Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA.
| RefSeq Version | NM_177986.3, 259155289 |
| Length | 3580 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| 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]. 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 | Exon (1) | 1..183 | Exon (2) | 1..183 | Exon (3) | 184..219 | Exon (4) | 220..351 | Exon (5) | 352..507 | Exon (6) | 508..652 | Exon (7) | 653..819 | Exon (8) | 820..954 | Exon (9) | 955..1140 | Exon (10) | 1141..1412 | Exon (11) | 1413..1552 | Exon (12) | 1553..1771 | Exon (13) | 1772..2068 | Exon (14) | 2069..2208 | Exon (15) | 2209..2272 | Exon (16) | 2273..2490 | Exon (17) | 2491..3580 |
| Translation | MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACRE
GEDNSKRNPIAKIRSDCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREIT
PLFLIYCRALNSRGEDLERPLELRVKVMDINDNAPVFSQSVYTASIEENSDANTLVVKLC
ATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFLDREQHSMYNLVVRGS
DRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGT
DNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYS
VASQFQMHPTPVRIQVVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGN
PATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTAT
GTICIEVPDINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWD
VRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGA
AGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQP
EGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYA
AGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLD
SYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKF
RTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPV
VHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYN
NVIYAERVLASPGVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGST
SPMTSRHRVTRYSNIHYTQQ
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| Gene Symbol | DSG4 |
| Gene Synonym | CDGF13; CDHF13; LAH |
| Chromosome | 18 |
| Locus Map | 18q12.1 |
| All Transcripts | NM_177986 , NM_001134453 |
| 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 | Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions . |
| Author | Schaffer,J.V., Bazzi,H., Vitebsky,A., Witkiewicz,A., Kovich,O.I., Kamino,H., Shapiro,L.S., Amin,S.P., Orlow,S.J. and Christiano,A.M. |
| Journal | J. Invest. Dermatol. 126 (6), 1286-1291 (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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