LOCUS       NM_177986               4572 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens desmoglein 4 (DSG4), transcript variant 2, mRNA.
ACCESSION   NM_177986
VERSION     NM_177986.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4572)
  AUTHORS   Zhou,C., Wang,P., Yang,D., Liao,W., Guo,Q., Li,J., Wen,G.,
            Zheng,S., Zhang,X., Wang,R. and Zhang,J.
  TITLE     Autosomal recessive monilethrix: Novel variants of the DSG4 gene in
            three Chinese families
  JOURNAL   Mol Genet Genomic Med 10 (4), e1889 (2022)
   PUBMED   35146972
  REMARK    GeneRIF: Autosomal recessive monilethrix: Novel variants of the
            DSG4 gene in three Chinese families.
REFERENCE   2  (bases 1 to 4572)
  AUTHORS   Moreno-Sosa,T., Sanchez,M.B., Pietrobon,E.O., Fernandez-Munoz,J.M.,
            Zoppino,F.C.M., Neira,F.J., Germano,M.J., Cargnelutti,D.E.,
            Innocenti,A.C., Jahn,G.A., Valdez,S.R. and Mackern-Oberti,J.P.
  TITLE     Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats
            While Psoriasis Patients Displayed a Decreased Gene Expression of
            DSG4
  JOURNAL   Front Immunol 12, 625617 (2021)
   PUBMED   33995349
  REMARK    GeneRIF: Desmoglein-4 Deficiency Exacerbates Psoriasiform
            Dermatitis in Rats While Psoriasis Patients Displayed a Decreased
            Gene Expression of DSG4.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4572)
  AUTHORS   Cohen-Barak,E., Danial-Farran,N., Hammad,H., Aleme,O., Krauz,J.,
            Gavish,E., Khayat,M., Ziv,M. and Shalev,S.
  TITLE     Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis
            Pilaris Atrophicans
  JOURNAL   Acta Derm Venereol 98 (8), 809-810 (2018)
   PUBMED   29796690
  REMARK    GeneRIF: Case Report: autosomal recessive keratosis pilaris
            atrophicans caused by mutation in DSG4.
REFERENCE   4  (bases 1 to 4572)
  AUTHORS   Wang,J.M., Xiao,Y.J. and Liang,Y.H.
  TITLE     Novel D323G mutation of DSG4 gene in a girl with localized
            autosomal recessive hypotrichosis clinically overlapped with
            monilethrix
  JOURNAL   Int J Dermatol 54 (10), 1163-1168 (2015)
   PUBMED   26173648
REFERENCE   5  (bases 1 to 4572)
  AUTHORS   Kato,M., Shimizu,A., Yokoyama,Y., Kaira,K., Shimomura,Y.,
            Ishida-Yamamoto,A., Kamei,K., Tokunaga,F. and Ishikawa,O.
  TITLE     An autosomal recessive mutation of DSG4 causes monilethrix through
            the ER stress response
  JOURNAL   J Invest Dermatol 135 (5), 1253-1260 (2015)
   PUBMED   25615553
REFERENCE   6  (bases 1 to 4572)
  AUTHORS   Nagasaka,T., Nishifuji,K., Ota,T., Whittock,N.V. and Amagai,M.
  TITLE     Defining the pathogenic involvement of desmoglein 4 in pemphigus
            and staphylococcal scalded skin syndrome
  JOURNAL   J Clin Invest 114 (10), 1484-1492 (2004)
   PUBMED   15545999
  REMARK    GeneRIF: DSG4 is pathogenic in pemphigus and staphylococcal scalded
            skin syndrome.
REFERENCE   7  (bases 1 to 4572)
  AUTHORS   Moss,C., Martinez-Mir,A., Lam,H., Tadin-Strapps,M., Kljuic,A. and
            Christiano,A.M.
  TITLE     A recurrent intragenic deletion in the desmoglein 4 gene underlies
            localized autosomal recessive hypotrichosis
  JOURNAL   J Invest Dermatol 123 (3), 607-610 (2004)
   PUBMED   15304105
REFERENCE   8  (bases 1 to 4572)
  AUTHORS   Rafiq,M.A., Ansar,M., Mahmood,S., Haque,S., Faiyaz-ul-Haque,M.,
            Leal,S.M. and Ahmad,W.
  TITLE     A recurrent intragenic deletion mutation in DSG4 gene in three
            Pakistani families with autosomal recessive hypotrichosis
  JOURNAL   J Invest Dermatol 123 (1), 247-248 (2004)
   PUBMED   15191570
REFERENCE   9  (bases 1 to 4572)
  AUTHORS   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.
  TITLE     Desmoglein 4 in hair follicle differentiation and epidermal
            adhesion: evidence from inherited hypotrichosis and acquired
            pemphigus vulgaris
  JOURNAL   Cell 113 (2), 249-260 (2003)
   PUBMED   12705872
  REMARK    GeneRIF: The essential role of desmoglein 4 in skin was established
            by identifying mutations in families with inherited hypotrichosis,
            as well as in the lanceolate hair mouse. We also show that DSG4 is
            an autoantigen in pemphigus vulgaris.
REFERENCE   10 (bases 1 to 4572)
  AUTHORS   Whittock,N.V. and Bower,C.
  TITLE     Genetic evidence for a novel human desmosomal cadherin, desmoglein
            4
  JOURNAL   J Invest Dermatol 120 (4), 523-530 (2003)
   PUBMED   12648213
  REMARK    GeneRIF: the human desmoglein 4 gene (DSG4) demonstrates that it is
            composed of 16 exons spanning approximately 37 kb of 18q12 and is
            situated between DSG1 and DSG3.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY177664.1, BC039098.1 and
            AC021549.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_177986.4.
            
            Summary: This gene encodes a member of the desmoglein subgroup of
            desmosomal cadherins. The encoded preproprotein is proteolytically
            processed to generate the mature protein. This protein is a
            transmembrane component of 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
            monilethrix, characterized by impaired hair growth. [provided by
            RefSeq, May 2016].
            
            Transcript Variant: This variant (2) represents the shorter
            transcript and encodes the shorter isoform (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY177664.1, BC132907.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2145893,
                                           SAMEA2147596 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308128.9/ ENSP00000311859.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3538              AY177664.1         1-3538
            3539-4451           BC039098.1         1355-2267
            4452-4452           AC021549.9         94879-94879         c
            4453-4572           BC039098.1         2269-2388
FEATURES             Location/Qualifiers
     source          1..4572
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4572
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /note="desmoglein 4"
                     /db_xref="GeneID:147409"
                     /db_xref="HGNC:HGNC:21307"
                     /db_xref="MIM:607892"
     exon            1..183
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..3258
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2; cadherin family member 13"
                     /codon_start=1
                     /product="desmoglein-4 isoform 2 preproprotein"
                     /protein_id="NP_817123.1"
                     /db_xref="CCDS:CCDS11897.1"
                     /db_xref="GeneID:147409"
                     /db_xref="HGNC:HGNC:21307"
                     /db_xref="MIM:607892"
                     /translation="MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTV
                     RRQKREWIKFAAACREGEDNSKRNPIAKIRSDCESNQKITYRISGVGIDRPPYGVFTI
                     NPRTGEINITSVVDREITPLFLIYCRALNSRGEDLERPLELRVKVMDINDNAPVFSQS
                     VYTASIEENSDANTLVVKLCATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEV
                     CTMSSFLDREQHSMYNLVVRGSDRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSA
                     SIEENCLSSELIRLQAIDLDEEGTDNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVV
                     KMLDYEQAPNIQLSIGVKNQADFHYSVASQFQMHPTPVRIQVVDVREGPAFHPSTMAF
                     SVREGIKGSSLLNYVLGTYTAIDLDTGNPATDVRYIIGHDAGSWLKIDSRTGEIQFSR
                     EFDKKSKYIINGIYTAEILAIDDGSGKTATGTICIEVPDINDYCPNIFPERRTICIDS
                     PSVLISVNEHSYGSPFTFCVVDEPPGIADMWDVRSTNATSAILTAKQVLSPGFYEIPI
                     LVKDSYNRACELAQMVQLYACDCDDNHMCLDSGAAGIYTEDITGDTYGPVTEDQAGVS
                     NVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQPEGLGTRFAPVPEGGEGVMQSWR
                     IEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYAAGGTVEGGVSGVELNTGMGT
                     AVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLDSYFSEKAYAYADEDEGRP
                     ANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKFRTLAEICLNTEIEPFP
                     SHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPVVHGDIIVTETYGNA
                     DPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYNNVIYAERVLASP
                     GVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGSTSPMTSRHRVT
                     RYSNIHYTQQ"
     exon            184..219
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            220..351
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            352..507
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            508..652
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            653..819
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            820..954
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1140
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1412
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1552
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1771
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..2068
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            2069..2208
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            2209..2272
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            2273..2490
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     exon            2491..4572
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4533..4538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /note="hexamer: AATAAA"
     polyA_site      4572
                     /gene="DSG4"
                     /gene_synonym="CDGF13; CDHF13; HYPT6; LAH"
                     /note="major polyA site"
ORIGIN      
        1 caccacagtt atcacccatg ccctcctaaa agggtgtctc aaagcatatc tttctgtaga
       61 gcagaattcg gaactgagaa gacgagggct caaattgaat ctcacaggat ttgcgtgcaa
      121 gagaaaccca aaggaatgga ttggctcttc ttcagaaaca tttgcctttt gatcattcta
      181 atggtggtga tggaagtaaa cagtgaattt attgttgagg tgaaggaatt tgacattgaa
      241 aatggcacta caaaatggca aacagtcaga agacaaaagc gggagtggat caagtttgcc
      301 gcagcctgtc gagaaggaga ggacaactcg aagaggaacc ccattgccaa aattcgatca
      361 gactgcgaat cgaaccagaa gataacatac cggatttctg gagtagggat tgatcgacca
      421 ccatatgggg tattcaccat taatcctcgc actggggaaa ttaacatcac ttcagtggta
      481 gacagagaaa taactccact tttcttgatc tattgccggg ctctgaattc acggggtgaa
      541 gatttagaaa ggcctcttga gcttagagtc aaagttatgg acataaatga taacgctcca
      601 gtcttttcgc aaagtgtata cacagccagc attgaagaaa atagtgatgc caatacattg
      661 gtagtaaagt tatgtgccac agatgcagat gaagaaaatc atctgaattc taaaattgcc
      721 tacaagatcg tctctcagga gccatcaggt gcacccatgt tcattctgaa taggtacact
      781 ggagaagtct gcaccatgtc cagtttcttg gacagagagc aacacagtat gtacaacctg
      841 gttgtgagag gctcagatcg ggatggagct gcagatggac tgtcttctga gtgtgactgt
      901 agaatcaagg ttttagacgt caacgataat ttccccacct tagagaaaac ttcatactca
      961 gccagtattg aagagaattg tttaagttcg gaactgatac gattacaagc aattgatctt
     1021 gatgaagaag gcactgataa ctggttggct caatatttaa ttctctctgg aaatgatggg
     1081 aattggttcg atattcaaac agatccacaa accaatgaag gcattttgaa agttgtcaag
     1141 atgctggatt atgaacaagc acctaacatt cagcttagta tcggagttaa aaaccaagct
     1201 gattttcact actccgttgc ttctcaattc caaatgcacc caacccctgt gagaattcaa
     1261 gttgttgatg tgagagaagg acctgcattt catccaagta ctatggcttt tagtgtgcgg
     1321 gaaggaataa aaggaagttc cttattgaat tatgtgcttg gcacatatac agccatagat
     1381 ttggacacag gaaaccctgc aacagatgtc agatatatca tagggcatga tgcaggcagc
     1441 tggttaaaaa ttgattcaag aactggtgag atacaatttt ctagagaatt tgataagaag
     1501 tcaaaatata ttatcaatgg gatatacaca gcagagatcc tggctataga tgatggctct
     1561 ggaaaaacag ctacaggaac catatgtatt gaggttcctg atatcaatga ttattgtcca
     1621 aacatttttc ctgaaagaag aaccatctgc attgactctc catcagtcct tatctctgtt
     1681 aatgaacatt cttatgggtc tccgtttact ttctgtgttg ttgatgagcc accaggaata
     1741 gctgacatgt gggatgtcag atcaacaaat gctacctcgg caatccttac ggctaagcag
     1801 gttttatctc caggatttta tgaaatccca atcctggtga aggacagcta taacagagca
     1861 tgtgaattgg cacaaatggt gcagttatat gcctgtgatt gcgatgacaa ccacatgtgc
     1921 ctggactctg gtgccgcggg catctacaca gaggacataa ctggtgacac gtatgggcct
     1981 gtcactgaag accaagctgg agtttcaaat gttggtcttg gaccagcagg gattggcatg
     2041 atggttctgg gcatcctgct actgattttg gctccactct tgctgctcct gtgttgctgc
     2101 aaacagagac agccagaagg cctgggaaca agatttgctc ctgtgcctga gggcggagaa
     2161 ggagtgatgc agtcttggag aattgaaggg gcccatcccg aggacaggga tgtgtcaaat
     2221 atatgtgcac ccatgacagc ctcaaatacc caggatcgga tggattcctc tgaaatctac
     2281 accaacacct atgcagccgg gggcacggtg gaaggaggtg tatcgggagt ggagctcaac
     2341 acaggtatgg ggacagccgt tggcctcatg gccgcagggg ccgcaggagc ctcaggggcc
     2401 gcaaggaaga ggagctctac catgggaacc ctgcgggact acgctgacgc agacatcaac
     2461 atggctttct tggacagcta cttctcggag aaagcgtatg cttatgcaga tgaagatgaa
     2521 ggtcgaccag ccaatgactg cttgctcatt tatgaccacg agggagtcgg gtctcccgta
     2581 ggctctattg gttgttgcag ttggattgtg gatgacttag atgaaagctg catggaaact
     2641 ttagatccaa aatttaggac tcttgctgag atctgcttaa acacagaaat tgaaccattt
     2701 ccttcacacc aggcttgtat accaatcagt actgacctcc ctttgctcgg acctaattac
     2761 tttgttaatg aatcttcagg attgactccc tcagaagttg aattccaaga agaaatggca
     2821 gcatctgaac ccgtggtcca tggggatatt attgtgactg agacttacgg taatgctgat
     2881 ccatgtgtgc aacccactac aattattttt gatcctcagc ttgcacccaa tgttgtagta
     2941 accgaagcag taatggcacc tgtctatgat attcaaggga atatttgtgt acctgctgag
     3001 ttagcagatt acaacaatgt aatctatgct gagagagtac tggctagtcc tggtgtgcct
     3061 gacatgagca atagtagcac gactgagggt tgtatgggac ctgtgatgag cggcaatatt
     3121 ttagtagggc cagaaattca agtgatgcaa atgatgagtc cagaccttcc cataggccaa
     3181 accgttggct ccacatcccc catgacatct cgacacagag taacacgata cagtaacata
     3241 cattacaccc aacagtaagt gctttatggt cagtattcta tgtggagacc ttgcaccttg
     3301 taatcatcaa tacatccacc aaaaatatat aatgtaccat atatattaat agtcaacaaa
     3361 tactcagata ttctaaggtc aatgccatta tttgattata ccattttgag ggtgaatatg
     3421 gctaggcact ttagataagc ctttttaaaa ttctttctga ttttaaataa tgcgtcaaaa
     3481 aatgtgcaga aaatgtattg catcccttga tactgtctaa cgaatagcac ataactcata
     3541 ttgtgaatcc tatgggtctt gaggcctgta gaaccaatct tgtaaaccaa gatgccttgt
     3601 tcttggaagt tacaaaagaa gccctgtcta catccaccag ccatattttt cgttagggaa
     3661 atatttatat taaaattttt aattgaaaag ttgaatgaaa tgtacattct gaaaggaaat
     3721 tgaaaaggaa cgtagagtat ctgtcaatat ctttagatat ctgaagtcat ttgtctcttc
     3781 aaaagatttt tcaatattat gcgctattaa gcaataggag atgcttaata taataagaaa
     3841 agagtttgcc aactgaaagc atggctggaa atggttcatc aaagaaaaat atatattttt
     3901 attgaacttt attgatttat atgattaact gtaaattaat ctagaatagc aaaaaaaaat
     3961 gacaatccta aagtagaaag agttattggg gaaatattag agttttcccc acttacaggg
     4021 aattttttcc ctactgttgc caattatgtc agaaaaatac atgaaatatg gcttaaccaa
     4081 tttcattgac ctgaatcgta gagctttcaa ttggcaacca gatattctcc aaaagcactc
     4141 tgtagttatt catatattct acaatattta cttagaagca actaggtgtt gggtgctagt
     4201 cttggctctg tgaatataca ggtaaagaag acagacatgg tttctgcctt catagagctt
     4261 ctattcattt ctagacttaa aataaaactc tgggatatgg ctttaagttc ctaacaacaa
     4321 taattaacca actacttaag tccattacca agttgtgttt ctctttgcaa cactactgtt
     4381 tatgttgaat aaataaaatg gaaacacatt gcttactttt cgtaggcata aagctgactt
     4441 gagaaaaaga atctctagcc aggtaatttt acttaattct gtaaaatatg tatacagtag
     4501 cagcaataat gtgactgaga taatgtaaat gaaataaact tattttcaag gcttaatcct
     4561 tttgaaagga aa
//
