UniProtKB - Q02487 (DSC2_HUMAN)

BLAST

>sp|Q02487|DSC2_HUMAN Desmocollin-2 OS=Homo sapiens OX=9606 GN=DSC2 PE=1 SV=1
MEAARPSGSWNGALCRLLLLTLAILIFASDACKNVTLHVPSKLDAEKLVGRVNLKECFTA
ANLIHSSDPDFQILEDGSVYTTNTILLSSEKRSFTILLSNTENQEKKKIFVFLEHQTKVL
KKRHTKEKVLRRAKRRWAPIPCSMLENSLGPFPLFLQQVQSDTAQNYTIYYSIRGPGVDQ
EPRNLFYVERDTGNLYCTRPVDREQYESFEIIAFATTPDGYTPELPLPLIIKIEDENDNY
PIFTEETYTFTIFENCRVGTTVGQVCATDKDEPDTMHTRLKYSIIGQVPPSPTLFSMHPT
TGVITTTSSQLDRELIDKYQLKIKVQDMDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSY
VTSVEENTVDVEILRVTVEDKDLVNTANWRANYTILKGNENGNFKIVTDAKTNEGVLCVV
KPLNYEEKQQMILQIGVVNEAPFSREASPRSAMSTATVTVNVEDQDEGPECNPPIQTVRM
KENAEVGTTSNGYKAYDPETRSSSGIRYKKLTDPTGWVTIDENTGSIKVFRSLDREAETI
KNGIYNITVLASDQGGRTCTGTLGIILQDVNDNSPFIPKKTVIICKPTMSSAEIVAVDPD
EPIHGPPFDFSLESSTSEVQRMWRLKAINDTAARLSYQNDPPFGSYVVPITVRDRLGMSS
VTSLDVTLCDCITENDCTHRVDPRIGGGGVQLGKWAILAILLGIALLFCILFTLVCGASG
TSKQPKVIPDDLAQQNLIVSNTEAPGDDKVYSANGFTTQTVGASAQGVCGTVGSGIKNGG
QETIEMVKGGHQTSESCRGAGHHHTLDSCRGGHTEVDNCRYTYSEWHSFTQPRLGEKVYL
CNQDENHKHAQDYVLTYNYEGRGSVAGSVGCCSERQEEDGLEFLDNLEPKFRTLAEACMK
R

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History
Entry version 178 (07 Nov 2018)
Sequence version 1 (01 Feb 1994)
Previous versions | rss
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Protein

Desmocollin-2

Gene

DSC2

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. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

GO - Molecular functionⁱ

calcium ion binding Source: InterPro
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
Source: BHF-UCL
Inferred by curatorⁱ
- 23863954

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
- 23863954
cardiac muscle cell-cardiac muscle cell adhesion
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21062920
cell adhesion
Source: ProtInc
Traceable author statementⁱ
- 2037591
cellular response to starvation Source: Ensembl
cornification Source: Reactome
homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
keratinization Source: Reactome
regulation of heart rate by cardiac conduction
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 23863954
regulation of ventricular cardiac muscle cell action potential
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 23863954

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Cell adhesion
Ligand	Calcium, Metal-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope

Reactomeⁱ

R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Desmocollin-21 Publication Alternative name(s): Cadherin family member 2 Desmocollin-3 Desmosomal glycoprotein II Desmosomal glycoprotein III
Gene namesⁱ	Name:DSC2Imported Synonyms:CDHF2, DSC3
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:ENSG00000134755.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3036 DSC2
MIMⁱ	125645 gene
neXtProtⁱ	NX_Q02487

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	136 – 694	ExtracellularSequence analysisAdd BLAST	559
Transmembraneⁱ	695 – 715	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	716 – 901	CytoplasmicSequence analysisAdd BLAST	186

Keywords - Cellular componentⁱ

Cell junction, Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_065687	203	R → C in ARVD11; fails to undergo complete processing into a mature form; fails to localize at the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs142331975EnsemblClinVar.	1
Natural variantⁱVAR_065688	231	I → T in ARVD11. 1 Publication	1
Natural variantⁱVAR_065689	275	T → M in ARVD11; can be processed into a mature form but shows a higher pro-protein to mature protein ratio; only a proportion of the partly functional mutant is incorporated into the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs397517404EnsemblClinVar.	1
Natural variantⁱVAR_065690	340	T → A in ARVD11. 1 PublicationCorresponds to variant dbSNP:rs368299411EnsemblClinVar.	1
Natural variantⁱVAR_078340	364	V → M in ARVD11. 1 Publication	1

Keywords - Diseaseⁱ

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1824
GeneReviewsⁱ	DSC2
MalaCards human disease database More...MalaCardsⁱ	DSC2
MIMⁱ	610476 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000134755
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
PharmGKBⁱ	PA27489

Polymorphism and mutation databases

BioMutaⁱ	DSC2
DMDMⁱ	461968

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Length
Signal peptideⁱ	1 – 27	Sequence analysisAdd BLAST	27
PropeptideⁱPRO_0000003869	28 – 135	Sequence analysisAdd BLAST	108
ChainⁱPRO_0000003870	136 – 901	Desmocollin-2Add BLAST	766

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	34	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	166	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	392	N-linked (GlcNAc...) (complex) asparagine2 Publications	1
Glycosylationⁱ	546	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	629	N-linked (GlcNAc...) asparagine1 Publication	1
Modified residueⁱ	864	PhosphoserineCombined sources	1
Modified residueⁱ	868	PhosphoserineCombined sources	1
Modified residueⁱ	873	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Cleavage on pair of basic residues, Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	Q02487
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q02487
PaxDbⁱ	Q02487
PeptideAtlas More...PeptideAtlasⁱ	Q02487
PRIDEⁱ	Q02487
ProteomicsDBⁱ	58097 58098 [Q02487-2]

PTM databases

CarbonylDBⁱ	Q02487
GlyConnectⁱ	1171
iPTMnetⁱ	Q02487
PhosphoSitePlusⁱ	Q02487
SwissPalmⁱ	Q02487

Expressionⁱ

Tissue specificityⁱ

Expressed in epithelia, myocardium and lymph nodes.

Gene expression databases

Bgeeⁱ	ENSG00000134755 Expressed in 201 organ(s), highest expression level in gingival epithelium
CleanExⁱ	HS_DSC2 HS_DSC3
Genevisibleⁱ	Q02487 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA011911 HPA012615

HPAⁱ

HPA011911
HPA012615

Interactionⁱ

Subunit structureⁱ

Interacts with DSP, PKP2 and JUP.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
	F1M7L9	2	EBI-6900677,EBI-6900770	From Rattus norvegicus.
GJA1	P17302	2	EBI-6900677,EBI-1103439
GJA1	Q6TYA9	3	EBI-6900677,EBI-6901331	From Chlorocebus aethiops.

GO - Molecular functionⁱ

cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication
Source: BHF-UCL
Inferred by curatorⁱ
- 23863954

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108158, 25 interactors
IntActⁱ	Q02487, 14 interactors
STRINGⁱ	9606.ENSP00000280904

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	142 – 147	Combined sources	6
Beta strandⁱ	152 – 158	Combined sources	7
Turnⁱ	163 – 166	Combined sources	4
Beta strandⁱ	172 – 175	Combined sources	4
Turnⁱ	176 – 178	Combined sources	3
Beta strandⁱ	179 – 182	Combined sources	4
Beta strandⁱ	184 – 188	Combined sources	5
Turnⁱ	190 – 192	Combined sources	3
Beta strandⁱ	194 – 197	Combined sources	4
Turnⁱ	203 – 205	Combined sources	3
Beta strandⁱ	212 – 214	Combined sources	3
Beta strandⁱ	230 – 234	Combined sources	5
Beta strandⁱ	241 – 244	Combined sources	4
Beta strandⁱ	246 – 253	Combined sources	8
Beta strandⁱ	261 – 264	Combined sources	4
Beta strandⁱ	267 – 269	Combined sources	3
Helixⁱ	276 – 278	Combined sources	3
Beta strandⁱ	281 – 289	Combined sources	9
Beta strandⁱ	295 – 297	Combined sources	3
Turnⁱ	299 – 301	Combined sources	3
Beta strandⁱ	303 – 307	Combined sources	5
Turnⁱ	313 – 315	Combined sources	3
Beta strandⁱ	318 – 327	Combined sources	10
Helixⁱ	328 – 330	Combined sources	3
Beta strandⁱ	336 – 346	Combined sources	11
Beta strandⁱ	354 – 365	Combined sources	12
Beta strandⁱ	370 – 376	Combined sources	7
Turnⁱ	387 – 389	Combined sources	3
Beta strandⁱ	390 – 398	Combined sources	9
Beta strandⁱ	404 – 408	Combined sources	5
Turnⁱ	410 – 412	Combined sources	3
Beta strandⁱ	415 – 419	Combined sources	5
Turnⁱ	425 – 427	Combined sources	3
Beta strandⁱ	429 – 441	Combined sources	13
Beta strandⁱ	454 – 463	Combined sources	10
Beta strandⁱ	472 – 481	Combined sources	10
Turnⁱ	498 – 500	Combined sources	3
Beta strandⁱ	518 – 520	Combined sources	3
Turnⁱ	522 – 524	Combined sources	3
Beta strandⁱ	527 – 529	Combined sources	3
Beta strandⁱ	544 – 552	Combined sources	9
Beta strandⁱ	558 – 568	Combined sources	11
Turnⁱ	586 – 588	Combined sources	3
Beta strandⁱ	590 – 595	Combined sources	6
Helixⁱ	602 – 604	Combined sources	3
Beta strandⁱ	609 – 611	Combined sources	3
Turnⁱ	617 – 622	Combined sources	6
Beta strandⁱ	624 – 636	Combined sources	13
Beta strandⁱ	643 – 645	Combined sources	3
Beta strandⁱ	648 – 653	Combined sources	6
Beta strandⁱ	659 – 664	Combined sources	6
Beta strandⁱ	672 – 675	Combined sources	4

Show more details

3D structure databases

ProteinModelPortalⁱ	Q02487
SMRⁱ	Q02487
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	136 – 243	Cadherin 1PROSITE-ProRule annotationAdd BLAST	108
Domainⁱ	244 – 355	Cadherin 2PROSITE-ProRule annotationAdd BLAST	112
Domainⁱ	356 – 471	Cadherin 3PROSITE-ProRule annotationAdd BLAST	116
Domainⁱ	472 – 579	Cadherin 4PROSITE-ProRule annotationAdd BLAST	108
Domainⁱ	580 – 694	Cadherin 5PROSITE-ProRule annotationAdd BLAST	115

Domainⁱ

Calcium may be bound by the cadherin-like repeats.Curated

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	ENSGT00760000118906
HOGENOMⁱ	HOG000231253
HOVERGENⁱ	HBG102801
InParanoidⁱ	Q02487
KEGG Orthology (KO) More...KOⁱ	K07601
OMAⁱ	VNEAPYS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G01IB
PhylomeDBⁱ	Q02487
TreeFamⁱ	TF316817

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 IPR000233 Cadherin_cytoplasmic-dom IPR014868 Cadherin_pro_dom IPR027397 Catenin_binding_dom_sf IPR009122 Desmosomal_cadherin
PANTHERⁱ	PTHR24025 PTHR24025, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00028 Cadherin, 4 hits PF01049 Cadherin_C, 1 hit PF08758 Cadherin_pro, 1 hit
PRINTSⁱ	PR00205 CADHERIN PR01818 DESMOCADHERN
SMARTⁱ	View protein in SMART SM00112 CA, 5 hits SM01055 Cadherin_pro, 1 hit
SUPFAMⁱ	SSF49313 SSF49313, 6 hits
PROSITEⁱ	View protein in PROSITE PS00232 CADHERIN_1, 3 hits PS50268 CADHERIN_2, 5 hits

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

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

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

Isoform 2A (identifier: Q02487-1) [UniParc]FASTA Add to basket

Also known as: DGII

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAARPSGSW NGALCRLLLL TLAILIFASD ACKNVTLHVP SKLDAEKLVG 
        60         70         80         90        100
RVNLKECFTA ANLIHSSDPD FQILEDGSVY TTNTILLSSE KRSFTILLSN 
       110        120        130        140        150
TENQEKKKIF VFLEHQTKVL KKRHTKEKVL RRAKRRWAPI PCSMLENSLG 
       160        170        180        190        200
PFPLFLQQVQ SDTAQNYTIY YSIRGPGVDQ EPRNLFYVER DTGNLYCTRP 
       210        220        230        240        250
VDREQYESFE IIAFATTPDG YTPELPLPLI IKIEDENDNY PIFTEETYTF 
       260        270        280        290        300
TIFENCRVGT TVGQVCATDK DEPDTMHTRL KYSIIGQVPP SPTLFSMHPT 
       310        320        330        340        350
TGVITTTSSQ LDRELIDKYQ LKIKVQDMDG QYFGLQTTST CIINIDDVND 
       360        370        380        390        400
HLPTFTRTSY VTSVEENTVD VEILRVTVED KDLVNTANWR ANYTILKGNE 
       410        420        430        440        450
NGNFKIVTDA KTNEGVLCVV KPLNYEEKQQ MILQIGVVNE APFSREASPR 
       460        470        480        490        500
SAMSTATVTV NVEDQDEGPE CNPPIQTVRM KENAEVGTTS NGYKAYDPET 
       510        520        530        540        550
RSSSGIRYKK LTDPTGWVTI DENTGSIKVF RSLDREAETI KNGIYNITVL 
       560        570        580        590        600
ASDQGGRTCT GTLGIILQDV NDNSPFIPKK TVIICKPTMS SAEIVAVDPD 
       610        620        630        640        650
EPIHGPPFDF SLESSTSEVQ RMWRLKAIND TAARLSYQND PPFGSYVVPI 
       660        670        680        690        700
TVRDRLGMSS VTSLDVTLCD CITENDCTHR VDPRIGGGGV QLGKWAILAI 
       710        720        730        740        750
LLGIALLFCI LFTLVCGASG TSKQPKVIPD DLAQQNLIVS NTEAPGDDKV 
       760        770        780        790        800
YSANGFTTQT VGASAQGVCG TVGSGIKNGG QETIEMVKGG HQTSESCRGA 
       810        820        830        840        850
GHHHTLDSCR GGHTEVDNCR YTYSEWHSFT QPRLGEKVYL CNQDENHKHA 
       860        870        880        890        900
QDYVLTYNYE GRGSVAGSVG CCSERQEEDG LEFLDNLEPK FRTLAEACMK 

R

Length:901

Mass (Da):99,962

Last modified:February 1, 1994 - v1

Checksum:ⁱ30F7E3D33ECA67CC

Isoform 2B (identifier: Q02487-2) [UniParc]FASTA Add to basket

Also known as: DGIII

The sequence of this isoform differs from the canonical sequence as follows:
837-847: KVYLCNQDENH → ESIRGHTLIKN
848-901: Missing.

« Hide

        10         20         30         40         50
MEAARPSGSW NGALCRLLLL TLAILIFASD ACKNVTLHVP SKLDAEKLVG 
        60         70         80         90        100
RVNLKECFTA ANLIHSSDPD FQILEDGSVY TTNTILLSSE KRSFTILLSN 
       110        120        130        140        150
TENQEKKKIF VFLEHQTKVL KKRHTKEKVL RRAKRRWAPI PCSMLENSLG 
       160        170        180        190        200
PFPLFLQQVQ SDTAQNYTIY YSIRGPGVDQ EPRNLFYVER DTGNLYCTRP 
       210        220        230        240        250
VDREQYESFE IIAFATTPDG YTPELPLPLI IKIEDENDNY PIFTEETYTF 
       260        270        280        290        300
TIFENCRVGT TVGQVCATDK DEPDTMHTRL KYSIIGQVPP SPTLFSMHPT 
       310        320        330        340        350
TGVITTTSSQ LDRELIDKYQ LKIKVQDMDG QYFGLQTTST CIINIDDVND 
       360        370        380        390        400
HLPTFTRTSY VTSVEENTVD VEILRVTVED KDLVNTANWR ANYTILKGNE 
       410        420        430        440        450
NGNFKIVTDA KTNEGVLCVV KPLNYEEKQQ MILQIGVVNE APFSREASPR 
       460        470        480        490        500
SAMSTATVTV NVEDQDEGPE CNPPIQTVRM KENAEVGTTS NGYKAYDPET 
       510        520        530        540        550
RSSSGIRYKK LTDPTGWVTI DENTGSIKVF RSLDREAETI KNGIYNITVL 
       560        570        580        590        600
ASDQGGRTCT GTLGIILQDV NDNSPFIPKK TVIICKPTMS SAEIVAVDPD 
       610        620        630        640        650
EPIHGPPFDF SLESSTSEVQ RMWRLKAIND TAARLSYQND PPFGSYVVPI 
       660        670        680        690        700
TVRDRLGMSS VTSLDVTLCD CITENDCTHR VDPRIGGGGV QLGKWAILAI 
       710        720        730        740        750
LLGIALLFCI LFTLVCGASG TSKQPKVIPD DLAQQNLIVS NTEAPGDDKV 
       760        770        780        790        800
YSANGFTTQT VGASAQGVCG TVGSGIKNGG QETIEMVKGG HQTSESCRGA 
       810        820        830        840 
GHHHTLDSCR GGHTEVDNCR YTYSEWHSFT QPRLGEESIR GHTLIKN

Show »

Length:847

Mass (Da):93,769

Checksum:ⁱA53588B1D490CD8F

Sequence cautionⁱ

The sequence CAA40141 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence CAA40142 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_029480	11	N → S1 PublicationCorresponds to variant dbSNP:rs868333EnsemblClinVar.	1
Natural variantⁱVAR_065687	203	R → C in ARVD11; fails to undergo complete processing into a mature form; fails to localize at the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs142331975EnsemblClinVar.	1
Natural variantⁱVAR_065688	231	I → T in ARVD11. 1 Publication	1
Natural variantⁱVAR_065689	275	T → M in ARVD11; can be processed into a mature form but shows a higher pro-protein to mature protein ratio; only a proportion of the partly functional mutant is incorporated into the desmosomes. 1 PublicationCorresponds to variant dbSNP:rs397517404EnsemblClinVar.	1
Natural variantⁱVAR_065690	340	T → A in ARVD11. 1 PublicationCorresponds to variant dbSNP:rs368299411EnsemblClinVar.	1
Natural variantⁱVAR_062391	358	T → I1 PublicationCorresponds to variant dbSNP:rs139399951EnsemblClinVar.	1
Natural variantⁱVAR_078340	364	V → M in ARVD11. 1 Publication	1
Natural variantⁱVAR_065691	596	A → V1 PublicationCorresponds to variant dbSNP:rs148185335EnsemblClinVar.	1
Natural variantⁱVAR_065692	638	Q → H1 PublicationCorresponds to variant dbSNP:rs147742157EnsemblClinVar.	1
Natural variantⁱVAR_024388	776	I → V2 PublicationsCorresponds to variant dbSNP:rs1893963EnsemblClinVar.	1
Natural variantⁱVAR_062392	798	R → Q3 PublicationsCorresponds to variant dbSNP:rs61731921EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_000657	837 – 847	KVYLCNQDENH → ESIRGHTLIKN in isoform 2B. 1 PublicationAdd BLAST		11
Alternative sequenceⁱVSP_000658	848 – 901	Missing in isoform 2B. 1 PublicationAdd BLAST		54

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X56807 mRNA Translation: CAA40141.1 Different initiation. X56807 mRNA Translation: CAA40142.1 Different initiation. BC063291 mRNA Translation: AAH63291.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11892.1 [Q02487-1] CCDS11893.1 [Q02487-2]
PIRⁱ	A40390 IJHUDB B40390 IJHUDA
NCBI Reference Sequences More...RefSeqⁱ	NP_004940.1, NM_004949.4 [Q02487-2] NP_077740.1, NM_024422.4 [Q02487-1]
UniGeneⁱ	Hs.95612

Genome annotation databases

Ensemblⁱ	ENST00000251081; ENSP00000251081; ENSG00000134755 [Q02487-2] ENST00000280904; ENSP00000280904; ENSG00000134755 [Q02487-1]
GeneIDⁱ	1824
KEGGⁱ	hsa:1824
UCSC genome browser More...UCSCⁱ	uc002kwk.5 human [Q02487-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q02487	cDNA FLJ55716, highly similar to Desmocollin-2		HUMAN		912	UniRef90_Q02487
Desmocollin 2		PONAB		904
DSC2 isoform 1		PANTR		901
Desmocollin-2 isoform Dsc2a preproprotein		MACMU		901
Uncharacterized protein		COLAP		901
+72

Protein	Similar proteins		Species	Score	Length	Source
Q02487	Desmocollin-3		BOVIN		896	UniRef50_Q02487
Desmocollin-2		MOUSE		902
Desmocollin-3		HUMAN		896
Desmocollin 2		PONAB		904
Uncharacterized protein		CHLSB		901
+633

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	X56807 mRNA Translation: CAA40141.1 Different initiation. X56807 mRNA Translation: CAA40142.1 Different initiation. BC063291 mRNA Translation: AAH63291.1
CCDSⁱ	CCDS11892.1 [Q02487-1] CCDS11893.1 [Q02487-2]
PIRⁱ	A40390 IJHUDB B40390 IJHUDA
RefSeqⁱ	NP_004940.1, NM_004949.4 [Q02487-2] NP_077740.1, NM_024422.4 [Q02487-1]
UniGeneⁱ	Hs.95612

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
	5ERP	X-ray	2.70	A/B	236-680	[»]
	5J5J	X-ray	3.29	A	136-235	[»]
ProteinModelPortalⁱ	Q02487
SMRⁱ	Q02487
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108158, 25 interactors
IntActⁱ	Q02487, 14 interactors
STRINGⁱ	9606.ENSP00000280904

PTM databases

CarbonylDBⁱ	Q02487
GlyConnectⁱ	1171
iPTMnetⁱ	Q02487
PhosphoSitePlusⁱ	Q02487
SwissPalmⁱ	Q02487

Polymorphism and mutation databases

BioMutaⁱ	DSC2
DMDMⁱ	461968

Proteomic databases

EPDⁱ	Q02487
MaxQBⁱ	Q02487
PaxDbⁱ	Q02487
PeptideAtlasⁱ	Q02487
PRIDEⁱ	Q02487
ProteomicsDBⁱ	58097 58098 [Q02487-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000251081; ENSP00000251081; ENSG00000134755 [Q02487-2] ENST00000280904; ENSP00000280904; ENSG00000134755 [Q02487-1]
GeneIDⁱ	1824
KEGGⁱ	hsa:1824
UCSCⁱ	uc002kwk.5 human [Q02487-1]

Organism-specific databases

CTDⁱ	1824
DisGeNETⁱ	1824
EuPathDBⁱ	HostDB:ENSG00000134755.14
GeneCardsⁱ	DSC2
GeneReviewsⁱ	DSC2
HGNCⁱ	HGNC:3036 DSC2
HPAⁱ	HPA011911 HPA012615
MalaCardsⁱ	DSC2
MIMⁱ	125645 gene 610476 phenotype
neXtProtⁱ	NX_Q02487
OpenTargetsⁱ	ENSG00000134755
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
PharmGKBⁱ	PA27489
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3594 Eukaryota ENOG410XQHI LUCA
GeneTreeⁱ	ENSGT00760000118906
HOGENOMⁱ	HOG000231253
HOVERGENⁱ	HBG102801
InParanoidⁱ	Q02487
KOⁱ	K07601
OMAⁱ	VNEAPYS
OrthoDBⁱ	EOG091G01IB
PhylomeDBⁱ	Q02487
TreeFamⁱ	TF316817

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope

Reactomeⁱ

R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

ChiTaRSⁱ	DSC2 human
GeneWikiⁱ	DSC2
GenomeRNAiⁱ	1824
Protein Ontology More...PROⁱ	PR:Q02487
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000134755 Expressed in 201 organ(s), highest expression level in gingival epithelium
CleanExⁱ	HS_DSC2 HS_DSC3
Genevisibleⁱ	Q02487 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 IPR000233 Cadherin_cytoplasmic-dom IPR014868 Cadherin_pro_dom IPR027397 Catenin_binding_dom_sf IPR009122 Desmosomal_cadherin
PANTHERⁱ	PTHR24025 PTHR24025, 1 hit
Pfamⁱ	View protein in Pfam PF00028 Cadherin, 4 hits PF01049 Cadherin_C, 1 hit PF08758 Cadherin_pro, 1 hit
PRINTSⁱ	PR00205 CADHERIN PR01818 DESMOCADHERN
SMARTⁱ	View protein in SMART SM00112 CA, 5 hits SM01055 Cadherin_pro, 1 hit
SUPFAMⁱ	SSF49313 SSF49313, 6 hits
PROSITEⁱ	View protein in PROSITE PS00232 CADHERIN_1, 3 hits PS50268 CADHERIN_2, 5 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	DSC2_HUMAN
Accessionⁱ	Q02487Primary (citable) accession number: Q02487
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 1, 1994
	Last sequence update:	February 1, 1994
	Last modified:	November 7, 2018
	This is version 178 of the entry and version 1 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 - Q02487 (DSC2_HUMAN)

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Desmocollin-2

DSC2

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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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GO - Biological processi

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Plasma Membrane

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Keywords - PTMi

Proteomic databases

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<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

Gene expression databases

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<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

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3D structure databases

<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

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Keywords - Domaini

Phylogenomic databases

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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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

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ