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Protein

Desmoglein-2

Gene

DSG2

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.

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • cell adhesion molecule binding Source: BHF-UCL
  • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL

GO - Biological processi

Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyi

Protein namesi
Recommended name:
Desmoglein-2
Alternative name(s):
Cadherin family member 5
HDGC
Gene namesi
Name:DSG2
Synonyms:CDHF5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000046604.12
HGNCiHGNC:3049 DSG2
MIMi125671 gene
neXtProtiNX_Q14126

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 domaini50 – 609ExtracellularSequence analysisAdd BLAST560
Transmembranei610 – 634HelicalSequence analysisAdd BLAST25
Topological domaini635 – 1118CytoplasmicSequence analysisAdd BLAST484

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 10 (ARVD10)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:610193
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02936546R → Q in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913008EnsemblClinVar.1
Natural variantiVAR_02936649R → H in ARVD10. 4 PublicationsCorresponds to variant dbSNP:rs121913006EnsemblClinVar.1
Natural variantiVAR_065686335T → A in ARVD10. 1 PublicationCorresponds to variant dbSNP:rs191564916EnsemblClinVar.1
Natural variantiVAR_029367507C → Y in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913009EnsemblClinVar.1
Natural variantiVAR_029368812G → C in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913010EnsemblClinVar.1
Cardiomyopathy, dilated 1BB (CMD1BB)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:612877

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi1829
GeneReviewsiDSG2
MalaCardsiDSG2
MIMi610193 phenotype
612877 phenotype
OpenTargetsiENSG00000046604
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
154 Familial isolated dilated cardiomyopathy
PharmGKBiPA27502

Polymorphism and mutation databases

BioMutaiDSG2
DMDMi148876773

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
PropeptideiPRO_000000384524 – 49Sequence analysisAdd BLAST26
ChainiPRO_000000384650 – 1118Desmoglein-2Add BLAST1069

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi112N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi182N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi309N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi462N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi514N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei680PhosphoserineCombined sources1
Modified residuei700PhosphoserineCombined sources1
Modified residuei703PhosphoserineCombined sources1
Modified residuei723PhosphoserineCombined sources1
Modified residuei726PhosphoserineCombined sources1
Modified residuei804PhosphothreonineCombined sources1
Modified residuei806PhosphoserineCombined sources1
Modified residuei810PhosphoserineCombined sources1
Modified residuei815PhosphoserineCombined sources1
Modified residuei922PhosphothreonineCombined sources1
Modified residuei1118PhosphoserineCombined sources1

Keywords - PTMi

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ14126
MaxQBiQ14126
PaxDbiQ14126
PeptideAtlasiQ14126
PRIDEiQ14126
ProteomicsDBi59829

PTM databases

GlyConnecti1172
iPTMnetiQ14126
PhosphoSitePlusiQ14126
SwissPalmiQ14126

Miscellaneous databases

PMAP-CutDBiQ14126

Expressioni

Tissue specificityi

All of the tissues tested and carcinomas.

Gene expression databases

BgeeiENSG00000046604 Expressed in 183 organ(s), highest expression level in mucosa of sigmoid colon
CleanExiHS_DSG2
ExpressionAtlasiQ14126 baseline and differential
GenevisibleiQ14126 HS

Organism-specific databases

HPAiCAB025122
HPA004896

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108163, 52 interactors
DIPiDIP-46250N
IntActiQ14126, 46 interactors
MINTiQ14126
STRINGi9606.ENSP00000261590

Structurei

Secondary structure

11118
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14126
SMRiQ14126
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14126

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 160Cadherin 1PROSITE-ProRule annotationAdd BLAST111
Domaini161 – 273Cadherin 2PROSITE-ProRule annotationAdd BLAST113
Domaini274 – 388Cadherin 3PROSITE-ProRule annotationAdd BLAST115
Domaini389 – 503Cadherin 4PROSITE-ProRule annotationAdd BLAST115
Repeati881 – 912Desmoglein repeat 1Add BLAST32
Repeati913 – 942Desmoglein repeat 2Add BLAST30
Repeati943 – 968Desmoglein repeat 3Add BLAST26
Repeati969 – 992Desmoglein repeat 4Add BLAST24
Repeati993 – 1021Desmoglein repeat 5Add BLAST29
Repeati1022 – 1051Desmoglein repeat 6Add BLAST30

Domaini

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
GeneTreeiENSGT00910000144083
HOGENOMiHOG000236266
HOVERGENiHBG005532
InParanoidiQ14126
KOiK07597
OMAiVMVRERE
OrthoDBiEOG091G01F3
PhylomeDBiQ14126
TreeFamiTF331809

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin
IPR015919 Cadherin-like
IPR020894 Cadherin_CS
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin
PANTHERiPTHR24025 PTHR24025, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 3 hits
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
PR01819 DESMOGLEIN
SMARTiView protein in SMART
SM00112 CA, 4 hits
SUPFAMiSSF49313 SSF49313, 5 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 4 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q14126-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA
60 70 80 90 100
WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG
110 120 130 140 150
IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL
160 170 180 190 200
DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI
210 220 230 240 250
VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD
260 270 280 290 300
KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE
310 320 330 340 350
IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF
360 370 380 390 400
SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES
410 420 430 440 450
MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA
460 470 480 490 500
KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI
510 520 530 540 550
EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE
560 570 580 590 600
STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR
610 620 630 640 650
EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT
660 670 680 690 700
IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS
710 720 730 740 750
SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA
760 770 780 790 800
TGASRDMAGA QAAAVALNEE FLRNYFTDKA ASYTEEDENH TAKDCLLVYS
810 820 830 840 850
QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC LGQKIDINKE
860 870 880 890 900
IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE
910 920 930 940 950
KVTQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT
960 970 980 990 1000
VILGPSQPQS LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN
1010 1020 1030 1040 1050
PLEGTQHLQD VPYVMVRERE SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV
1060 1070 1080 1090 1100
LAPASTLQSS YQIPTENSMT ARNTTVSGAG VPGPLPDFGL EESGHSNSTI
1110
TTSSTRVTKH STVQHSYS
Length:1,118
Mass (Da):122,294
Last modified:May 29, 2007 - v2
Checksum:iE1481AA1686DB80A
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSI6J3KSI6_HUMAN
Desmoglein-2
DSG2
232Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4 – 10SPGRAYA → TRDRVR in CAA81226 (PubMed:8143788).Curated7
Sequence conflicti593C → V in CAA81226 (PubMed:8143788).Curated1
Sequence conflicti643G → A in CAA81226 (PubMed:8143788).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02936546R → Q in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913008EnsemblClinVar.1
Natural variantiVAR_02936649R → H in ARVD10. 4 PublicationsCorresponds to variant dbSNP:rs121913006EnsemblClinVar.1
Natural variantiVAR_06238756V → M Associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs121913013EnsemblClinVar.1
Natural variantiVAR_04850889Y → C. Corresponds to variant dbSNP:rs2230232EnsemblClinVar.1
Natural variantiVAR_062388158V → G1 PublicationCorresponds to variant dbSNP:rs191143292EnsemblClinVar.1
Natural variantiVAR_048509293I → V2 PublicationsCorresponds to variant dbSNP:rs2230234EnsemblClinVar.1
Natural variantiVAR_065686335T → A in ARVD10. 1 PublicationCorresponds to variant dbSNP:rs191564916EnsemblClinVar.1
Natural variantiVAR_029367507C → Y in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913009EnsemblClinVar.1
Natural variantiVAR_048510515V → I. Corresponds to variant dbSNP:rs2230235EnsemblClinVar.1
Natural variantiVAR_062389713E → K2 PublicationsCorresponds to variant dbSNP:rs79241126EnsemblClinVar.1
Natural variantiVAR_048511773R → K2 PublicationsCorresponds to variant dbSNP:rs2278792EnsemblClinVar.1
Natural variantiVAR_029368812G → C in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913010EnsemblClinVar.1
Natural variantiVAR_048512863M → L. Corresponds to variant dbSNP:rs16962093EnsemblClinVar.1
Natural variantiVAR_048513903T → I. Corresponds to variant dbSNP:rs34065672EnsemblClinVar.1
Natural variantiVAR_062390920V → G2 PublicationsCorresponds to variant dbSNP:rs142841727EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z26317 mRNA Translation: CAA81226.1
BC099655 mRNA Translation: AAH99655.1
BC099656 mRNA Translation: AAH99656.1
BC099657 mRNA Translation: AAH99657.1
CCDSiCCDS42423.1
PIRiS38673
RefSeqiNP_001934.2, NM_001943.4
UniGeneiHs.412597

Genome annotation databases

EnsembliENST00000261590; ENSP00000261590; ENSG00000046604
GeneIDi1829
KEGGihsa:1829
UCSCiuc002kwu.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z26317 mRNA Translation: CAA81226.1
BC099655 mRNA Translation: AAH99655.1
BC099656 mRNA Translation: AAH99656.1
BC099657 mRNA Translation: AAH99657.1
CCDSiCCDS42423.1
PIRiS38673
RefSeqiNP_001934.2, NM_001943.4
UniGeneiHs.412597

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQGNMR-A47-162[»]
5ERDX-ray2.90A/B50-602[»]
5J5JX-ray3.29A152-601[»]
ProteinModelPortaliQ14126
SMRiQ14126
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108163, 52 interactors
DIPiDIP-46250N
IntActiQ14126, 46 interactors
MINTiQ14126
STRINGi9606.ENSP00000261590

PTM databases

GlyConnecti1172
iPTMnetiQ14126
PhosphoSitePlusiQ14126
SwissPalmiQ14126

Polymorphism and mutation databases

BioMutaiDSG2
DMDMi148876773

Proteomic databases

EPDiQ14126
MaxQBiQ14126
PaxDbiQ14126
PeptideAtlasiQ14126
PRIDEiQ14126
ProteomicsDBi59829

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261590; ENSP00000261590; ENSG00000046604
GeneIDi1829
KEGGihsa:1829
UCSCiuc002kwu.5 human

Organism-specific databases

CTDi1829
DisGeNETi1829
EuPathDBiHostDB:ENSG00000046604.12
GeneCardsiDSG2
GeneReviewsiDSG2
H-InvDBiHIX0039840
HGNCiHGNC:3049 DSG2
HPAiCAB025122
HPA004896
MalaCardsiDSG2
MIMi125671 gene
610193 phenotype
612877 phenotype
neXtProtiNX_Q14126
OpenTargetsiENSG00000046604
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
154 Familial isolated dilated cardiomyopathy
PharmGKBiPA27502
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00910000144083
HOGENOMiHOG000236266
HOVERGENiHBG005532
InParanoidiQ14126
KOiK07597
OMAiVMVRERE
OrthoDBiEOG091G01F3
PhylomeDBiQ14126
TreeFamiTF331809

Enzyme and pathway databases

ReactomeiR-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

ChiTaRSiDSG2 human
EvolutionaryTraceiQ14126
GeneWikiiDesmoglein_2
GenomeRNAii1829
PMAP-CutDBiQ14126
PROiPR:Q14126
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000046604 Expressed in 183 organ(s), highest expression level in mucosa of sigmoid colon
CleanExiHS_DSG2
ExpressionAtlasiQ14126 baseline and differential
GenevisibleiQ14126 HS

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin
IPR015919 Cadherin-like
IPR020894 Cadherin_CS
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin
PANTHERiPTHR24025 PTHR24025, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 3 hits
PRINTSiPR00205 CADHERIN
PR01818 DESMOCADHERN
PR01819 DESMOGLEIN
SMARTiView protein in SMART
SM00112 CA, 4 hits
SUPFAMiSSF49313 SSF49313, 5 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiDSG2_HUMAN
AccessioniPrimary (citable) accession number: Q14126
Secondary accession number(s): Q4KKU6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 29, 2007
Last modified: October 10, 2018
This is version 179 of the entry and version 2 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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