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Entry version 189 (16 Oct 2019)
Sequence version 2 (29 May 2007)
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Protein

Desmoglein-2

Gene

DSG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Desmoglein-2
Alternative name(s):
Cadherin family member 5
HDGC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DSG2
Synonyms:CDHF5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3049 DSG2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
125671 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14126

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini50 – 609ExtracellularSequence analysisAdd BLAST560
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei610 – 634HelicalSequence analysisAdd BLAST25
Topological domaini635 – 1118CytoplasmicSequence analysisAdd BLAST484

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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.
Related information in OMIM

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1829

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DSG2

MalaCards human disease database

More...
MalaCardsi
DSG2
MIMi610193 phenotype
612877 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000046604

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
293899 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27502

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14126

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DSG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
148876773

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000384524 – 49Sequence analysisAdd BLAST26
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000384650 – 1118Desmoglein-2Add BLAST1069

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

The CPTAC Assay portal

More...
CPTACi
CPTAC-1307

Encyclopedia of Proteome Dynamics

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EPDi
Q14126

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q14126

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14126

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14126

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q14126

PeptideAtlas

More...
PeptideAtlasi
Q14126

PRoteomics IDEntifications database

More...
PRIDEi
Q14126

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
59829

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1172

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14126

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q14126

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q14126

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q14126

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

All of the tissues tested and carcinomas.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000046604 Expressed in 183 organ(s), highest expression level in mucosa of sigmoid colon

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14126 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14126 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB025122
HPA004896

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108163, 64 interactors

Database of interacting proteins

More...
DIPi
DIP-46250N

Protein interaction database and analysis system

More...
IntActi
Q14126, 47 interactors

Molecular INTeraction database

More...
MINTi
Q14126

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261590

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q14126

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q14126

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini50 – 160Cadherin 1PROSITE-ProRule annotationAdd BLAST111
Domaini161 – 273Cadherin 2PROSITE-ProRule annotationAdd BLAST113
Domaini274 – 388Cadherin 3PROSITE-ProRule annotationAdd BLAST115
Domaini389 – 503Cadherin 4PROSITE-ProRule annotationAdd BLAST115
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3594 Eukaryota
ENOG410XQHI LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182765

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000236266

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14126

KEGG Orthology (KO)

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KOi
K07597

Identification of Orthologs from Complete Genome Data

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OMAi
KEGPRFQ

Database of Orthologous Groups

More...
OrthoDBi
250139at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14126

TreeFam database of animal gene trees

More...
TreeFami
TF331809

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.900.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00028 Cadherin, 3 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00205 CADHERIN
PR01818 DESMOCADHERN
PR01819 DESMOGLEIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00112 CA, 4 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49313 SSF49313, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00232 CADHERIN_1, 3 hits
PS50268 CADHERIN_2, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE1481AA1686DB80A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Z26317 mRNA Translation: CAA81226.1
BC099655 mRNA Translation: AAH99655.1
BC099656 mRNA Translation: AAH99656.1
BC099657 mRNA Translation: AAH99657.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS42423.1

Protein sequence database of the Protein Information Resource

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PIRi
S38673

NCBI Reference Sequences

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RefSeqi
NP_001934.2, NM_001943.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261590; ENSP00000261590; ENSG00000046604

Database of genes from NCBI RefSeq genomes

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GeneIDi
1829

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1829

UCSC genome browser

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UCSCi
uc002kwu.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQGNMR-A47-162[»]
5ERDX-ray2.90A/B50-602[»]
5J5JX-ray3.29A152-601[»]
6QNTelectron microscopy3.50D157-380[»]
6QNUelectron microscopy3.80D/E157-380[»]
SMRiQ14126
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi108163, 64 interactors
DIPiDIP-46250N
IntActiQ14126, 47 interactors
MINTiQ14126
STRINGi9606.ENSP00000261590

PTM databases

GlyConnecti1172
iPTMnetiQ14126
PhosphoSitePlusiQ14126
SwissPalmiQ14126

Polymorphism and mutation databases

BioMutaiDSG2
DMDMi148876773

Proteomic databases

CPTACiCPTAC-1307
EPDiQ14126
jPOSTiQ14126
MassIVEiQ14126
MaxQBiQ14126
PaxDbiQ14126
PeptideAtlasiQ14126
PRIDEiQ14126
ProteomicsDBi59829

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1829
DisGeNETi1829

GeneCards: human genes, protein and diseases

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GeneCardsi
DSG2
GeneReviewsiDSG2
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00950000182765
HOGENOMiHOG000236266
InParanoidiQ14126
KOiK07597
OMAiKEGPRFQ
OrthoDBi250139at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DSG2 human
EvolutionaryTraceiQ14126

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Desmoglein_2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1829
PharosiQ14126
PMAP-CutDBiQ14126

Protein Ontology

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PROi
PR:Q14126

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

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

Family and domain databases

Gene3Di4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR027397 Catenin_binding_dom_sf
IPR009123 Desmoglein
IPR009122 Desmosomal_cadherin
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDSG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14126
Secondary accession number(s): Q4KKU6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 29, 2007
Last modified: October 16, 2019
This is version 189 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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