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UniProtKB - Q14126 (DSG2_HUMAN)

Entry version 190 (11 Dec 2019)
Sequence version 2 (29 May 2007)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000046604.12

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 Tbio

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

More...EPDi		Q14126

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14126

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14126

MaxQB - The MaxQuant DataBase

More...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

<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

More...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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108163, 66 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

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14126 protein

<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

More...SMRi		Q14126

Database of comparative protein structure models

More...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

More...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)

More...KOi		K07597

Identification of Orthologs from Complete Genome Data

More...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

More...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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...CCDSi		CCDS42423.1

Protein sequence database of the Protein Information Resource

More...PIRi		S38673

NCBI Reference Sequences

More...RefSeqi		NP_001934.2, NM_001943.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261590; ENSP00000261590; ENSG00000046604

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1829

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1829

UCSC genome browser

More...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

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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, 66 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

More...CTDi		1829
DisGeNETi1829
EuPathDBiHostDB:ENSG00000046604.12

GeneCards: human genes, protein and diseases

More...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

More...GenAtlasi		Search...

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

More...ChiTaRSi		DSG2 human
EvolutionaryTraceiQ14126

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Desmoglein_2

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

More...GenomeRNAii		1829
PharosiQ14126 Tbio

Protein Ontology

More...PROi		PR:Q14126
RNActiQ14126 protein

The Stanford Online Universal Resource for Clones and ESTs

More...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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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: December 11, 2019
This is version 190 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, 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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