Homo sapiens epiphycan (EPYC), mRNA.
| RefSeq Version | NM_004950.4, 223941903 |
| Length | 1553 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens epiphycan (EPYC), mRNA. |
| Product | epiphycan precursor |
| Comment | Summary: Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq]. COMPLETENESS: full length. |
| RefSeq | NP_004941.2 |
| CDS | 94..1062 | Exon (1) | 1..80 | Exon (2) | 1..80 | Exon (3) | 81..258 | Exon (4) | 259..433 | Exon (5) | 434..592 | Exon (6) | 593..795 | Exon (7) | 796..891 | Exon (8) | 892..1539 |
| Translation | MKTLAGLVLGLVIFDAAVTAPTLESINYDSETYDATLEDLDNLYNYENIPVDKVEIEIAT
VMPSGNRELLTPPPQPEKAQEEEEEEESTPRLIDGSSPQEPEFTGVLGPHTNEDFPTCLL
CTCISTTVYCDDHELDAIPPLPKNTAYFYSRFNRIKKINKNDFASLSDLKRIDLTSNLIS
EIDEDAFRKLPQLRELVLRDNKIRQLPELPTTLTFIDISNNRLGRKGIKQEAFKDMYDLH
HLYLTDNNLDHIPLPLPENLRALHLQNNNILEMHEDTFCNVKNLTYIRKALEDIRLDGNP
INLSKTPQAYMCLPRLPVGSLV
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| Position | Chain | Variation | Link |
| complement(4) | - | c, a | dbSNP:10777279 |
| complement(41) | - | g, c | dbSNP:113814381 |
| complement(155..156) | - | , g | dbSNP:35141815 |
| complement(189) | - | t, g | dbSNP:76171854 |
| complement(238) | - | t, c | dbSNP:115626888 |
| complement(245) | - | g, a | dbSNP:116545939 |
| complement(248) | - | t, c | dbSNP:17852857 |
| complement(341) | - | t, c | dbSNP:34037526 |
| complement(407) | - | t, c | dbSNP:115633176 |
| complement(522) | - | t, c | dbSNP:115968659 |
| complement(542) | - | g, c | dbSNP:17784152 |
| complement(544) | - | g, a | dbSNP:114231682 |
| complement(630) | - | t, g | dbSNP:34062416 |
| 731 | + | c, t | dbSNP:1135866 |
| complement(796) | - | t, c | dbSNP:116772978 |
| complement(861) | - | g, a | dbSNP:114357917 |
| complement(894) | - | t, a | dbSNP:114893153 |
| complement(923) | - | g, c | dbSNP:34988585 |
| 935 | + | g, t | dbSNP:1135867 |
| complement(945) | - | g, c | dbSNP:116446912 |
| 1014 | + | a, t | dbSNP:1135869 |
| complement(1019) | - | t, g | dbSNP:115903918 |
| complement(1201..1202) | - | , ttata | dbSNP:67493115 |
| complement(1202..1203) | - | , ttata | dbSNP:3047073 |
| complement(1202) | - | t, a | dbSNP:75990266 |
| complement(1207..1208) | - | , attat | dbSNP:34070406 |
| complement(1208..1209) | - | , attat | dbSNP:5799968 |
| complement(1337) | - | g, a | dbSNP:117759717 |
| complement(1396) | - | t, c | dbSNP:77960754 |
| Gene Symbol | EPYC |
| Gene Synonym | DSPG3; Pg-Lb; PGLB; SLRR3B |
| Chromosome | 12 |
| Locus Map | 12q21 |
| All Transcripts | NM_004950 |
| Title | Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC . |
| Author | Aldave,A.J., Rosenwasser,G.O., Yellore,V.S., Papp,J.C., Sobel,E.M., Pham,M.N., Chen,M.C., Dandekar,S., Sripracha,R., Rayner,S.A., Sassani,J.W. and Gorin,M.B. |
| Journal | Invest. Ophthalmol. Vis. Sci. 51 (8), 4006-4012 (2010) |
| Title | The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients . |
| Author | Chen,Z.T., Wang,I.J., Shih,Y.F. and Lin,L.L. |
| Journal | Ophthalmology 116 (10), 1920-1927 (2009) |
| Title | An evaluation of OPTC and EPYC as candidate genes for high myopia . |
| Author | Wang,P., Li,S., Xiao,X., Guo,X. and Zhang,Q. |
| Journal | Mol. Vis. 15, 2045-2049 (2009) |
| Title | Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2 . |
| Author | Aldave,A.J., Sonmez,B., Bourla,N., Schultz,G., Papp,J.C., Salem,A.K., Rayner,S.A. and Yellore,V.S. |
| Journal | Ophthalmic Genet. 28 (2), 57-67 (2007) |
| Title | The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan . |
| Author | Wang,I.J., Chiang,T.H., Shih,Y.F., Hsiao,C.K., Lu,S.C., Hou,Y.C. and Lin,L.L. |
| Journal | Mol. Vis. 12, 852-857 (2006) |
| Title | Genomic characterization of human DSPG3 . |
| Author | Deere,M., Dieguez,J.L., Yoon,S.J., Hewett-Emmett,D., de la Chapelle,A. and Hecht,J.T. |
| Journal | Genome Res. 9 (5), 449-456 (1999) |
| Title | Characterization of human DSPG3, a small dermatan sulfate proteoglycan . |
| Author | Deere,M., Johnson,J., Garza,S., Harrison,W.R., Yoon,S.J., Elder,F.F., Kucherlapati,R., Hook,M. and Hecht,J.T. |
| Journal | Genomics 38 (3), 399-404 (1996) |
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