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Protein

Desmocollin-2

Gene

DSC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

  • bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
  • cardiac muscle cell-cardiac muscle cell adhesion Source: UniProtKB
  • cell adhesion Source: ProtInc
  • cellular response to starvation Source: Ensembl
  • cornification Source: Reactome
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • keratinization Source: Reactome
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL

Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyi

Protein namesi
Recommended name:
Desmocollin-21 Publication
Alternative name(s):
Cadherin family member 2
Desmocollin-3
Desmosomal glycoprotein II
Desmosomal glycoprotein III
Gene namesi
Name:DSC2Imported
Synonyms:CDHF2, DSC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000134755.14
HGNCiHGNC:3036 DSC2
MIMi125645 gene
neXtProtiNX_Q02487

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini136 – 694ExtracellularSequence analysisAdd BLAST559
Transmembranei695 – 715HelicalSequence analysisAdd BLAST21
Topological domaini716 – 901CytoplasmicSequence analysisAdd BLAST186

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
See also OMIM:610476
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065687203R → C in ARVD11; fails to undergo complete processing into a mature form; fails to localize at the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs142331975EnsemblClinVar.1
Natural variantiVAR_065688231I → T in ARVD11. 1 Publication1
Natural variantiVAR_065689275T → M in ARVD11; can be processed into a mature form but shows a higher pro-protein to mature protein ratio; only a proportion of the partly functional mutant is incorporated into the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs397517404EnsemblClinVar.1
Natural variantiVAR_065690340T → A in ARVD11. 1 PublicationCorresponds to variant dbSNP:rs368299411EnsemblClinVar.1
Natural variantiVAR_078340364V → M in ARVD11. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi1824
GeneReviewsiDSC2
MalaCardsiDSC2
MIMi610476 phenotype
OpenTargetsiENSG00000134755
Orphaneti293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
PharmGKBiPA27489

Polymorphism and mutation databases

BioMutaiDSC2
DMDMi461968

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
PropeptideiPRO_000000386928 – 135Sequence analysisAdd BLAST108
ChainiPRO_0000003870136 – 901Desmocollin-2Add BLAST766

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi34N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi392N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi546N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi629N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei864PhosphoserineCombined sources1
Modified residuei868PhosphoserineCombined sources1
Modified residuei873PhosphoserineCombined sources1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ02487
MaxQBiQ02487
PaxDbiQ02487
PeptideAtlasiQ02487
PRIDEiQ02487
ProteomicsDBi58097
58098 [Q02487-2]

PTM databases

CarbonylDBiQ02487
iPTMnetiQ02487
PhosphoSitePlusiQ02487
SwissPalmiQ02487

Expressioni

Tissue specificityi

Expressed in epithelia, myocardium and lymph nodes.

Gene expression databases

BgeeiENSG00000134755
CleanExiHS_DSC2
HS_DSC3
GenevisibleiQ02487 HS

Organism-specific databases

HPAiHPA011911
HPA012615

Interactioni

Subunit structurei

Interacts with DSP, PKP2 and JUP.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108158, 25 interactors
IntActiQ02487, 14 interactors
STRINGi9606.ENSP00000280904

Structurei

Secondary structure

1901
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi142 – 147Combined sources6
Beta strandi152 – 158Combined sources7
Turni163 – 166Combined sources4
Beta strandi172 – 175Combined sources4
Turni176 – 178Combined sources3
Beta strandi179 – 182Combined sources4
Beta strandi184 – 188Combined sources5
Turni190 – 192Combined sources3
Beta strandi194 – 197Combined sources4
Turni203 – 205Combined sources3
Beta strandi212 – 214Combined sources3
Beta strandi230 – 234Combined sources5
Beta strandi241 – 244Combined sources4
Beta strandi246 – 253Combined sources8
Beta strandi261 – 264Combined sources4
Beta strandi267 – 269Combined sources3
Helixi276 – 278Combined sources3
Beta strandi281 – 289Combined sources9
Beta strandi295 – 297Combined sources3
Turni299 – 301Combined sources3
Beta strandi303 – 307Combined sources5
Turni313 – 315Combined sources3
Beta strandi318 – 327Combined sources10
Helixi328 – 330Combined sources3
Beta strandi336 – 346Combined sources11
Beta strandi354 – 365Combined sources12
Beta strandi370 – 376Combined sources7
Turni387 – 389Combined sources3
Beta strandi390 – 398Combined sources9
Beta strandi404 – 408Combined sources5
Turni410 – 412Combined sources3
Beta strandi415 – 419Combined sources5
Turni425 – 427Combined sources3
Beta strandi429 – 441Combined sources13
Beta strandi454 – 463Combined sources10
Beta strandi472 – 481Combined sources10
Turni498 – 500Combined sources3
Beta strandi518 – 520Combined sources3
Turni522 – 524Combined sources3
Beta strandi527 – 529Combined sources3
Beta strandi544 – 552Combined sources9
Beta strandi558 – 568Combined sources11
Turni586 – 588Combined sources3
Beta strandi590 – 595Combined sources6
Helixi602 – 604Combined sources3
Beta strandi609 – 611Combined sources3
Turni617 – 622Combined sources6
Beta strandi624 – 636Combined sources13
Beta strandi643 – 645Combined sources3
Beta strandi648 – 653Combined sources6
Beta strandi659 – 664Combined sources6
Beta strandi672 – 675Combined sources4

3D structure databases

ProteinModelPortaliQ02487
SMRiQ02487
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini136 – 243Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini244 – 355Cadherin 2PROSITE-ProRule annotationAdd BLAST112
Domaini356 – 471Cadherin 3PROSITE-ProRule annotationAdd BLAST116
Domaini472 – 579Cadherin 4PROSITE-ProRule annotationAdd BLAST108
Domaini580 – 694Cadherin 5PROSITE-ProRule annotationAdd BLAST115

Domaini

Calcium may be bound by the cadherin-like repeats.Curated
Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.By similarity

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00760000118906
HOGENOMiHOG000231253
HOVERGENiHBG102801
InParanoidiQ02487
KOiK07601
OMAiQVCATDK
OrthoDBiEOG091G01IB
PhylomeDBiQ02487
TreeFamiTF316817

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin
IPR015919 Cadherin-like
IPR020894 Cadherin_CS
IPR000233 Cadherin_cytoplasmic-dom
IPR014868 Cadherin_pro_dom
IPR027397 Catenin_binding_dom_sf
IPR009122 Desmosomal_cadherin
PANTHERiPTHR24025 PTHR24025, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 4 hits
PF01049 Cadherin_C, 1 hit
PF08758 Cadherin_pro, 1 hit
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
SMARTiView protein in SMART
SM00112 CA, 5 hits
SM01055 Cadherin_pro, 1 hit
SUPFAMiSSF49313 SSF49313, 6 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 5 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2A (identifier: Q02487-1) [UniParc]FASTAAdd to basket
Also known as: DGII

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAARPSGSW NGALCRLLLL TLAILIFASD ACKNVTLHVP SKLDAEKLVG
60 70 80 90 100
RVNLKECFTA ANLIHSSDPD FQILEDGSVY TTNTILLSSE KRSFTILLSN
110 120 130 140 150
TENQEKKKIF VFLEHQTKVL KKRHTKEKVL RRAKRRWAPI PCSMLENSLG
160 170 180 190 200
PFPLFLQQVQ SDTAQNYTIY YSIRGPGVDQ EPRNLFYVER DTGNLYCTRP
210 220 230 240 250
VDREQYESFE IIAFATTPDG YTPELPLPLI IKIEDENDNY PIFTEETYTF
260 270 280 290 300
TIFENCRVGT TVGQVCATDK DEPDTMHTRL KYSIIGQVPP SPTLFSMHPT
310 320 330 340 350
TGVITTTSSQ LDRELIDKYQ LKIKVQDMDG QYFGLQTTST CIINIDDVND
360 370 380 390 400
HLPTFTRTSY VTSVEENTVD VEILRVTVED KDLVNTANWR ANYTILKGNE
410 420 430 440 450
NGNFKIVTDA KTNEGVLCVV KPLNYEEKQQ MILQIGVVNE APFSREASPR
460 470 480 490 500
SAMSTATVTV NVEDQDEGPE CNPPIQTVRM KENAEVGTTS NGYKAYDPET
510 520 530 540 550
RSSSGIRYKK LTDPTGWVTI DENTGSIKVF RSLDREAETI KNGIYNITVL
560 570 580 590 600
ASDQGGRTCT GTLGIILQDV NDNSPFIPKK TVIICKPTMS SAEIVAVDPD
610 620 630 640 650
EPIHGPPFDF SLESSTSEVQ RMWRLKAIND TAARLSYQND PPFGSYVVPI
660 670 680 690 700
TVRDRLGMSS VTSLDVTLCD CITENDCTHR VDPRIGGGGV QLGKWAILAI
710 720 730 740 750
LLGIALLFCI LFTLVCGASG TSKQPKVIPD DLAQQNLIVS NTEAPGDDKV
760 770 780 790 800
YSANGFTTQT VGASAQGVCG TVGSGIKNGG QETIEMVKGG HQTSESCRGA
810 820 830 840 850
GHHHTLDSCR GGHTEVDNCR YTYSEWHSFT QPRLGEKVYL CNQDENHKHA
860 870 880 890 900
QDYVLTYNYE GRGSVAGSVG CCSERQEEDG LEFLDNLEPK FRTLAEACMK

R
Length:901
Mass (Da):99,962
Last modified:February 1, 1994 - v1
Checksum:i30F7E3D33ECA67CC
GO
Isoform 2B (identifier: Q02487-2) [UniParc]FASTAAdd to basket
Also known as: DGIII

The sequence of this isoform differs from the canonical sequence as follows:
     837-847: KVYLCNQDENH → ESIRGHTLIKN
     848-901: Missing.

Show »
Length:847
Mass (Da):93,769
Checksum:iA53588B1D490CD8F
GO

Sequence cautioni

The sequence CAA40141 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAA40142 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02948011N → S1 PublicationCorresponds to variant dbSNP:rs868333EnsemblClinVar.1
Natural variantiVAR_065687203R → C in ARVD11; fails to undergo complete processing into a mature form; fails to localize at the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs142331975EnsemblClinVar.1
Natural variantiVAR_065688231I → T in ARVD11. 1 Publication1
Natural variantiVAR_065689275T → M in ARVD11; can be processed into a mature form but shows a higher pro-protein to mature protein ratio; only a proportion of the partly functional mutant is incorporated into the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs397517404EnsemblClinVar.1
Natural variantiVAR_065690340T → A in ARVD11. 1 PublicationCorresponds to variant dbSNP:rs368299411EnsemblClinVar.1
Natural variantiVAR_062391358T → I1 PublicationCorresponds to variant dbSNP:rs139399951EnsemblClinVar.1
Natural variantiVAR_078340364V → M in ARVD11. 1 Publication1
Natural variantiVAR_065691596A → V1 PublicationCorresponds to variant dbSNP:rs148185335EnsemblClinVar.1
Natural variantiVAR_065692638Q → H1 PublicationCorresponds to variant dbSNP:rs147742157EnsemblClinVar.1
Natural variantiVAR_024388776I → V2 PublicationsCorresponds to variant dbSNP:rs1893963EnsemblClinVar.1
Natural variantiVAR_062392798R → Q3 PublicationsCorresponds to variant dbSNP:rs61731921EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000657837 – 847KVYLCNQDENH → ESIRGHTLIKN in isoform 2B. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_000658848 – 901Missing in isoform 2B. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X56807 mRNA Translation: CAA40141.1 Different initiation.
X56807 mRNA Translation: CAA40142.1 Different initiation.
BC063291 mRNA Translation: AAH63291.1
CCDSiCCDS11892.1 [Q02487-1]
CCDS11893.1 [Q02487-2]
PIRiA40390 IJHUDB
B40390 IJHUDA
RefSeqiNP_004940.1, NM_004949.4 [Q02487-2]
NP_077740.1, NM_024422.4 [Q02487-1]
UniGeneiHs.95612

Genome annotation databases

EnsembliENST00000251081; ENSP00000251081; ENSG00000134755 [Q02487-2]
ENST00000280904; ENSP00000280904; ENSG00000134755 [Q02487-1]
GeneIDi1824
KEGGihsa:1824
UCSCiuc002kwk.5 human [Q02487-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDSC2_HUMAN
AccessioniPrimary (citable) accession number: Q02487
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: June 20, 2018
This is version 175 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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