UniProtKB - Q14126 (DSG2_HUMAN)

BLAST

>sp|Q14126|DSG2_HUMAN Desmoglein-2 OS=Homo sapiens OX=9606 GN=DSG2 PE=1 SV=2
MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALRE
GEDLSKKNPIAKIHSDLAEERGLKITYKYTGKGITEPPFGIFVFNKDTGELNVTSILDRE
ETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPVFTQDVFVGSVEELSAAHTLVMK
INATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTGEIYTTSVTLDREEHSSYTLTVE
ARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADE
IGSDNWLANFTFASGNEGGYFHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAF
HKSIRSKYKPTPIPIKVKVKNVKEGIHFKSSVISIYVSESMDRSSKGQIIGNFQAFDEDT
GLPAHARYVKLEDRDNWISVDSVTSEIKLAKLPDFESRYVQNGTYTVKIVAISEDYPRKT
ITGTVLINVEDINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPNSGPFSFSVIDKPPGM
AEKWKIARQESTSVLLQQSEKKLGRSEIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCR
EAQHDSYVGLGPAAIALMILAFLLLLLVPLLLLMCHCGKGAKGFTPIPGTIEMLHPWNNE
GAPPEDKVVPSFLPVDQGGSLVGRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEE
HRSLLSGRATQFTGATGAIMTTETTKTARATGASRDMAGAQAAAVALNEEFLRNYFTDKA
ASYTEEDENHTAKDCLLVYSQEETESLNASIGCCSFIEGELDDRFLDDLGLKFKTLAEVC
LGQKIDINKEIEQRQKPATETSMNTASHSLCEQTMVNSENTYSSGSSFPVPKSLQEANAE
KVTQEIVTERSVSSRQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQS
LIVTERVYAPASTLVDQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERE
SFLAPSSGVQPTLAMPNIAVGQNVTVTERVLAPASTLQSSYQIPTENSMTARNTTVSGAG
VPGPLPDFGLEESGHSNSTITTSSTRVTKHSTVQHSYS

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History
Entry version 180 (07 Nov 2018)
Sequence version 2 (29 May 2007)
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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
Inferred from physical interactionⁱ
- 17559062
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
Source: BHF-UCL
Inferred by curatorⁱ
- 16505173

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

bundle of His cell-Purkinje myocyte adhesion involved in cell communication
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 16505173
cell adhesion
Source: UniProtKB
Inferred from direct assayⁱ
- 17559062
cornification Source: Reactome
desmosome organization
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 16505173
homophilic cell adhesion via plasma membrane adhesion molecules
Source: BHF-UCL
Inferred from direct assayⁱ
- 17559062
keratinization Source: Reactome
maternal process involved in female pregnancy Source: Ensembl
Purkinje myocyte development
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 16505173
regulation of heart rate by cardiac conduction
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 16505173
- 23381804
regulation of ventricular cardiac muscle cell action potential
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 16505173
- 23381804
response to progesterone Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cell adhesion
Ligand	Calcium, Metal-binding

Enzyme and pathway databases

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

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 18

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000046604.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3049 DSG2
MIMⁱ	125671 gene
neXtProtⁱ	NX_Q14126

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	50 – 609	ExtracellularSequence analysisAdd BLAST	560
Transmembraneⁱ	610 – 634	HelicalSequence analysisAdd BLAST	25
Topological domainⁱ	635 – 1118	CytoplasmicSequence analysisAdd BLAST	484

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.

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.

Keywords - Diseaseⁱ

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1829
GeneReviewsⁱ	DSG2
MalaCards human disease database More...MalaCardsⁱ	DSG2
MIMⁱ	610193 phenotype 612877 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000046604
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
PharmGKBⁱ	PA27502

Polymorphism and mutation databases

BioMutaⁱ	DSG2
DMDMⁱ	148876773

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Length
Signal peptideⁱ	1 – 23	Sequence analysisAdd BLAST	23
PropeptideⁱPRO_0000003845	24 – 49	Sequence analysisAdd BLAST	26
ChainⁱPRO_0000003846	50 – 1118	Desmoglein-2Add BLAST	1069

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	112	N-linked (GlcNAc...) asparagine2 Publications	1
Glycosylationⁱ	182	N-linked (GlcNAc...) asparagine3 Publications	1
Glycosylationⁱ	309	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	462	N-linked (GlcNAc...) (complex) asparagine2 Publications	1
Glycosylationⁱ	514	N-linked (GlcNAc...) asparagineSequence analysis	1
Modified residueⁱ	680	PhosphoserineCombined sources	1
Modified residueⁱ	700	PhosphoserineCombined sources	1
Modified residueⁱ	703	PhosphoserineCombined sources	1
Modified residueⁱ	723	PhosphoserineCombined sources	1
Modified residueⁱ	726	PhosphoserineCombined sources	1
Modified residueⁱ	804	PhosphothreonineCombined sources	1
Modified residueⁱ	806	PhosphoserineCombined sources	1
Modified residueⁱ	810	PhosphoserineCombined sources	1
Modified residueⁱ	815	PhosphoserineCombined sources	1
Modified residueⁱ	922	PhosphothreonineCombined sources	1
Modified residueⁱ	1118	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	Q14126
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q14126
PaxDbⁱ	Q14126
PeptideAtlas More...PeptideAtlasⁱ	Q14126
PRIDEⁱ	Q14126
ProteomicsDBⁱ	59829

PTM databases

GlyConnectⁱ	1172
iPTMnetⁱ	Q14126
PhosphoSitePlusⁱ	Q14126
SwissPalmⁱ	Q14126

Miscellaneous databases

PMAP-CutDBⁱ	Q14126

PMAP-CutDBⁱ

Q14126

Expressionⁱ

Tissue specificityⁱ

All of the tissues tested and carcinomas.

Gene expression databases

Bgeeⁱ	ENSG00000046604 Expressed in 183 organ(s), highest expression level in mucosa of sigmoid colon
CleanExⁱ	HS_DSG2
ExpressionAtlasⁱ	Q14126 baseline and differential
Genevisibleⁱ	Q14126 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB025122 HPA004896

HPAⁱ

CAB025122
HPA004896

Interactionⁱ

GO - Molecular functionⁱ

cell adhesion molecule binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 17559062
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
Source: BHF-UCL
Inferred by curatorⁱ
- 16505173

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108163, 52 interactors
Database of interacting proteins More...DIPⁱ	DIP-46250N
IntActⁱ	Q14126, 46 interactors
Molecular INTeraction database More...MINTⁱ	Q14126
STRINGⁱ	9606.ENSP00000261590

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	56 – 59	Combined sources	4
Helixⁱ	65 – 67	Combined sources	3
Turnⁱ	76 – 82	Combined sources	7
Beta strandⁱ	86 – 91	Combined sources	6
Turnⁱ	92 – 94	Combined sources	3
Beta strandⁱ	95 – 98	Combined sources	4
Beta strandⁱ	100 – 104	Combined sources	5
Turnⁱ	106 – 108	Combined sources	3
Beta strandⁱ	110 – 113	Combined sources	4
Turnⁱ	119 – 121	Combined sources	3
Beta strandⁱ	123 – 132	Combined sources	10
Beta strandⁱ	134 – 136	Combined sources	3
Beta strandⁱ	138 – 140	Combined sources	3
Beta strandⁱ	143 – 150	Combined sources	8
Beta strandⁱ	158 – 160	Combined sources	3
Beta strandⁱ	162 – 169	Combined sources	8
Beta strandⁱ	177 – 180	Combined sources	4
Turnⁱ	192 – 194	Combined sources	3
Beta strandⁱ	197 – 205	Combined sources	9
Beta strandⁱ	211 – 213	Combined sources	3
Turnⁱ	215 – 217	Combined sources	3
Beta strandⁱ	219 – 222	Combined sources	4
Turnⁱ	229 – 231	Combined sources	3
Beta strandⁱ	233 – 242	Combined sources	10
Beta strandⁱ	257 – 263	Combined sources	7
Beta strandⁱ	278 – 282	Combined sources	5
Beta strandⁱ	289 – 296	Combined sources	8
Turnⁱ	304 – 306	Combined sources	3
Beta strandⁱ	307 – 315	Combined sources	9
Beta strandⁱ	321 – 326	Combined sources	6
Turnⁱ	327 – 330	Combined sources	4
Beta strandⁱ	331 – 336	Combined sources	6
Turnⁱ	342 – 345	Combined sources	4
Beta strandⁱ	350 – 358	Combined sources	9
Turnⁱ	362 – 366	Combined sources	5
Beta strandⁱ	373 – 380	Combined sources	8
Beta strandⁱ	391 – 400	Combined sources	10
Turnⁱ	401 – 403	Combined sources	3
Beta strandⁱ	409 – 412	Combined sources	4
Turnⁱ	418 – 420	Combined sources	3
Beta strandⁱ	426 – 431	Combined sources	6
Beta strandⁱ	438 – 440	Combined sources	3
Turnⁱ	442 – 444	Combined sources	3
Beta strandⁱ	446 – 451	Combined sources	6
Beta strandⁱ	464 – 477	Combined sources	14
Beta strandⁱ	480 – 490	Combined sources	11
Beta strandⁱ	498 – 500	Combined sources	3
Beta strandⁱ	502 – 507	Combined sources	6
Beta strandⁱ	513 – 518	Combined sources	6
Beta strandⁱ	525 – 528	Combined sources	4
Helixⁱ	540 – 543	Combined sources	4
Beta strandⁱ	544 – 549	Combined sources	6
Beta strandⁱ	551 – 560	Combined sources	10
Beta strandⁱ	564 – 570	Combined sources	7
Beta strandⁱ	575 – 577	Combined sources	3
Beta strandⁱ	584 – 591	Combined sources	8
Beta strandⁱ	595 – 598	Combined sources	4

Show more details

3D structure databases

ProteinModelPortalⁱ	Q14126
SMRⁱ	Q14126
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q14126

EvolutionaryTraceⁱ

Q14126

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	50 – 160	Cadherin 1PROSITE-ProRule annotationAdd BLAST	111
Domainⁱ	161 – 273	Cadherin 2PROSITE-ProRule annotationAdd BLAST	113
Domainⁱ	274 – 388	Cadherin 3PROSITE-ProRule annotationAdd BLAST	115
Domainⁱ	389 – 503	Cadherin 4PROSITE-ProRule annotationAdd BLAST	115
Repeatⁱ	881 – 912	Desmoglein repeat 1Add BLAST	32
Repeatⁱ	913 – 942	Desmoglein repeat 2Add BLAST	30
Repeatⁱ	943 – 968	Desmoglein repeat 3Add BLAST	26
Repeatⁱ	969 – 992	Desmoglein repeat 4Add BLAST	24
Repeatⁱ	993 – 1021	Desmoglein repeat 5Add BLAST	29
Repeatⁱ	1022 – 1051	Desmoglein repeat 6Add BLAST	30

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

eggNOGⁱ	KOG3594 Eukaryota ENOG410XQHI LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144083
HOGENOMⁱ	HOG000236266
HOVERGENⁱ	HBG005532
InParanoidⁱ	Q14126
KEGG Orthology (KO) More...KOⁱ	K07597
OMAⁱ	LLLMCHC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G01F3
PhylomeDBⁱ	Q14126
TreeFamⁱ	TF331809

Family and domain databases

Gene3Dⁱ	4.10.900.10, 1 hit
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
PANTHERⁱ	PTHR24025 PTHR24025, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00028 Cadherin, 3 hits
PRINTSⁱ	PR00205 CADHERIN PR01818 DESMOCADHERN PR01819 DESMOGLEIN
SMARTⁱ	View protein in SMART SM00112 CA, 4 hits
SUPFAMⁱ	SSF49313 SSF49313, 5 hits
PROSITEⁱ	View 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 all Align All

Q14126-1 [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	J3KSI6	J3KSI6_HUMAN		Desmoglein-2 Desmoglein-2	DSG2	232	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	4 – 10	SPGRAYA → TRDRVR in CAA81226 (PubMed:8143788).Curated	7
Sequence conflictⁱ	593	C → V in CAA81226 (PubMed:8143788).Curated	1
Sequence conflictⁱ	643	G → A in CAA81226 (PubMed:8143788).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_029365	46	R → Q in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913008EnsemblClinVar.	1
Natural variantⁱVAR_029366	49	R → H in ARVD10. 4 PublicationsCorresponds to variant dbSNP:rs121913006EnsemblClinVar.	1
Natural variantⁱVAR_062387	56	V → 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_048508	89	Y → C. Corresponds to variant dbSNP:rs2230232EnsemblClinVar.	1
Natural variantⁱVAR_062388	158	V → G1 PublicationCorresponds to variant dbSNP:rs191143292EnsemblClinVar.	1
Natural variantⁱVAR_048509	293	I → V2 PublicationsCorresponds to variant dbSNP:rs2230234EnsemblClinVar.	1
Natural variantⁱVAR_065686	335	T → A in ARVD10. 1 PublicationCorresponds to variant dbSNP:rs191564916EnsemblClinVar.	1
Natural variantⁱVAR_029367	507	C → Y in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913009EnsemblClinVar.	1
Natural variantⁱVAR_048510	515	V → I. Corresponds to variant dbSNP:rs2230235EnsemblClinVar.	1
Natural variantⁱVAR_062389	713	E → K2 PublicationsCorresponds to variant dbSNP:rs79241126EnsemblClinVar.	1
Natural variantⁱVAR_048511	773	R → K2 PublicationsCorresponds to variant dbSNP:rs2278792EnsemblClinVar.	1
Natural variantⁱVAR_029368	812	G → C in ARVD10. 2 PublicationsCorresponds to variant dbSNP:rs121913010EnsemblClinVar.	1
Natural variantⁱVAR_048512	863	M → L. Corresponds to variant dbSNP:rs16962093EnsemblClinVar.	1
Natural variantⁱVAR_048513	903	T → I. Corresponds to variant dbSNP:rs34065672EnsemblClinVar.	1
Natural variantⁱVAR_062390	920	V → 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS42423.1
PIRⁱ	S38673
NCBI Reference Sequences More...RefSeqⁱ	NP_001934.2, NM_001943.4
UniGeneⁱ	Hs.412597

Genome annotation databases

Ensemblⁱ	ENST00000261590; ENSP00000261590; ENSG00000046604
GeneIDⁱ	1829
KEGGⁱ	hsa:1829
UCSC genome browser More...UCSCⁱ	uc002kwu.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q14126	HDGC		MACFA		1146	UniRef90_Q14126
HDGC		MACMU		1133
Uncharacterized protein		RHIBE		1118
Desmoglein 2		PANTR		1118
Uncharacterized protein		CERAT		1118
+31

Protein	Similar proteins		Species	Score	Length	Source
Q14126	Desmoglein-2		MOUSE		1122	UniRef50_Q14126
HDGC		MACFA		1146
HDGC		MACMU		1133
Uncharacterized protein		MACNE		1118
Desmoglein 2		PANTR		1118
+84

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
CCDSⁱ	CCDS42423.1
PIRⁱ	S38673
RefSeqⁱ	NP_001934.2, NM_001943.4
UniGeneⁱ	Hs.412597

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2YQG	NMR	-	A	47-162	[»]
	5ERD	X-ray	2.90	A/B	50-602	[»]
	5J5J	X-ray	3.29	A	152-601	[»]
ProteinModelPortalⁱ	Q14126
SMRⁱ	Q14126
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108163, 52 interactors
DIPⁱ	DIP-46250N
IntActⁱ	Q14126, 46 interactors
MINTⁱ	Q14126
STRINGⁱ	9606.ENSP00000261590

PTM databases

GlyConnectⁱ	1172
iPTMnetⁱ	Q14126
PhosphoSitePlusⁱ	Q14126
SwissPalmⁱ	Q14126

Polymorphism and mutation databases

BioMutaⁱ	DSG2
DMDMⁱ	148876773

Proteomic databases

EPDⁱ	Q14126
MaxQBⁱ	Q14126
PaxDbⁱ	Q14126
PeptideAtlasⁱ	Q14126
PRIDEⁱ	Q14126
ProteomicsDBⁱ	59829

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000261590; ENSP00000261590; ENSG00000046604
GeneIDⁱ	1829
KEGGⁱ	hsa:1829
UCSCⁱ	uc002kwu.5 human

Organism-specific databases

CTDⁱ	1829
DisGeNETⁱ	1829
EuPathDBⁱ	HostDB:ENSG00000046604.12
GeneCardsⁱ	DSG2
GeneReviewsⁱ	DSG2
H-InvDBⁱ	HIX0039840
HGNCⁱ	HGNC:3049 DSG2
HPAⁱ	CAB025122 HPA004896
MalaCardsⁱ	DSG2
MIMⁱ	125671 gene 610193 phenotype 612877 phenotype
neXtProtⁱ	NX_Q14126
OpenTargetsⁱ	ENSG00000046604
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
PharmGKBⁱ	PA27502
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3594 Eukaryota ENOG410XQHI LUCA
GeneTreeⁱ	ENSGT00910000144083
HOGENOMⁱ	HOG000236266
HOVERGENⁱ	HBG005532
InParanoidⁱ	Q14126
KOⁱ	K07597
OMAⁱ	LLLMCHC
OrthoDBⁱ	EOG091G01F3
PhylomeDBⁱ	Q14126
TreeFamⁱ	TF331809

Enzyme and pathway databases

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

Reactomeⁱ

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

Miscellaneous databases

ChiTaRSⁱ	DSG2 human
EvolutionaryTraceⁱ	Q14126
GeneWikiⁱ	Desmoglein_2
GenomeRNAiⁱ	1829
PMAP-CutDBⁱ	Q14126
Protein Ontology More...PROⁱ	PR:Q14126
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000046604 Expressed in 183 organ(s), highest expression level in mucosa of sigmoid colon
CleanExⁱ	HS_DSG2
ExpressionAtlasⁱ	Q14126 baseline and differential
Genevisibleⁱ	Q14126 HS

Family and domain databases

Gene3Dⁱ	4.10.900.10, 1 hit
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
PANTHERⁱ	PTHR24025 PTHR24025, 1 hit
Pfamⁱ	View protein in Pfam PF00028 Cadherin, 3 hits
PRINTSⁱ	PR00205 CADHERIN PR01818 DESMOCADHERN PR01819 DESMOGLEIN
SMARTⁱ	View protein in SMART SM00112 CA, 4 hits
SUPFAMⁱ	SSF49313 SSF49313, 5 hits
PROSITEⁱ	View protein in PROSITE PS00232 CADHERIN_1, 3 hits PS50268 CADHERIN_2, 4 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	DSG2_HUMAN
Accessionⁱ	Q14126Primary (citable) accession number: Q14126 Secondary accession number(s): Q4KKU6
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
	Last sequence update:	May 29, 2007
	Last modified:	November 7, 2018
	This is version 180 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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UniProtKB - Q14126 (DSG2_HUMAN)

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Desmoglein-2

DSG2

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<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

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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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ