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Homo sapiens epiphycan (EPYC), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004950 Homo sapiens epiphycan (EPYC), mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_004950.4, 223941903
Length 1553 bp
Structure linear
Update Date 16-MAR-2014
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, Jul 2008].


##Evidence-Data-START## Transcript exon combination :: BC030958.1, U59111.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025087, ERS025092 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length.

RefSeq NP_004941.2
CDS 94..1062
Misc Feature(1)88..90
Misc Feature(2)88..90
Misc Feature(3)454..528
Misc Feature(4)523..588
Misc Feature(5)544..702
Misc Feature(6)<592..903
Misc Feature(7)595..660
Misc Feature(8)order(619..621,691..693,829..831,883..885,889..891)
Misc Feature(9)667..732
Misc Feature(10)724..903
Misc Feature(11)805..867
Misc Feature(12)868..933
Misc Feature(13)961..1023
Exon (1)1..80
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Exon (2)81..258
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Exon (3)259..433
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Exon (4)434..592
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Exon (5)593..795
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Exon (6)796..891
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Exon (7)892..1539
Gene:EPYC
Gene Synonym:DSPG3; Pg-Lb; PGLB; SLRR3B
Translation MKTLAGLVLGLVIFDAAVTAPTLESINYDSETYDATLEDLDNLYNYENIPVDKVEIEIAT VMPSGNRELLTPPPQPEKAQEEEEEEESTPRLIDGSSPQEPEFTGVLGPHTNEDFPTCLL CTCISTTVYCDDHELDAIPPLPKNTAYFYSRFNRIKKINKNDFASLSDLKRIDLTSNLIS EIDEDAFRKLPQLRELVLRDNKIRQLPELPTTLTFIDISNNRLGRKGIKQEAFKDMYDLH HLYLTDNNLDHIPLPLPENLRALHLQNNNILEMHEDTFCNVKNLTYIRKALEDIRLDGNP INLSKTPQAYMCLPRLPVGSLV
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Position Chain Variation Link
complement(4)-dbSNP:
complement(4)-c, adbSNP:10777279
complement(15)-t, cdbSNP:192496687
complement(41)-g, cdbSNP:113814381
complement(56)-g, adbSNP:187150108
complement(120)-g, cdbSNP:377503392
complement(139)-t, cdbSNP:201528697
complement(140)-t, gdbSNP:201811365
complement(155..156)-, gdbSNP:35141815
complement(167)-t, gdbSNP:142841602
complement(189)-t, gdbSNP:76171854
complement(192)-g, adbSNP:375750656
complement(228)-g, adbSNP:372120077
complement(233)-t, gdbSNP:141571083
complement(238)-t, cdbSNP:115626888
complement(239)-g, adbSNP:368412419
complement(244)-t, cdbSNP:367913137
complement(245)-g, adbSNP:116545939
complement(248)-t, cdbSNP:17852857
complement(341)-dbSNP:
complement(341)-t, cdbSNP:34037526
complement(347)-t, cdbSNP:137968283
complement(407)-t, cdbSNP:115633176
complement(435)-dbSNP:
complement(435)-g, cdbSNP:202056300
complement(446)-g, cdbSNP:367798335
complement(452)-c, adbSNP:369730127
complement(500)-t, gdbSNP:183846621
complement(504)-g, adbSNP:150301480
complement(508)-t, gdbSNP:140043768
complement(512)-g, adbSNP:190547958
complement(518)-g, adbSNP:187299979
complement(522)-t, cdbSNP:115968659
complement(528)-g, adbSNP:151128680
complement(535)-g, adbSNP:373463291
complement(542)-g, cdbSNP:17784152
complement(543)-g, adbSNP:199845057
complement(544)-g, adbSNP:114231682
complement(630)-dbSNP:
complement(630)-t, gdbSNP:34062416
complement(646)-g, cdbSNP:146839750
complement(655)-g, adbSNP:143768297
complement(656)-c, adbSNP:371907646
complement(688)-t, gdbSNP:140084607
complement(712)-g, adbSNP:144263793
complement(731)-t, cdbSNP:386518108
731+c, tdbSNP:1135866
complement(745)-t, cdbSNP:149984693
complement(749)-t, cdbSNP:139254082
complement(796)-dbSNP:
complement(796)-t, cdbSNP:116772978
complement(839)-t, adbSNP:150809530
complement(861)-g, adbSNP:114357917
complement(874)-g, adbSNP:374036301
complement(879)-g, cdbSNP:373217583
complement(894)-dbSNP:
complement(894)-t, g, adbSNP:114893153
complement(915)-g, cdbSNP:142875982
complement(916)-t, cdbSNP:138857092
complement(923)-g, c, adbSNP:34988585
935+g, tdbSNP:1135867
complement(945)-g, cdbSNP:116446912
complement(969)-t, cdbSNP:148008224
complement(991)-g, cdbSNP:374304883
1014+a, tdbSNP:1135869
complement(1019)-t, gdbSNP:115903918
complement(1036)-g, adbSNP:148834797
complement(1057)-g, cdbSNP:138373628
complement(1063)-c, adbSNP:372412930
complement(1073)-g, adbSNP:192133142
complement(1085)-g, adbSNP:201241116
complement(1088)-g, adbSNP:202019480
complement(1202..1203)-, ttatadbSNP:397821236
complement(1202)-t, adbSNP:75990266
complement(1206..1207)-, ttatadbSNP:386377341
complement(1207..1208)-, attat, ttatadbSNP:3047073
complement(1208..1209)-, attatdbSNP:5799968
complement(1287)-g, cdbSNP:370565821
complement(1337)-g, adbSNP:117759717
complement(1396)-t, cdbSNP:77960754
complement(1405)-g, cdbSNP:188412909
Gene SymbolEPYC
Gene SynonymDSPG3; Pg-Lb; PGLB; SLRR3B
Chromosome12
Locus Map12q21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004950 Homo sapiens epiphycan (EPYC), mRNA. On-demand $549.00 14
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 AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW and Gorin MB.
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 ZT, Wang IJ, Shih YF and Lin LL.
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 AJ, Sonmez B, Bourla N, Schultz G, Papp JC, Salem AK, Rayner
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 IJ, Chiang TH, Shih YF, Hsiao CK, Lu SC, Hou YC and Lin LL.
Journal Mol. Vis. 12, 852-857 (2006)
Title Genomic characterization of human DSPG3 .
Author Deere M, Dieguez JL, Yoon SJ, Hewett-Emmett D, de la Chapelle A and Hecht JT.
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 WR, Yoon SJ, Elder FF, Kucherlapati R, Hook M and Hecht JT.
Journal Genomics 38 (3), 399-404 (1996)

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