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Identification
HMDB Protein ID HMDBP07656
Secondary Accession Numbers
  • 13365
Name Desmocollin-2
Synonyms
  1. Cadherin family member 2
  2. Desmocollin-3
  3. Desmosomal glycoprotein II
  4. Desmosomal glycoprotein III
Gene Name DSC2
Protein Type Unknown
Biological Properties
General Function Involved in calcium ion binding
Specific Function Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
plasma membrane
intrinsic to membrane
integral to membrane
Function
ion binding
cation binding
metal ion binding
binding
calcium ion binding
Process
cell adhesion
cellular process
cell-cell adhesion
homophilic cell adhesion
Cellular Location
  1. Cell membrane
  2. Single-pass type I membrane protein
  3. Cell junction
  4. desmosome
Gene Properties
Chromosome Location Chromosome:1
Locus 18q12.1
SNPs DSC2
Gene Sequence
>2706 bp
ATGGAGGCAGCCCGCCCCTCCGGCTCCTGGAACGGAGCCCTCTGCCGGCTGCTCCTGCTG
ACCCTCGCGATCTTAATATTTGCCAGTGATGCCTGCAAAAATGTGACATTACATGTTCCC
TCCAAACTAGATGCCGAGAAACTTGTTGGTAGAGTTAACCTGAAAGAGTGCTTTACAGCT
GCAAATCTAATTCATTCAAGTGATCCTGACTTCCAAATTTTGGAGGATGGTTCAGTCTAT
ACAACAAATACTATTCTATTGTCCTCGGAGAAGAGAAGTTTTACCATATTACTTTCCAAC
ACTGAGAACCAAGAAAAGAAGAAAATATTTGTCTTTTTGGAGCATCAAACAAAGGTCCTA
AAGAAAAGACATACTAAAGAAAAAGTTCTAAGGCGCGCCAAGAGAAGATGGGCTCCAATT
CCTTGTTCGATGCTAGAAAACTCCTTGGGTCCTTTTCCACTTTTCCTTCAACAGGTTCAA
TCTGACACGGCCCAAAACTATACCATATACTATTCCATAAGAGGTCCTGGAGTTGACCAA
GAACCTCGGAATTTATTTTATGTGGAGAGAGACACTGGAAACTTGTATTGTACTCGTCCT
GTAGATCGTGAGCAGTATGAATCTTTTGAGATAATTGCCTTTGCAACAACTCCAGATGGG
TATACTCCAGAACTTCCACTGCCCCTAATAATCAAAATAGAGGATGAAAATGATAACTAC
CCAATTTTTACAGAAGAAACTTATACTTTTACAATTTTTGAAAATTGCAGAGTGGGCACT
ACTGTGGGACAAGTGTGTGCTACTGACAAAGATGAGCCTGACACGATGCACACACGCCTG
AAGTACTCCATCATTGGGCAGGTGCCACCATCACCCACCCTATTTTCTATGCATCCAACT
ACAGGCGTGATCACCACAACATCATCTCAGCTAGACAGAGAGTTAATTGACAAGTACCAG
TTGAAAATAAAAGTACAAGACATGGATGGTCAGTATTTTGGTCTACAGACAACTTCAACT
TGTATCATTAACATTGATGATGTAAATGACCACTTGCCAACATTTACTCGTACTTCTTAT
GTGACATCAGTGGAAGAAAATACAGTTGATGTGGAAATCTTACGAGTTACTGTTGAGGAT
AAGGACTTAGTGAATACTGCTAACTGGAGAGCTAATTATACCATTTTAAAGGGCAATGAA
AATGGCAATTTTAAAATTGTAACAGATGCCAAAACCAATGAAGGAGTTCTTTGTGTAGTT
AAGCCTTTGAATTATGAAGAAAAGCAACAGATGATCTTGCAAATTGGTGTAGTTAATGAA
GCTCCATTTTCCAGAGAGGCTAGTCCAAGATCAGCCATGAGCACAGCAACAGTTACTGTT
AATGTAGAAGATCAGGATGAGGGCCCTGAGTGTAACCCTCCAATACAGACTGTTCGCATG
AAAGAAAATGCAGAAGTGGGAACAACAAGCAATGGATATAAAGCATATGACCCAGAAACA
AGAAGTAGCAGTGGCATAAGGTATAAGAAATTAACTGATCCAACAGGGTGGGTCACCATT
GATGAAAATACAGGATCAATCAAAGTTTTCAGAAGCCTGGATAGAGAGGCAGAGACCATC
AAAAATGGCATATATAATATTACAGTCCTTGCATCAGACCAAGGAGGGAGAACATGTACG
GGGACACTGGGCATTATACTTCAAGACGTGAATGATAACAGCCCATTCATACCTAAAAAG
ACAGTGATCATCTGCAAACCCACCATGTCATCTGCGGAGATTGTTGCGGTTGATCCTGAT
GAGCCTATCCATGGCCCACCCTTTGACTTTAGTCTGGAGAGTTCTACTTCAGAAGTACAG
AGAATGTGGAGACTGAAAGCAATTAATGATACAGCAGCACGTCTTTCCTATCAGAATGAT
CCTCCATTTGGCTCATATGTAGTACCTATAACAGTGAGAGATAGACTTGGCATGTCTAGT
GTCACTTCATTGGATGTTACACTGTGTGACTGCATTACCGAAAATGACTGCACACATCGT
GTAGATCCAAGGATTGGCGGTGGAGGAGTACAACTTGGAAAGTGGGCCATCCTTGCAATA
TTGTTGGGCATAGCATTGCTCTTTTGCATCCTGTTTACGCTGGTCTGTGGGGCTTCTGGG
ACGTCTAAACAACCAAAAGTAATTCCTGATGATTTAGCCCAGCAGAACCTAATTGTATCA
AACACAGAAGCTCCTGGAGATGACAAAGTGTATTCTGCGAATGGCTTCACAACCCAAACT
GTGGGCGCTTCTGCTCAGGGAGTTTGTGGCACCGTGGGATCAGGAATCAAAAACGGAGGT
CAGGAGACCATCGAAATGGTGAAAGGAGGACACCAGACCTCGGAATCCTGCCGGGGGGCT
GGCCACCATCACACCCTGGACTCCTGCAGGGGAGGACACACGGAGGTGGACAACTGCAGA
TACACTTACTCGGAGTGGCACAGTTTTACTCAGCCCCGTCTTGGTGAAAAAGTGTATCTG
TGTAATCAAGATGAAAATCACAAGCATGCCCAAGACTATGTCCTGACATATAACTATGAA
GGAAGAGGATCGGTGGCTGGGTCTGTAGGTTGTTGCAGTGAACGACAAGAAGAAGATGGG
CTTGAATTTTTGGATAATTTGGAGCCCAAATTTAGGACACTAGCAGAAGCATGCATGAAG
AGATGA
Protein Properties
Number of Residues 901
Molecular Weight 99960.9
Theoretical pI 4.98
Pfam Domain Function
Signals
  • 1-27
Transmembrane Regions
  • 695-715
Protein Sequence
>Desmocollin-2
MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTA
ANLIHSSDPDFQILEDGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVL
KKRHTKEKVLRRAKRRWAPIPCSMLENSLGPFPLFLQQVQSDTAQNYTIYYSIRGPGVDQ
EPRNLFYVERDTGNLYCTRPVDREQYESFEIIAFATTPDGYTPELPLPLIIKIEDENDNY
PIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRLKYSIIGQVPPSPTLFSMHPT
TGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSY
VTSVEENTVDVEILRVTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVV
KPLNYEEKQQMILQIGVVNEAPFSREASPRSAMSTATVTVNVEDQDEGPECNPPIQTVRM
KENAEVGTTSNGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTGSIKVFRSLDREAETI
KNGIYNITVLASDQGGRTCTGTLGIILQDVNDNSPFIPKKTVIICKPTMSSAEIVAVDPD
EPIHGPPFDFSLESSTSEVQRMWRLKAINDTAARLSYQNDPPFGSYVVPITVRDRLGMSS
VTSLDVTLCDCITENDCTHRVDPRIGGGGVQLGKWAILAILLGIALLFCILFTLVCGASG
TSKQPKVIPDDLAQQNLIVSNTEAPGDDKVYSANGFTTQTVGASAQGVCGTVGSGIKNGG
QETIEMVKGGHQTSESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKVYL
CNQDENHKHAQDYVLTYNYEGRGSVAGSVGCCSERQEEDGLEFLDNLEPKFRTLAEACMK
R
GenBank ID Protein 38648769
UniProtKB/Swiss-Prot ID Q02487
UniProtKB/Swiss-Prot Entry Name DSC2_HUMAN
PDB IDs Not Available
GenBank Gene ID BC063291
GeneCard ID DSC2
GenAtlas ID DSC2
HGNC ID HGNC:3036
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [PubMed:16335952 ]
  3. Ramachandran P, Boontheung P, Xie Y, Sondej M, Wong DT, Loo JA: Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. J Proteome Res. 2006 Jun;5(6):1493-503. [PubMed:16740002 ]
  4. Parker AE, Wheeler GN, Arnemann J, Pidsley SC, Ataliotis P, Thomas CL, Rees DA, Magee AI, Buxton RS: Desmosomal glycoproteins II and III. Cadherin-like junctional molecules generated by alternative splicing. J Biol Chem. 1991 Jun 5;266(16):10438-45. [PubMed:2037591 ]
  5. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ: Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006 Nov;79(5):978-84. Epub 2006 Sep 27. [PubMed:17033975 ]
  6. Posch MG, Posch MJ, Geier C, Erdmann B, Mueller W, Richter A, Ruppert V, Pankuweit S, Maisch B, Perrot A, Buttgereit J, Dietz R, Haverkamp W, Ozcelik C: A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol Genet Metab. 2008 Sep-Oct;95(1-2):74-80. doi: 10.1016/j.ymgme.2008.06.005. Epub 2008 Aug 3. [PubMed:18678517 ]