LOCUS       NM_001943               5697 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens desmoglein 2 (DSG2), mRNA.
ACCESSION   NM_001943
VERSION     NM_001943.5
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 5697)
  AUTHORS   Zhang,G., Chen,Z., Wang,Y., Huang,A., Nie,F., Gao,L., Wang,Y. and
            Ren,F.
  TITLE     Up-regulated DSG2 promotes tumor growth and reduces immune
            infiltration in cervical cancer
  JOURNAL   Pathol Res Pract 262, 155554 (2024)
   PUBMED   39226803
  REMARK    GeneRIF: Up-regulated DSG2 promotes tumor growth and reduces immune
            infiltration in cervical cancer.
REFERENCE   2  (bases 1 to 5697)
  AUTHORS   Zhang,B., Wu,Y., Zhou,C., Xie,J., Zhang,Y., Yang,X., Xiao,J.,
            Wang,D.W., Shan,C., Zhou,X., Xiang,Y. and Yang,B.
  TITLE     Hyperactivation of ATF4/TGF-beta1 signaling contributes to the
            progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy
            caused by DSG2 Variant
  JOURNAL   BMC Med 22 (1), 361 (2024)
   PUBMED   39227800
  REMARK    GeneRIF: Hyperactivation of ATF4/TGF-beta1 signaling contributes to
            the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy
            caused by DSG2 Variant.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5697)
  AUTHORS   Han,J.Y., Che,N., Mo,J., Zhang,D.F., Liang,X.H., Dong,X.Y.,
            Zhao,X.L. and Sun,B.C.
  TITLE     Desmoglein 2 and desmocollin 2 depletions promote malignancy
            through distinct mechanisms in triple-negative and luminal breast
            cancer
  JOURNAL   BMC Cancer 24 (1), 532 (2024)
   PUBMED   38671389
  REMARK    GeneRIF: Desmoglein 2 and desmocollin 2 depletions promote
            malignancy through distinct mechanisms in triple-negative and
            luminal breast cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5697)
  AUTHORS   Amagai,M. and Stanley,J.R.
  TITLE     Desmoglein as a target in skin disease and beyond
  JOURNAL   J Invest Dermatol 132 (3 Pt 2), 776-784 (2012)
   PUBMED   22189787
  REMARK    GeneRIF: Desmoglein 2, expressed earliest among the four isoforms
            in development, was found to be mutated in arrythmogenic right
            ventricular cardiomyopathy and is a receptor for a subset of
            adenoviruses that cause respiratory and urinary tract infections.
            Review article
REFERENCE   5  (bases 1 to 5697)
  AUTHORS   Simrak,D., Cowley,C.M., Buxton,R.S. and Arnemann,J.
  TITLE     Tandem arrangement of the closely linked desmoglein genes on human
            chromosome 18
  JOURNAL   Genomics 25 (2), 591-594 (1995)
   PUBMED   7790000
REFERENCE   6  (bases 1 to 5697)
  AUTHORS   Schafer,S., Koch,P.J. and Franke,W.W.
  TITLE     Identification of the ubiquitous human desmoglein, Dsg2, and the
            expression catalogue of the desmoglein subfamily of desmosomal
            cadherins
  JOURNAL   Exp Cell Res 211 (2), 391-399 (1994)
   PUBMED   8143788
REFERENCE   7  (bases 1 to 5697)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   8  (bases 1 to 5697)
  AUTHORS   McNally,E., MacLeod,H. and Dellefave-Castillo,L.
  TITLE     Arrhythmogenic Right Ventricular Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301310
REFERENCE   9  (bases 1 to 5697)
  AUTHORS   Arnemann,J., Spurr,N.K., Magee,A.I. and Buxton,R.S.
  TITLE     The human gene (DSG2) coding for HDGC, a second member of the
            desmoglein subfamily of the desmosomal cadherins, is, like DSG1
            coding for desmoglein DGI, assigned to chromosome 18
  JOURNAL   Genomics 13 (2), 484-486 (1992)
   PUBMED   1612610
REFERENCE   10 (bases 1 to 5697)
  AUTHORS   Koch,P.J., Goldschmidt,M.D., Walsh,M.J., Zimbelmann,R. and
            Franke,W.W.
  TITLE     Complete amino acid sequence of the epidermal desmoglein precursor
            polypeptide and identification of a second type of desmoglein gene
  JOURNAL   Eur J Cell Biol 55 (2), 200-208 (1991)
   PUBMED   1935985
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY268349.1, DC417739.1,
            BC099657.3, CN395083.1, BC022413.1, DR158777.1, BC014581.1 and
            BQ023247.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001943.4.
            
            Summary: This gene encodes a member of the desmoglein family and
            cadherin cell adhesion molecule superfamily of proteins.
            Desmogleins are calcium-binding transmembrane glycoprotein
            components of desmosomes, cell-cell junctions between epithelial,
            myocardial, and other cell types. The encoded preproprotein is
            proteolytically processed to generate the mature glycoprotein. This
            gene is present in a gene cluster with other desmoglein gene family
            members on chromosome 18. Mutations in this gene have been
            associated with arrhythmogenic right ventricular dysplasia,
            familial, 10. [provided by RefSeq, Jan 2016].
            
            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 :: AK308408.1, Z26317.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261590.13/ ENSP00000261590.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                HY268349.1         202-253             c
            53-625              DC417739.1         28-600
            626-3482            BC099657.3         562-3418
            3483-3927           CN395083.1         267-711
            3928-4375           BC022413.1         297-744
            4376-4961           DR158777.1         147-732
            4962-5540           BC014581.1         798-1376
            5541-5697           BQ023247.1         16-172              c
FEATURES             Location/Qualifiers
     source          1..5697
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..5697
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /note="desmoglein 2"
                     /db_xref="GeneID:1829"
                     /db_xref="HGNC:HGNC:3049"
                     /db_xref="MIM:125671"
     exon            1..120
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..3432
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /note="cadherin family member 5"
                     /codon_start=1
                     /product="desmoglein-2 preproprotein"
                     /protein_id="NP_001934.2"
                     /db_xref="CCDS:CCDS42423.1"
                     /db_xref="GeneID:1829"
                     /db_xref="HGNC:HGNC:3049"
                     /db_xref="MIM:125671"
                     /translation="MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHL
                     VRQKRAWITAPVALREGEDLSKKNPIAKIHSDLAEERGLKITYKYTGKGITEPPFGIF
                     VFNKDTGELNVTSILDREETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPVFT
                     QDVFVGSVEELSAAHTLVMKINATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTG
                     EIYTTSVTLDREEHSSYTLTVEARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKV
                     LEGMVEENQVNVEVTRIKVFDADEIGSDNWLANFTFASGNEGGYFHIETDAQTNEGIV
                     TLIKEVDYEEMKNLDFSVIVANKAAFHKSIRSKYKPTPIPIKVKVKNVKEGIHFKSSV
                     ISIYVSESMDRSSKGQIIGNFQAFDEDTGLPAHARYVKLEDRDNWISVDSVTSEIKLA
                     KLPDFESRYVQNGTYTVKIVAISEDYPRKTITGTVLINVEDINDNCPTLIEPVQTICH
                     DAEYVNVTAEDLDGHPNSGPFSFSVIDKPPGMAEKWKIARQESTSVLLQQSEKKLGRS
                     EIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCREAQHDSYVGLGPAAIALMILAFLL
                     LLLVPLLLLMCHCGKGAKGFTPIPGTIEMLHPWNNEGAPPEDKVVPSFLPVDQGGSLV
                     GRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEEHRSLLSGRATQFTGATGAIM
                     TTETTKTARATGASRDMAGAQAAAVALNEEFLRNYFTDKAASYTEEDENHTAKDCLLV
                     YSQEETESLNASIGCCSFIEGELDDRFLDDLGLKFKTLAEVCLGQKIDINKEIEQRQK
                     PATETSMNTASHSLCEQTMVNSENTYSSGSSFPVPKSLQEANAEKVTQEIVTERSVSS
                     RQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQSLIVTERVYAPAS
                     TLVDQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERESFLAPSSGVQ
                     PTLAMPNIAVGQNVTVTERVLAPASTLQSSYQIPTENSMTARNTTVSGAGVPGPLPDF
                     GLEESGHSNSTITTSSTRVTKHSTVQHSYS"
     exon            121..156
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            157..291
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            292..453
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            454..598
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            599..765
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            766..903
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1089
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1355
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1498
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1726
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            1727..1954
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            1955..2076
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2077..2409
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     exon            2410..5697
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5518..5523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /note="hexamer: AATAAA"
     polyA_site      5540
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /note="major polyA site"
     regulatory      5664..5669
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
                     /note="hexamer: AATAAA"
     polyA_site      5697
                     /gene="DSG2"
                     /gene_synonym="CDHF5; HDGC"
ORIGIN      
        1 gaggagccga gtgcgcgctc ggggcaggcg gcggcgcgga gcggtgcggc ggcgggaggc
       61 ggaggcgagg gtgcgatggc gcggagcccg ggacgcgcgt acgccctgct gcttctcctg
      121 atctgcttta acgttggaag tggacttcac ttacaggtct taagcacaag aaatgaaaat
      181 aagctgcttc ctaaacatcc tcatttagtg cggcaaaagc gcgcctggat caccgccccc
      241 gtggctcttc gggagggaga ggatctgtcc aagaagaatc caattgccaa gatacattct
      301 gatcttgcag aagaaagagg actcaaaatt acttacaaat acactggaaa agggattaca
      361 gagccacctt ttggtatatt tgtctttaac aaagatactg gagaactgaa tgttaccagc
      421 attcttgatc gagaagaaac accatttttt ctgctaacag gttacgcttt ggatgcaaga
      481 ggaaacaatg tagagaaacc cttagagcta cgcattaagg ttcttgatat caatgacaac
      541 gaaccagtgt tcacacagga tgtctttgtt gggtctgttg aagagttgag tgcagcacat
      601 actcttgtga tgaaaatcaa tgcaacagat gcagatgagc ccaataccct gaattcgaaa
      661 atttcctata gaatcgtatc tctggagcct gcttatcctc cagtgttcta cctaaataaa
      721 gatacaggag agatttatac aaccagtgtt accttggaca gagaggaaca cagcagctac
      781 actttgacag tagaagcaag agatggcaat ggagaagtta cagacaaacc tgtaaaacaa
      841 gctcaagttc agattcgtat tttggatgtc aatgacaata tacctgtagt agaaaataaa
      901 gtgcttgaag ggatggttga agaaaatcaa gtcaacgtag aagttacgcg cataaaagtg
      961 ttcgatgcag atgaaatagg ttctgataat tggctggcaa attttacatt tgcatcagga
     1021 aatgaaggag gttatttcca catagaaaca gatgctcaaa ctaacgaagg aattgtgacc
     1081 cttattaagg aagtagatta tgaagaaatg aagaatcttg acttcagtgt tattgtcgct
     1141 aataaagcag cttttcacaa gtcgattagg agtaaataca agcctacacc cattcccatc
     1201 aaggtcaaag tgaaaaatgt gaaagaaggc attcatttta aaagcagcgt catctcaatt
     1261 tatgttagcg agagcatgga tagatcaagc aaaggccaaa taattggaaa ttttcaagct
     1321 tttgatgagg acactggact accagcccat gcaagatatg taaaattaga agatagagat
     1381 aattggatct ctgtggattc tgtcacatct gaaattaaac ttgcaaaact tcctgatttt
     1441 gaatctagat atgttcaaaa tggcacatac actgtaaaga ttgtggccat atcagaagat
     1501 tatcctagaa aaaccatcac tggcacagtc cttatcaatg ttgaagacat caacgacaac
     1561 tgtcccacac tgatagagcc tgtgcagaca atctgtcacg atgcagagta tgtgaatgtt
     1621 actgcagagg acctggatgg acacccaaac agtggccctt tcagtttctc cgtcattgac
     1681 aaaccacctg gcatggcaga aaaatggaaa atagcacgcc aagaaagtac cagtgtgctg
     1741 ctgcaacaaa gtgagaaaaa gcttgggaga agtgaaattc agttcctgat ttcagacaat
     1801 cagggtttta gttgtcctga aaagcaggtc cttacactca cagtttgtga gtgtctgcat
     1861 ggcagcggct gcagggaagc acagcatgac tcctatgtgg gcctgggacc cgcagcaatt
     1921 gcgctcatga ttttggcctt tctgctcctg ctattggtac cacttttact gctgatgtgc
     1981 cattgcggaa agggcgccaa aggctttacc cccatacctg gcaccataga gatgctgcat
     2041 ccttggaata atgaaggagc accacctgaa gacaaggtgg tgccatcatt tctgccagtg
     2101 gatcaagggg gcagtctagt aggaagaaat ggagtaggag gtatggccaa ggaagccacg
     2161 atgaaaggaa gtagctctgc ttccattgtc aaagggcaac atgagatgtc cgagatggat
     2221 ggaaggtggg aagaacacag aagcctgctt tctggtagag ctacccagtt tacaggggcc
     2281 acaggcgcta tcatgaccac tgaaaccacg aagaccgcaa gggccacagg ggcttccaga
     2341 gacatggccg gagctcaggc agctgctgtt gcactgaacg aagaattctt aagaaattat
     2401 ttcactgata aagcggcctc ttacactgag gaagatgaaa atcacacagc caaagattgc
     2461 cttctggttt attctcagga agaaactgaa tcgctgaatg cttctattgg ttgttgcagt
     2521 tttattgaag gagagctaga tgaccgcttc ttagatgatt tgggacttaa attcaagaca
     2581 ctagctgaag tttgcctggg tcaaaaaata gatataaata aggaaattga gcagagacaa
     2641 aaacctgcca cagaaacaag tatgaacaca gcttcacatt cactctgtga gcaaactatg
     2701 gttaattcag agaataccta ctcctctggc agtagcttcc cagttccaaa atctttgcaa
     2761 gaagccaatg cagagaaagt aactcaggaa atagtcactg aaagatctgt gtcttctagg
     2821 caggcgcaaa aggtagctac acctcttcct gacccaatgg cttctagaaa tgtgatagca
     2881 acagaaactt cctatgtcac agggtccact atgccaccaa ccactgtgat cctgggtcct
     2941 agccagccac agagccttat tgtgacagag agggtgtatg ctccagcttc taccttggta
     3001 gatcagcctt atgctaatga aggtacagtt gtggtcactg aaagagtaat acagcctcat
     3061 gggggtggat cgaatcctct ggaaggcact cagcatcttc aagatgtacc ttacgtcatg
     3121 gtgagggaaa gagagagctt ccttgccccc agctcaggtg tgcagcctac tctggccatg
     3181 cctaatatag cagtaggaca gaatgtgaca gtgacagaaa gagttctagc acctgcttcc
     3241 actctgcaat ccagttacca gattcccact gaaaattcta tgacggctag gaacaccacg
     3301 gtgtctggag ctggagtccc tggccctctg ccagattttg gtttagagga atctggtcat
     3361 tctaattcta ccataaccac atcttccacc agagttacca agcatagcac tgtacagcat
     3421 tcttactcct aaacagcagt cagccacaaa ctgacccaga gtttaattag cagtgactaa
     3481 tttcatgttt ccaatgtacc tgatttttca tgagccttac agacacacag agacacatac
     3541 acattgatct taaaattttt ctcagtcact gatatgcaaa ggaccacact gtctctgctt
     3601 ccaggagtat tttagaaatg ttccacaatt tactgaagac atagagatga tgctgctgct
     3661 taggtgcctt ttagcaagct atgcaaacaa tcctgataaa acaagataca tagagagtca
     3721 atctggcttc tgagaattta ccaagtgaac agagtaccta gttcatcagc cgtccagtaa
     3781 agcaacccag gaaactgact gggtctcttt gcctaccgta ttaacattaa acattgatgt
     3841 tctgtattct gtactttact gcacccagca gactttcaac aactcattga tccaaagata
     3901 catgcacagt ctgagcacca gctatggtgc tcataacttc tttaagactt gaaccctttc
     3961 aatctgtgtg attcattaaa ttggaccatt gatgataaga atacacattg tatgtttctg
     4021 tgcacatgac agtgtgtgtg tgtgcacgta catactgtat agtcttaaaa atagcattat
     4081 actggccagg ggtggtggct aacgcctgta atcccagcac tttgggaggc cgaggcgggt
     4141 ggatcaactg tggtcaggag tttgagatca gccaggccaa cctggtgaaa ccccgtctct
     4201 actaaaaata caaaaattag ctgggcgtga tggtgggcgc ctgtaatccc agctacttgg
     4261 gaggctgagg caggagaatc acttgaaccc gggaggcgga ggttgcagtg agccgagatc
     4321 gcaccattgc actccagtct gggcaacaga gtgagattcc gtctcaaaaa aaaaaagaaa
     4381 aggaaaaaaa aatagcatta tacctcttcc ttgtctcaac cgccatgaaa attctgaaca
     4441 ctccaaattc agttgaataa tccaaaacaa aatttataag tataaaataa ttttacttct
     4501 tatagtaata gtatacttta aaaagcctca gggtatatta tcttctaaac agctacaatt
     4561 cagtgcagct acattaacca actatgttct ctagttgaga acaactaggc ctatttcact
     4621 gctgtgtagc ctcagtgcct aacatgggtg ccaaataaat attcgtagaa ttacactgaa
     4681 ttgtaaaaac cattcgtttt tgtttacaat tgccaaaaat ctcaaaaggc cctgtattta
     4741 tgtaattctt tgaaattatt attttatttt gatttctcag ttattgactg gctgggtgtg
     4801 acttagtaca taagtactca atattataaa aacctcaaat aattgacttg attttacaca
     4861 acatccttcc cttttctaca agttaatttt tttacaaatc atttgggtta tctcctaaat
     4921 aggttatatt ttattgcttc tagaaacaat gtttcaaaat atatgtgcat tatcagtaat
     4981 aatttgtata aatatttccc acaacaattt tcataatttt caaagactaa tttcttgact
     5041 gaagatattt tgctagggaa gtgaaacttt aaaattttgt agattttaaa aaatattgtt
     5101 gaatggtgtc atgcaaagga tttatatagt gtgctcccac taactgtaca gatcaggaca
     5161 catattttta gacatctaag tctgtagctt aaatggaggt tactcttcca tcatctagaa
     5221 ttgtttactt agtaattgtt gtttctttta ttattataga cttactatca gttttatttt
     5281 gccaagtatg caacaggtat atcactagta tatgaaaatg taaatatcac ttgtgtactc
     5341 aaacaaaagt tggtcttaag cttccacctt gagcagcctt ggaaacctaa cctgcctctt
     5401 ttagcataat cacattttct aaatgatttt ctttgttcct gaaaaagtga tttgtattag
     5461 ttttacattt gttttttgga agattatatt tgtatatgta tcatcataaa atatttaaat
     5521 aaaaagtatc tttagagtga ccctttcccc atagattttt atttctctat tatattttac
     5581 aaggaatata actcagtttg ttagggagag tgccttaaag gcaggtgttt cttggacttt
     5641 gttatttaat tagatctgct tgcaataaaa aaagttgtcg gttatctaaa attcaaa
//
