Wu-Chou,Y.H. |
| Journal | Parkinsonism Relat. Disord. 16 (9), 585-589 (2010) |
| Title | MMP-7 and SGCE as distinctive molecular factors in sporadic colorectal cancers from the mutator phenotype pathway . |
| Author | Ortega,P., Moran,A., Fernandez-Marcelo,T., De Juan,C., Frias,C., Lopez-Asenjo,J.A., Sanchez-Pernaute,A., Torres,A., Diaz-Rubio,E., Iniesta,P. and Benito,M. |
| Journal | Int. J. Oncol. 36 (5), 1209-1215 (2010) |
| Title | Confirmed rare copy number variants implicate novel genes in schizophrenia . |
| Author | Tam,G.W., van de Lagemaat,L.N., Redon,R., Strathdee,K.E., Croning,M.D., Malloy,M.P., Muir,W.J., Pickard,B.S., Deary,I.J., Blackwood,D.H., Carter,N.P. and Grant,S.G. |
| Journal | Biochem. Soc. Trans. 38 (2), 445-451 (2010) |
| Title | Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation . |
| Author | Kurtis,M.M., San Luciano,M., Yu,Q., Goodman,R.R., Ford,B., Raymond,D., Pullman,S.L. and Saunders-Pullman,R. |
| Journal | Clin Neurol Neurosurg 112 (2), 149-152 (2010) |
| Title | Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia . |
| Author | Muller,B., Hedrich,K., Kock,N., Dragasevic,N., Svetel,M., Garrels,J., Landt,O., Nitschke,M., Pramstaller,P.P., Reik,W., Schwinger,E., Sperner,J., Ozelius,L., Kostic,V. and Klein,C. |
| Journal | Am. J. Hum. Genet. 71 (6), 1303-1311 (2002) |
| Title | Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex . |
| Author | Barresi,R., Moore,S.A., Stolle,C.A., Mendell,J.R. and Campbell,K.P. |
| Journal | J. Biol. Chem. 275 (49), 38554-38560 (2000) |
| Title | Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31 . |
| Author | Nygaard,T.G., Raymond,D., Chen,C., Nishino,I., Greene,P.E., Jennings,D., Heiman,G.A., Klein,C., Saunders-Pullman,R.J., Kramer,P., Ozelius,L.J. and Bressman,S.B. |
| Journal | Ann. Neurol. 46 (5), 794-798 (1999) |
| Title | Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene . |
| Author | McNally,E.M., Ly,C.T. and Kunkel,L.M. |
| Journal | FEBS Lett. 422 (1), 27-32 (1998) |
| Title | epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D . |
| Author | Ettinger,A.J., Feng,G. and Sanes,J.R. |
| Journal | J. Biol. Chem. 272 (51), 32534-32538 (1997) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |