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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_177986 Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. ORF Sequence $1093.05
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_177986.3, 259155289
Length 3580 bp
Structure linear
Update Date 14-APR-2013
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
84+a, gdbSNP:112493254
93+a, 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
184+dbSNP:
184+a, gdbSNP:142998813
199+a, cdbSNP:151113472
235+dbSNP:
235+a, gdbSNP:201146453
248+c, gdbSNP:139940348
301+a, gdbSNP:200219673
307+c, tdbSNP:149672864
356+dbSNP:
356+c, gdbSNP:145443659
366+a, cdbSNP:200935383
371+c, tdbSNP:36040686
381+a, gdbSNP:145324949
383+c, tdbSNP:146500402
393+a, gdbSNP:16959856
533+dbSNP:
533+a, gdbSNP:143110911
536+a, gdbSNP:186165345
552+c, gdbSNP:76399598
569+c, tdbSNP:138080453
595+a, gdbSNP:13381457
609+g, tdbSNP:201177179
619+c, tdbSNP:200217327
630+c, tdbSNP:9956865
680+dbSNP:
680+c, tdbSNP:150197083
709+c, tdbSNP:267606775
730+a, gdbSNP:139019059
744+a, gdbSNP:199699049
758+c, tdbSNP:150614630
765+c, tdbSNP:147482052
791+g, tdbSNP:140124587
813+c, tdbSNP:149615937
825+dbSNP:
825+c, tdbSNP:144324362
850+a, gdbSNP:146853509
924+c, tdbSNP:148802079
935+c, gdbSNP:267606776
937+a, cdbSNP:28380082
951+g, tdbSNP:142450563
957..958+dbSNP:
957..958+, cdbSNP:34413638
990+a, gdbSNP:35210710
1000+c, tdbSNP:267606777
1032+c, tdbSNP:139090943
1054+g, tdbSNP:144066292
1065+c, tdbSNP:146457133
1090+a, gdbSNP:140750904
1115+a, gdbSNP:149724713
1160+dbSNP:
1160+c, tdbSNP:112376128
1163+c, tdbSNP:148911860
1215+c, tdbSNP:200590887
1224+c, tdbSNP:192864615
1237+a, cdbSNP:76349777
1253+a, gdbSNP:201719326
1260+a, cdbSNP:202014315
1263+c, tdbSNP:143590546
1272+g, tdbSNP:145078681
1304+c, tdbSNP:200596561
1314+a, tdbSNP:199759391
1315+a, gdbSNP:190458670
1333+a, gdbSNP:35378785
1334+a, gdbSNP:201015162
1343+g, tdbSNP:199903416
1399+a, gdbSNP:147025179
1451+dbSNP:
1451+c, tdbSNP:113255372
1509+c, tdbSNP:183098705
1510+a, cdbSNP:186800131
1516+a, tdbSNP:201075021
1533+a, tdbSNP:191272540
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
1739+c, tdbSNP:7229252
1779+dbSNP:
1779+a, gdbSNP:143991666
1786+c, tdbSNP:145931072
1790+a, cdbSNP:200288878
1867+c, tdbSNP:113450288
1875+a, gdbSNP:142106072
1888+c, tdbSNP:151203009
1905+a, tdbSNP:140290901
1907+a, gdbSNP:145317190
1910+a, gdbSNP:147643313
1936+a, gdbSNP:201170903
2008+a, tdbSNP:189298279
2018+c, tdbSNP:199549093
2036+a, gdbSNP:142245695
2065+a, cdbSNP:4799570
2139+dbSNP:
2139+c, tdbSNP:138281974
2140+c, tdbSNP:149173154
2154+c, tdbSNP:143288405
2155+a, gdbSNP:148361508
2180+a, gdbSNP:141527195
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
2398+a, gdbSNP:11874681
2401+g, tdbSNP:145949758
2428+a, gdbSNP:61734847
2440+a, tdbSNP:200571863
2454+a, cdbSNP:201325631
2498+dbSNP:
2498+a, gdbSNP:149705205
2501+c, tdbSNP:144490546
2512+a, gdbSNP:200463781
2522+g, tdbSNP:148418252
2526+a, cdbSNP:112653254
2569+a, gdbSNP:199797328
2577+c, tdbSNP:73410297
2584+g, tdbSNP:147606211
2588+c, tdbSNP:140646302
2652+a, gdbSNP:144494183
2658+a, gdbSNP:151048983
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
2835+a, gdbSNP:145810637
2840+a, gdbSNP:138401334
2856+c, gdbSNP:143087006
2866+c, tdbSNP:145159063
2869+a, gdbSNP:148204447
2883+a, gdbSNP:12960081
2912+a, gdbSNP:150706241
2917+c, tdbSNP:201883874
2930+a, gdbSNP:139102330
2944+a, gdbSNP:143509440
2949+a, gdbSNP:147200180
3000+g, tdbSNP:140503628
3020+c, tdbSNP:201635969
3036+a, gdbSNP:151254406
3043+a, gdbSNP:145637974
3070+a, cdbSNP:148470051
3071+a, tdbSNP:112548402
3080+c, tdbSNP:140423185
3155+c, tdbSNP:145343712
3158+a, gdbSNP:151238705
3184+a, gdbSNP:186256193
3201+a, c, tdbSNP:7234288
3204+a, gdbSNP:60800275
3226+c, tdbSNP:147705128
3239+c, tdbSNP:142409056
3240+a, gdbSNP:200908109
3289+c, tdbSNP:7234333
3329+a, gdbSNP:57543172
3384+a, gdbSNP:59818622
3395+a, tdbSNP:190629788
3398+a, gdbSNP:73953142
3446+a, tdbSNP:184009584
3514+c, tdbSNP:138873160
Gene SymbolDSG4
Gene SynonymCDGF13; CDHF13; LAH
Chromosome18
Locus Map18q12.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001134453 Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. Full Length $1272.95
ORF Sequence $1113.00
NM_177986 Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA. Full Length $1253.00
ORF Sequence $1093.05
Title Desmoglein as a target in skin disease and beyond .
Author Amagai,M. and Stanley,J.R.
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,C.S., Barber,A.G., Awgulewitsch,A., Kopan,R. and Christiano,A.M.
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,X.Y., Li,J.Y. and Ran,Y.P.
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,D.A. 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,N.V. 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,J.P., Martinez-Mir,A., O'Shaughnessy,R., Mahoney,M.G., Levy,M., Montagutelli,X., Ahmad,W., Aita,V.M., Gordon,D., Uitto,J., Whiting,D., Ott,J., Fischer,S., Gilliam,T.C., Jahoda,C.A., Morris,R.J., Panteleyev,A.A., Nguyen,V.T. and Christiano,A.M.
Journal Cell 113 (2), 249-260 (2003)
Title Genetic evidence for a novel human desmosomal cadherin, desmoglein 4 .
Author Whittock,N.V. and Bower,C.
Journal J. Invest. Dermatol. 120 (4), 523-530 (2003)

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