Desmoglein-2 precursor - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q14126 (DSG2_HUMAN)

Last modified June 16, 2009. Version 84. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
Desmoglein-2
Alternative name(s):
HDGC

Gene names

Name:	DSG2
Synonyms:	CDHF5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

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Protein attributes

Sequence length	1118 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
Subcellular location	Cell membrane; Single-pass type I membrane protein. Cell junction › desmosome.
Tissue specificity	All of the tissues tested and carcinomas.
Domain	Calcium may be bound by the cadherin-like repeats Potential.
Involvement in disease	Defects in DSG2 are the cause of familial arrhythmogenic right ventricular dysplasia 10 (ARVD10) [MIM:610193]; also known as arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Ref.13
Sequence similarities	Contains 4 cadherin domains.

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Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell junction Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Cardiomyopathy Disease mutation
Domain	Repeat Signal Transmembrane
Ligand	Calcium
PTM	Cleavage on pair of basic residues Glycoprotein Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular component	desmosome Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 23

Potential

Propeptide

24 – 49

Potential

PRO_0000003845

Chain

50 – 1118

1069

Desmoglein-2

PRO_0000003846

Regions

Topological domain

50 – 609

560

Extracellular Potential

Transmembrane

610 – 634

Potential

Topological domain

635 – 1118

484

Cytoplasmic Potential

Domain

50 – 160

111

Cadherin 1

Domain

161 – 273

113

Cadherin 2

Domain

274 – 388

115

Cadherin 3

Domain

389 – 503

115

Cadherin 4

Repeat

881 – 912

Desmoglein repeat 1

Repeat

913 – 942

Desmoglein repeat 2

Repeat

943 – 968

Desmoglein repeat 3

Repeat

969 – 992

Desmoglein repeat 4

Repeat

993 – 1021

Desmoglein repeat 5

Repeat

1022 – 1051

Desmoglein repeat 6

Amino acid modifications

Modified residue

680

Phosphoserine Ref.7 Ref.8 Ref.9

Modified residue

968

Phosphotyrosine Ref.5

Modified residue

1013

Phosphotyrosine Ref.7

Glycosylation

112

N-linked (GlcNAc...) Ref.4

Glycosylation

182

N-linked (GlcNAc...) Ref.6

Glycosylation

309

N-linked (GlcNAc...) Potential

Glycosylation

462

N-linked (GlcNAc...) Potential

Glycosylation

514

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

R → Q in ARVD10. Ref.13

VAR_029365

Natural variant

R → H in ARVD10. Ref.13

VAR_029366

Natural variant

Y → C: dbSNP rs2230232.

VAR_048508

Natural variant

293

I → V: dbSNP rs2230234.

VAR_048509

Natural variant

507

C → Y in ARVD10. Ref.13

VAR_029367

Natural variant

515

V → I: dbSNP rs2230235.

VAR_048510

Natural variant

773

R → K: dbSNP rs2278792.

VAR_048511

Natural variant

812

G → C in ARVD10. Ref.13

VAR_029368

Natural variant

863

M → L: dbSNP rs16962093.

VAR_048512

Natural variant

903

T → I: dbSNP rs34065672.

VAR_048513

Experimental info

Sequence conflict

4 – 10

SPGRAYA → TRDRVR in CAA81226. Ref.1

Sequence conflict

593

C → V in CAA81226. Ref.1

Sequence conflict

643

G → A in CAA81226. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

Q14126-1 [UniParc].

Last modified May 29, 2007. Version 2.
Checksum: E1481AA1686DB80A
Show »

FASTA

1,118

122,294

        10         20         30         40         50         60 
MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE 

        70         80         90        100        110        120 
GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE 

       130        140        150        160        170        180 
ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK 

       190        200        210        220        230        240 
INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE 

       250        260        270        280        290        300 
ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE 

       310        320        330        340        350        360 
IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF 

       370        380        390        400        410        420 
HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT 

       430        440        450        460        470        480 
GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT 

       490        500        510        520        530        540 
ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM 

       550        560        570        580        590        600 
AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR 

       610        620        630        640        650        660 
EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE 

       670        680        690        700        710        720 
GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS SASIVKGQHE MSEMDGRWEE 

       730        740        750        760        770        780 
HRSLLSGRAT QFTGATGAIM TTETTKTARA TGASRDMAGA QAAAVALNEE FLRNYFTDKA 

       790        800        810        820        830        840 
ASYTEEDENH TAKDCLLVYS QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC 

       850        860        870        880        890        900 
LGQKIDINKE IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE 

       910        920        930        940        950        960 
KVTQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT VILGPSQPQS 

       970        980        990       1000       1010       1020 
LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN PLEGTQHLQD VPYVMVRERE 

      1030       1040       1050       1060       1070       1080 
SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV LAPASTLQSS YQIPTENSMT ARNTTVSGAG 

      1090       1100       1110 
VPGPLPDFGL EESGHSNSTI TTSSTRVTKH STVQHSYS

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins." Schaefer S., Koch P.J., Franke W.W. Exp. Cell Res. 211:391-399(1994) [PubMed: 8143788] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Colon carcinoma.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene." Koch P.J., Goldschmidt M.D., Walsh M.J., Zimbelmann R., Franke W.W. Eur. J. Cell Biol. 55:200-208(1991) [PubMed: 1935985] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 778-1118.
[4]	"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed: 12754519] [Abstract] Cited for: GLYCOSYLATION AT ASN-112.
[5]	"Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC)." Amanchy R., Kalume D.E., Iwahori A., Zhong J., Pandey A. J. Proteome Res. 4:1661-1671(2005) [PubMed: 16212419] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-968, MASS SPECTROMETRY. Tissue: Epithelium.
[6]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-182, MASS SPECTROMETRY. Tissue: Plasma.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680 AND TYR-1013, MASS SPECTROMETRY. Tissue: Epithelium.
[8]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, MASS SPECTROMETRY.
[9]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-680, MASS SPECTROMETRY.
[10]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[11]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-112 AND ASN-182, MASS SPECTROMETRY. Tissue: Liver.
[12]	"Solution structure of the first cadherin domain from human desmoglein-2." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 47-162.
[13]	"DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy." Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., Tucker A., Russell S.D., Bluemke D.A., Dietz H.C., Calkins H., Judge D.P. Am. J. Hum. Genet. 79:136-142(2006) [PubMed: 16773573] [Abstract] Cited for: VARIANTS ARVD10 GLN-46; HIS-49; TYR-507 AND CYS-812.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases

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

IPI

IPI00028931.

PIR

S38673.

RefSeq

NP_001934.2.

UniGene

Hs.412597

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2YQG	NMR	-	A	47-162	[»]

ModBase

Search...

PTM databases

PhosphoSite

Q14126.

Proteomic databases

PRIDE

Q14126.

Genome annotation databases

Ensembl

ENSG00000046604. Homo sapiens. [Contig view]

GeneID

1829.

KEGG

hsa:1829.

NMPDR

fig|9606.3.peg.14914.

Organism-specific databases

GeneCards

GC18P027332.

H-InvDB

HIX0039749.
HIX0039840.

HGNC

HGNC:3049. DSG2.

HPA

HPA004896.

MIM

125671. gene.
610193. phenotype.

Orphanet

247. Arrhythmogenic right ventricular dysplasia.

PharmGKB

PA27502.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q14126.

OMA

Q14126. DLGLKFK.

Enzyme and pathway databases

Reactome

REACT_578. Apoptosis.

Gene expression databases

ArrayExpress

Q14126.

Bgee

Q14126.

CleanEx

HS_DSG2.

GermOnline

ENSG00000046604. Homo sapiens.

Family and domain databases

InterPro

IPR002126. Cadherin.
IPR009122. Desmo_cadherin.
IPR009123. Desmoglein.
IPR015488. Desmoglein2.
[Graphical view]

Gene3D

G3DSA:2.60.40.60. Cadherin. 5 hits.

PANTHER

PTHR10596:SF33. Desmoglein2. 1 hit.

Pfam

PF00028. Cadherin. 4 hits.
[Graphical view]

PRINTS

PR00205. CADHERIN.
PR01818. DESMOCADHERN.
PR01819. DESMOGLEIN.

SMART

SM00112. CA. 4 hits.
[Graphical view]

PROSITE

PS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 4 hits.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

7465.

PMAP-CutDB

Q14126.

SOURCE

Search...

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Entry information

Entry name

DSG2_HUMAN

Accession

Primary (citable) accession number: Q14126
Secondary accession number(s): Q4KKU6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 29, 2007
Last modified:	June 16, 2009
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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