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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22937 Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu22937C Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. Customized vector On-demand $1699.00 25

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_177986.3, 259155289
Length 3123 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA.
Product desmoglein-4 isoform 2 preproprotein
Comment

Summary: This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].


Transcript Variant: This variant (2) includes an additional exon and uses an alternate splice acceptor site located in the penultimate exon, compared to variant 1, resulting in a shorter protein isoform (2).

RefSeq NP_817123.1
CDS 136..3258
Misc Feature(1)319..594
Misc Feature(2)order(319..324,481..483,487..489,580..582,586..591)
Misc Feature(3)616..930
Misc Feature(4)order(637..642,811..813,817..819,916..918,922..927)
Misc Feature(5)952..1272
Misc Feature(6)order(973..978,1147..1149,1153..1155,1267..1269)
Misc Feature(7)1309..1611
Misc Feature(8)order(1321..1323,1336..1338,1492..1494,1498..1500,
Misc Feature(9)2029..2091
Misc Feature(10)<2506..2676
Misc Feature(11)2785..2862
Misc Feature(12)2863..2955
Exon (1)1..183
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (2)184..219
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (3)220..351
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (4)352..507
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (5)508..652
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (6)653..819
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (7)820..954
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (8)955..1140
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (9)1141..1412
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (10)1413..1552
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (11)1553..1771
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (12)1772..2068
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (13)2069..2208
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (14)2209..2272
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (15)2273..2490
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Exon (16)2491..3580
Gene:DSG4
Gene Synonym:CDGF13; CDHF13; LAH
Translation MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACRE GEDNSKRNPIAKIRSDCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREIT PLFLIYCRALNSRGEDLERPLELRVKVMDINDNAPVFSQSVYTASIEENSDANTLVVKLC ATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFLDREQHSMYNLVVRGS DRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGT DNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYS VASQFQMHPTPVRIQVVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGN PATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTAT GTICIEVPDINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWD VRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGA AGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQP EGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYA AGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLD SYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKF RTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPV VHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYN NVIYAERVLASPGVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGST SPMTSRHRVTRYSNIHYTQQ
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Position Chain Variation Link
3+dbSNP:
3+c, tdbSNP:184332862
35+a, tdbSNP:112913648
70+a, gdbSNP:142563540
83+c, tdbSNP:371565465
84+a, gdbSNP:112493254
93+a, c, gdbSNP:140773382
113+c, gdbSNP:143431088
120+a, gdbSNP:200979438
126+a, gdbSNP:146720169
138+a, gdbSNP:201887152
156+a, gdbSNP:75549650
165+c, tdbSNP:36101975
182+c, tdbSNP:372155276
184+dbSNP:
184+a, gdbSNP:142998813
215+c, tdbSNP:369208184
235+dbSNP:
235+a, gdbSNP:201146453
248+c, gdbSNP:139940348
292+a, gdbSNP:370177706
301+a, gdbSNP:200219673
307+c, tdbSNP:149672864
327+c, tdbSNP:374462685
356+dbSNP:
356+c, gdbSNP:145443659
366+a, c, tdbSNP:200935383
371+c, tdbSNP:36040686
381+a, gdbSNP:145324949
383+c, tdbSNP:146500402
392+a, gdbSNP:368463545
393+a, gdbSNP:16959856
448+c, tdbSNP:374554073
466+a, tdbSNP:368482528
510+dbSNP:
510+c, gdbSNP:368593554
533+a, gdbSNP:143110911
534+g, tdbSNP:371642087
536+a, gdbSNP:186165345
552+c, gdbSNP:76399598
569+c, tdbSNP:138080453
595+a, gdbSNP:13381457
608+c, tdbSNP:369555342
609+g, tdbSNP:201177179
619+c, tdbSNP:200217327
630+c, tdbSNP:9956865
680+dbSNP:
680+c, tdbSNP:150197083
709+c, tdbSNP:267606775
722+a, gdbSNP:369598361
725+a, gdbSNP:372838408
730+a, gdbSNP:139019059
744+a, gdbSNP:199699049
758+c, tdbSNP:150614630
765+c, tdbSNP:147482052
778+a, gdbSNP:377108804
791+g, tdbSNP:140124587
813+c, tdbSNP:149615937
825+dbSNP:
825+c, tdbSNP:144324362
838+c, tdbSNP:367712480
850+a, gdbSNP:146853509
924+c, tdbSNP:148802079
935+c, gdbSNP:267606776
937+a, cdbSNP:28380082
958..959+dbSNP:
958..959+, cdbSNP:34413638
990+a, gdbSNP:35210710
1000+c, tdbSNP:267606777
1032+c, tdbSNP:139090943
1065+c, tdbSNP:146457133
1090+a, gdbSNP:140750904
1102+a, gdbSNP:267605157
1115+a, gdbSNP:149724713
1126+c, tdbSNP:375185491
1152+dbSNP:
1152+c, tdbSNP:369018054
1160+c, tdbSNP:112376128
1163+c, tdbSNP:148911860
1215+c, tdbSNP:200590887
1216+a, gdbSNP:372942507
1224+c, tdbSNP:192864615
1237+a, cdbSNP:76349777
1253+a, gdbSNP:201719326
1260+a, cdbSNP:202014315
1263+c, tdbSNP:143590546
1272+g, tdbSNP:145078681
1284+c, tdbSNP:373813561
1304+c, tdbSNP:200596561
1314+a, tdbSNP:199759391
1315+a, gdbSNP:190458670
1318+c, tdbSNP:369125321
1333+a, gdbSNP:35378785
1334+a, gdbSNP:201015162
1343+g, tdbSNP:199903416
1345+c, tdbSNP:376174057
1352+a, gdbSNP:371158987
1376+c, tdbSNP:373405894
1399+a, gdbSNP:147025179
1429+dbSNP:
1429+c, gdbSNP:370221867
1451+c, tdbSNP:113255372
1509+c, tdbSNP:183098705
1510+a, cdbSNP:186800131
1516+a, tdbSNP:201075021
1533+a, tdbSNP:191272540
1538+c, tdbSNP:370459837
1554+dbSNP:
1554+a, tdbSNP:200268938
1562+a, gdbSNP:74896702
1605+c, gdbSNP:141875439
1615+c, tdbSNP:150676638
1622+a, gdbSNP:117510013
1631+c, tdbSNP:191806896
1651+a, gdbSNP:111954087
1661+c, tdbSNP:182031208
1674+c, tdbSNP:9945567
1703+c, tdbSNP:34620697
1704+a, gdbSNP:142117600
1715+a, gdbSNP:112942400
1728+g, tdbSNP:367853600
1739+c, tdbSNP:7229252
1779+dbSNP:
1779+a, gdbSNP:143991666
1786+c, tdbSNP:145931072
1790+a, cdbSNP:200288878
1829+c, tdbSNP:371449368
1867+c, tdbSNP:113450288
1875+a, gdbSNP:142106072
1888+c, tdbSNP:151203009
1903+a, gdbSNP:374710829
1905+a, tdbSNP:140290901
1907+a, gdbSNP:145317190
1910+a, gdbSNP:147643313
1920+c, tdbSNP:372835308
1936+a, gdbSNP:201170903
1937+c, tdbSNP:369630802
1948+a, gdbSNP:373504149
1978+c, tdbSNP:377017666
2008+a, tdbSNP:189298279
2018+c, tdbSNP:199549093
2036+a, gdbSNP:142245695
2065+a, cdbSNP:4799570
2096+dbSNP:
2096+c, gdbSNP:377479377
2140+c, tdbSNP:149173154
2154+c, tdbSNP:143288405
2177+a, gdbSNP:370866961
2180+a, gdbSNP:141527195
2200+g, tdbSNP:377271913
2204+a, gdbSNP:369802505
2205+c, tdbSNP:373308767
2226+dbSNP:
2226+g, tdbSNP:113413186
2236+a, tdbSNP:148959717
2239+a, gdbSNP:147049549
2240+c, tdbSNP:138483126
2257+c, tdbSNP:190106188
2301+dbSNP:
2301+a, gdbSNP:74755361
2325+a, c, gdbSNP:143025218
2335+c, gdbSNP:202122546
2359+g, tdbSNP:200939281
2362+a, gdbSNP:267605158
2369+g, tdbSNP:267605159
2390+a, cdbSNP:373810958
2398+a, gdbSNP:11874681
2401+g, tdbSNP:145949758
2428+a, gdbSNP:61734847
2440+a, tdbSNP:200571863
2454+a, cdbSNP:201325631
2480+a, gdbSNP:367701012
2498+dbSNP:
2498+a, gdbSNP:149705205
2501+c, tdbSNP:144490546
2512+a, gdbSNP:200463781
2522+g, tdbSNP:148418252
2526+a, cdbSNP:112653254
2541+c, tdbSNP:371162495
2560+a, gdbSNP:369987317
2569+a, gdbSNP:199797328
2577+c, tdbSNP:73410297
2578+a, gdbSNP:369634548
2584+g, tdbSNP:147606211
2588+c, tdbSNP:140646302
2636+a, gdbSNP:373931103
2652+a, gdbSNP:144494183
2658+a, gdbSNP:151048983
2670+a, gdbSNP:376872226
2683+a, gdbSNP:370458597
2723+c, tdbSNP:373617984
2724+a, cdbSNP:148491546
2749+a, gdbSNP:150183241
2773+a, tdbSNP:142656757
2787+c, tdbSNP:201614404
2788+c, tdbSNP:200412706
2825+a, cdbSNP:199763259
2833+a, g, tdbSNP:140587103
2840+a, gdbSNP:138401334
2856+c, gdbSNP:143087006
2866+c, tdbSNP:145159063
2869+a, gdbSNP:148204447
2883+a, gdbSNP:12960081
2912+a, gdbSNP:150706241
2913+c, tdbSNP:372602864
2917+c, tdbSNP:201883874
2930+a, gdbSNP:139102330
2931+g, tdbSNP:373510855
2944+a, gdbSNP:143509440
2949+a, gdbSNP:147200180
2950+a, gdbSNP:368083534
3000+g, tdbSNP:140503628
3001+c, tdbSNP:370593006
3020+c, tdbSNP:201635969
3036+a, gdbSNP:151254406
3036+a, gdbSNP:386467807
3043+a, gdbSNP:145637974
3071+a, tdbSNP:112548402
3080+c, tdbSNP:140423185
3139+c, tdbSNP:267605160
3152+a, tdbSNP:371019610
3155+c, tdbSNP:145343712
3158+a, gdbSNP:151238705
3173+c, tdbSNP:375832894
3184+a, gdbSNP:186256193
3201+a, c, tdbSNP:7234288
3204+a, gdbSNP:60800275
3204+c, tdbSNP:386441026
3226+c, tdbSNP:147705128
3227+a, gdbSNP:372042028
3239+c, tdbSNP:142409056
3240+a, gdbSNP:200908109
3289+c, tdbSNP:7234333
3303+a, gdbSNP:372851185
3329+a, gdbSNP:57543172
3384+a, gdbSNP:59818622
3395+a, tdbSNP:190629788
3398+a, gdbSNP:73953142
3446+a, tdbSNP:184009584
3514+c, tdbSNP:138873160
3552+a, gdbSNP:373717956
Gene SymbolDSG4
Gene SynonymCDGF13; CDHF13; LAH
Chromosome18
Locus Map18q12.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_177986 Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. On-demand $1699.00 25
NM_177986 Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. On-demand $1699.00 25
Title Desmoglein as a target in skin disease and beyond .
Author Amagai M and Stanley JR.
Journal J. Invest. Dermatol. 132 (3 PT 2), 776-784 (2012)
Title Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation .
Author Bazzi H, Demehri S, Potter CS, Barber AG, Awgulewitsch A, Kopan R and Christiano AM.
Journal Differentiation 78 (5), 292-300 (2009)
Title Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family .
Author Wajid,M., Bazzi,H., Rockey,J., Lubetkin,J., Zlotogorski,A. and Christiano,A.M.
Journal J. Invest. Dermatol. 127 (7), 1779-1782 (2007)
Title [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris] .
Author Li W, Feng Y, Lu XY, Li JY and Ran YP.
Journal Sichuan Da Xue Xue Bao Yi Xue Ban 38 (1), 84-87 (2007)
Title An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis .
Author Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA and Pras E.
Journal J. Invest. Dermatol. 126 (6), 1292-1296 (2006)
Title Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndrome .
Author Nagasaka T, Nishifuji K, Ota T, Whittock NV and Amagai M.
Journal J. Clin. Invest. 114 (10), 1484-1492 (2004)
Title A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis .
Author Moss,C., Martinez-Mir,A., Lam,H., Tadin-Strapps,M., Kljuic,A. and Christiano,A.M.
Journal J. Invest. Dermatol. 123 (3), 607-610 (2004)
Title A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis .
Author Rafiq,M.A., Ansar,M., Mahmood,S., Haque,S., Faiyaz-ul-Haque,M., Leal,S.M. and Ahmad,W.
Journal J. Invest. Dermatol. 123 (1), 247-248 (2004)
Title Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris .
Author Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT and Christiano AM.
Journal Cell 113 (2), 249-260 (2003)
Title Genetic evidence for a novel human desmosomal cadherin, desmoglein 4 .
Author Whittock NV and Bower C.
Journal J. Invest. Dermatol. 120 (4), 523-530 (2003)

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