UniProtKB - Q02487 (DSC2_HUMAN)
Desmocollin-2
DSC2
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: GO_Central
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL
GO - Biological processi
- bundle of His cell-Purkinje myocyte adhesion involved in cell communication Source: BHF-UCL
- cardiac muscle cell-cardiac muscle cell adhesion Source: UniProtKB
- cell adhesion Source: ProtInc
- cell-cell adhesion Source: GO_Central
- cellular response to starvation Source: Ensembl
- homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
- regulation of heart rate by cardiac conduction Source: BHF-UCL
- regulation of ventricular cardiac muscle cell action potential Source: BHF-UCL
Keywordsi
Biological process | Cell adhesion |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q02487 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SignaLinki | Q02487 |
Names & Taxonomyi
Protein namesi | Recommended name: Desmocollin-21 PublicationAlternative name(s): Cadherin family member 2 Desmocollin-3 Desmosomal glycoprotein II Desmosomal glycoprotein III |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3036, DSC2 |
MIMi | 125645, gene |
neXtProti | NX_Q02487 |
VEuPathDBi | HostDB:ENSG00000134755 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Other locations
- desmosome 1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- cornified envelope Source: Reactome
- plasma membrane Source: BHF-UCL
Other locations
- adherens junction Source: Ensembl
- cell-cell junction Source: GO_Central
- cytoplasmic vesicle Source: UniProtKB
- desmosome Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- intercalated disc Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | 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, MembranePathology & Biotechi
Involvement in diseasei
Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | 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 PublicationCorresponds to variant dbSNP:rs1390387214Ensembl. | 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 variantOrganism-specific databases
DisGeNETi | 1824 |
GeneReviewsi | DSC2 |
MalaCardsi | DSC2 |
MIMi | 610476, phenotype |
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 |
Miscellaneous databases
Pharosi | Q02487, Tbio |
Genetic variation databases
BioMutai | DSC2 |
DMDMi | 461968 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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, PhosphoproteinProteomic databases
EPDi | Q02487 |
jPOSTi | Q02487 |
MassIVEi | Q02487 |
MaxQBi | Q02487 |
PaxDbi | Q02487 |
PeptideAtlasi | Q02487 |
PRIDEi | Q02487 |
ProteomicsDBi | 58097 [Q02487-1] 58098 [Q02487-2] |
PTM databases
CarbonylDBi | Q02487 |
GlyConnecti | 1171, 41 N-Linked glycans (5 sites) |
GlyGeni | Q02487, 6 sites, 39 N-linked glycans (5 sites) |
iPTMneti | Q02487 |
PhosphoSitePlusi | Q02487 |
SwissPalmi | Q02487 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000134755, Expressed in gingival epithelium and 213 other tissues |
ExpressionAtlasi | Q02487, baseline and differential |
Genevisiblei | Q02487, HS |
Organism-specific databases
HPAi | ENSG00000134755, Tissue enhanced (esophagus, vagina) |
Interactioni
Subunit structurei
Interacts with DSP, PKP2 and JUP.
1 PublicationBinary interactionsi
Isoform 2A [Q02487-1]
With | #Exp. | IntAct |
---|---|---|
GJA1 [P17302] | 2 | EBI-6900677,EBI-1103439 |
GJA1 [Q6TYA9] from Chlorocebus aethiops. | 3 | EBI-6900677,EBI-6901331 |
F1M7L9 from Rattus norvegicus. | 2 | EBI-6900677,EBI-6900770 |
GO - Molecular functioni
- cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108158, 110 interactors |
IntActi | Q02487, 24 interactors |
STRINGi | 9606.ENSP00000280904 |
Miscellaneous databases
RNActi | Q02487, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q02487 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | 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
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT01040000240514 |
HOGENOMi | CLU_005284_0_2_1 |
InParanoidi | Q02487 |
OMAi | GEKVQQC |
OrthoDBi | 120970at2759 |
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-bd_sf IPR009122, Desmosomal_cadherin |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
837-847: KVYLCNQDENH → ESIRGHTLIKN
848-901: Missing.
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ISU0 | A0A3B3ISU0_HUMAN | Desmocollin-2 | DSC2 | 758 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | 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 PublicationCorresponds to variant dbSNP:rs1390387214Ensembl. | 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 |
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] |
Genome annotation databases
Ensembli | ENST00000251081; ENSP00000251081; ENSG00000134755 [Q02487-2] ENST00000280904; ENSP00000280904; ENSG00000134755 |
GeneIDi | 1824 |
KEGGi | hsa:1824 |
MANE-Selecti | ENST00000280904.11; ENSP00000280904.6; NM_024422.6; NP_077740.1 |
UCSCi | uc002kwk.5, human [Q02487-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi 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 | [»] | |
7A7D | electron microscopy | 26.00 | a/b/c/d/e/f/g | 136-679 | [»] | |
SMRi | Q02487 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108158, 110 interactors |
IntActi | Q02487, 24 interactors |
STRINGi | 9606.ENSP00000280904 |
PTM databases
CarbonylDBi | Q02487 |
GlyConnecti | 1171, 41 N-Linked glycans (5 sites) |
GlyGeni | Q02487, 6 sites, 39 N-linked glycans (5 sites) |
iPTMneti | Q02487 |
PhosphoSitePlusi | Q02487 |
SwissPalmi | Q02487 |
Genetic variation databases
BioMutai | DSC2 |
DMDMi | 461968 |
Proteomic databases
EPDi | Q02487 |
jPOSTi | Q02487 |
MassIVEi | Q02487 |
MaxQBi | Q02487 |
PaxDbi | Q02487 |
PeptideAtlasi | Q02487 |
PRIDEi | Q02487 |
ProteomicsDBi | 58097 [Q02487-1] 58098 [Q02487-2] |
Protocols and materials databases
ABCDi | Q02487, 4 sequenced antibodies |
Antibodypediai | 2782, 360 antibodies from 32 providers |
DNASUi | 1824 |
Genome annotation databases
Ensembli | ENST00000251081; ENSP00000251081; ENSG00000134755 [Q02487-2] ENST00000280904; ENSP00000280904; ENSG00000134755 |
GeneIDi | 1824 |
KEGGi | hsa:1824 |
MANE-Selecti | ENST00000280904.11; ENSP00000280904.6; NM_024422.6; NP_077740.1 |
UCSCi | uc002kwk.5, human [Q02487-1] |
Organism-specific databases
CTDi | 1824 |
DisGeNETi | 1824 |
GeneCardsi | DSC2 |
GeneReviewsi | DSC2 |
HGNCi | HGNC:3036, DSC2 |
HPAi | ENSG00000134755, Tissue enhanced (esophagus, vagina) |
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 |
VEuPathDBi | HostDB:ENSG00000134755 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT01040000240514 |
HOGENOMi | CLU_005284_0_2_1 |
InParanoidi | Q02487 |
OMAi | GEKVQQC |
OrthoDBi | 120970at2759 |
PhylomeDBi | Q02487 |
TreeFami | TF316817 |
Enzyme and pathway databases
PathwayCommonsi | Q02487 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
SignaLinki | Q02487 |
Miscellaneous databases
BioGRID-ORCSi | 1824, 10 hits in 1048 CRISPR screens |
ChiTaRSi | DSC2, human |
GeneWikii | DSC2 |
GenomeRNAii | 1824 |
Pharosi | Q02487, Tbio |
PROi | PR:Q02487 |
RNActi | Q02487, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000134755, Expressed in gingival epithelium and 213 other tissues |
ExpressionAtlasi | Q02487, baseline and differential |
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-bd_sf IPR009122, Desmosomal_cadherin |
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 |
MobiDBi | 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: | February 23, 2022 | |
This is version 198 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, Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references