LOCUS       NP_077740                901 aa            linear   PRI 18-NOV-2024
DEFINITION  desmocollin-2 isoform Dsc2a preproprotein [Homo sapiens].
ACCESSION   NP_077740
VERSION     NP_077740.1
DBSOURCE    REFSEQ: accession NM_024422.6
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  (residues 1 to 901)
  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   2  (residues 1 to 901)
  AUTHORS   Sun,C., Wen,K., Zhang,B., Dong,Y., Chen,C., Neo,S.Y., Leng,B.,
            Gao,T.T. and Wu,J.
  TITLE     DSC2 suppresses the growth of gastric cancer through the inhibition
            of nuclear translocation of gamma-catenin and PTEN/PI3K/AKT
            signaling pathway
  JOURNAL   Aging (Albany NY) 15 (13), 6380-6399 (2023)
   PUBMED   37421607
  REMARK    GeneRIF: DSC2 suppresses the growth of gastric cancer through the
            inhibition of nuclear translocation of gamma-catenin and
            PTEN/PI3K/AKT signaling pathway.
REFERENCE   3  (residues 1 to 901)
  AUTHORS   Pariyar,M., Thorne,R.F., Scott,R.J. and Avery-Kiejda,K.A.
  TITLE     Verification and Validation of a Four-Gene Panel as a Prognostic
            Indicator in Triple Negative Breast Cancer
  JOURNAL   Front Oncol 12, 821334 (2022)
   PUBMED   35387118
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 901)
  AUTHORS   Chen,S.Y., Lih,T.M., Li,Q.K. and Zhang,H.
  TITLE     Comparing Urinary Glycoproteins among Three Urogenital Cancers and
            Identifying Prostate Cancer-Specific Glycoproteins
  JOURNAL   ACS Omega 7 (11), 9172-9180 (2022)
   PUBMED   35350332
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 901)
  AUTHORS   Syrris,P., Ward,D., Evans,A., Asimaki,A., Gandjbakhch,E.,
            Sen-Chowdhry,S. and McKenna,W.J.
  TITLE     Arrhythmogenic right ventricular dysplasia/cardiomyopathy
            associated with mutations in the desmosomal gene desmocollin-2
  JOURNAL   Am J Hum Genet 79 (5), 978-984 (2006)
   PUBMED   17033975
REFERENCE   6  (residues 1 to 901)
  AUTHORS   Nuber,U.A., Schafer,S., Schmidt,A., Koch,P.J. and Franke,W.W.
  TITLE     The widespread human desmocollin Dsc2 and tissue-specific patterns
            of synthesis of various desmocollin subtypes
  JOURNAL   Eur J Cell Biol 66 (1), 69-74 (1995)
   PUBMED   7750520
REFERENCE   7  (residues 1 to 901)
  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   8  (residues 1 to 901)
  AUTHORS   Arnemann,J., Spurr,N.K., Wheeler,G.N., Parker,A.E. and Buxton,R.S.
  TITLE     Chromosomal assignment of the human genes coding for the major
            proteins of the desmosome junction, desmoglein DGI (DSG),
            desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and
            plakoglobin DPIII (JUP)
  JOURNAL   Genomics 10 (3), 640-645 (1991)
   PUBMED   1889810
REFERENCE   9  (residues 1 to 901)
  AUTHORS   Parker,A.E., Wheeler,G.N., Arnemann,J., Pidsley,S.C., Ataliotis,P.,
            Thomas,C.L., Rees,D.A., Magee,A.I. and Buxton,R.S.
  TITLE     Desmosomal glycoproteins II and III. Cadherin-like junctional
            molecules generated by alternative splicing
  JOURNAL   J Biol Chem 266 (16), 10438-10445 (1991)
   PUBMED   2037591
REFERENCE   10 (residues 1 to 901)
  AUTHORS   Garrod,D.R. and Fleming,S.
  TITLE     Early expression of desmosomal components during kidney tubule
            morphogenesis in human and murine embryos
  JOURNAL   Development 108 (2), 313-321 (1990)
   PUBMED   2112455
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC382631.1, BC063291.1,
            X56807.1, BE350090.1 and AC012417.13.
            
            Summary: This gene encodes a member of the desmocollin protein
            subfamily. Desmocollins, along with desmogleins, are cadherin-like
            transmembrane glycoproteins that are major components of the
            desmosome. Desmosomes are cell-cell junctions that help resist
            shearing forces and are found in high concentrations in cells
            subject to mechanical stress. This gene is found in a cluster with
            other desmocollin family members on chromosome 18. Mutations in
            this gene are associated with arrhythmogenic right ventricular
            dysplasia-11, and reduced protein expression has been described in
            several types of cancer. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (Dsc2a, also known as DGII)
            encodes the longer isoform (Dsc2a).
            
            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 :: BC063291.1, SRR14038192.2462055.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280904.11/ ENSP00000280904.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..901
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     Protein         1..901
                     /product="desmocollin-2 isoform Dsc2a preproprotein"
                     /note="desmosomal glycoprotein II/III; cadherin family
                     member 2"
                     /calculated_mol_wt=96705
     sig_peptide     1..31
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=3275
     Region          31..111
                     /region_name="Cadherin_pro"
                     /note="Cadherin prodomain like; smart01055"
                     /db_xref="CDD:214999"
     Region          140..234
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Region          247..351
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(254..255,312,314,347,349..350)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          360..463
                     /region_name="Cadherin"
                     /note="Cadherin domain; pfam00028"
                     /db_xref="CDD:394985"
     Site            order(366..367,424,426,464,466..467)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          477..573
                     /region_name="Cadherin_repeat"
                     /note="Cadherin tandem repeat domain; cd11304"
                     /db_xref="CDD:206637"
     Site            order(482..483,534,536,569,571..572)
                     /site_type="other"
                     /note="Ca2+ binding site [ion binding]"
                     /db_xref="CDD:206637"
     Region          852..896
                     /region_name="CADH_Y-type_LIR"
                     /note="Cadherin, Y-type LIR-motif; pfam01049"
                     /db_xref="CDD:460041"
     CDS             1..901
                     /gene="DSC2"
                     /gene_synonym="ARVD11; CDHF2; DG2; DGII/III; DSC3"
                     /coded_by="NM_024422.6:451..3156"
                     /note="isoform Dsc2a preproprotein is encoded by
                     transcript variant Dsc2a"
                     /db_xref="CCDS:CCDS11892.1"
                     /db_xref="GeneID:1824"
                     /db_xref="HGNC:HGNC:3036"
                     /db_xref="MIM:125645"
ORIGIN      
        1 meaarpsgsw ngalcrllll tlailifasd acknvtlhvp skldaeklvg rvnlkecfta
       61 anlihssdpd fqiledgsvy ttntillsse krsftillsn tenqekkkif vflehqtkvl
      121 kkrhtkekvl rrakrrwapi pcsmlenslg pfplflqqvq sdtaqnytiy ysirgpgvdq
      181 eprnlfyver dtgnlyctrp vdreqyesfe iiafattpdg ytpelplpli ikiedendny
      241 pifteetytf tifencrvgt tvgqvcatdk depdtmhtrl kysiigqvpp sptlfsmhpt
      301 tgvitttssq ldrelidkyq lkikvqdmdg qyfglqttst ciiniddvnd hlptftrtsy
      361 vtsveentvd veilrvtved kdlvntanwr anytilkgne ngnfkivtda ktnegvlcvv
      421 kplnyeekqq milqigvvne apfsreaspr samstatvtv nvedqdegpe cnppiqtvrm
      481 kenaevgtts ngykaydpet rsssgirykk ltdptgwvti dentgsikvf rsldreaeti
      541 kngiynitvl asdqggrtct gtlgiilqdv ndnspfipkk tviickptms saeivavdpd
      601 epihgppfdf slesstsevq rmwrlkaind taarlsyqnd ppfgsyvvpi tvrdrlgmss
      661 vtsldvtlcd citendcthr vdpriggggv qlgkwailai llgiallfci lftlvcgasg
      721 tskqpkvipd dlaqqnlivs nteapgddkv ysangfttqt vgasaqgvcg tvgsgikngg
      781 qetiemvkgg hqtsescrga ghhhtldscr gghtevdncr ytysewhsft qprlgekvyl
      841 cnqdenhkha qdyvltynye grgsvagsvg ccserqeedg lefldnlepk frtlaeacmk
      901 r
//
