This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other ... See more...

Aliases for DSC2 Gene

Aliases for DSC2 Gene

  • Desmocollin 2 2 3 5
  • Cadherin Family Member 2 3 4
  • Desmocollin-2 3 4
  • CDHF2 3 4
  • DSC3 3 4
  • Desmosomal Glycoprotein II/III 3
  • Desmosomal Glycoprotein III 4
  • Desmosomal Glycoprotein II 4
  • Desmocollin-3 4
  • DGII/III 3
  • ARVD11 3
  • DG2 3

External Ids for DSC2 Gene

Previous HGNC Symbols for DSC2 Gene

  • DSC3

Previous GeneCards Identifiers for DSC2 Gene

  • GC18M028670
  • GC18M028466
  • GC18M026899
  • GC18M026897
  • GC18M026900
  • GC18M025501

Summaries for DSC2 Gene

Entrez Gene Summary for DSC2 Gene

  • This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GeneCards Summary for DSC2 Gene

DSC2 (Desmocollin 2) is a Protein Coding gene. Diseases associated with DSC2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 and Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form. Among its related pathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Gene Ontology (GO) annotations related to this gene include calcium ion binding and cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication. An important paralog of this gene is DSC3.

UniProtKB/Swiss-Prot Summary for DSC2 Gene

  • 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.

Gene Wiki entry for DSC2 Gene

Additional gene information for DSC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSC2 Gene

Genomics for DSC2 Gene

GeneHancer (GH) Regulatory Elements for DSC2 Gene

Promoters and enhancers for DSC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J031097 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 508.8 +1.8 1801 5.9 HNRNPK EP300 NRF1 POLR2G GTF2E2 PHF8 CTCF POLR2A ZBTB11 ZNF423 DSC2 DSCAS piR-38351-228
GH18J031103 Enhancer 0.7 ENCODE 500.7 -1.3 -1271 0.2 KLF4 ATF2 ZEB1 ZNF316 NFE2 HIC1 MAFG PRDM6 ZNF398 ZNF24 DSC2 DSCAS ENSG00000263698
GH18J031202 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.6 -103.4 -103388 7.4 CTCF ZSCAN5C NRF1 POLR2G ZNF639 ZNF10 ZIC2 TRIM28 KLF7 TGIF2 HSALNG0120721 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120720 LOC105372049
GH18J031039 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +61.2 61154 4.5 ZIC2 POLR2A ZBTB10 ZNF423 ZBTB26 ZNF341 OSR2 ZNF266 KLF9 SP2 DSC3 ENSG00000263924 DSC2 TRAPPC8 lnc-DSC2-2
GH18J031247 Enhancer 0.8 ENCODE dbSUPER 15.7 -146.6 -146575 3 TRIM28 EP300 CEBPG FOS CEBPB CHD2 SPI1 PRDM6 JUNB BHLHE40 DSC2 piR-57133-275 LOC105372049 lnc-DSG1-7 lnc-DSG1-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSC2

Top Transcription factor binding sites by QIAGEN in the DSC2 gene promoter:
  • Egr-4
  • FOXO4
  • GATA-1
  • Ik-2
  • Ik-3
  • NF-kappaB
  • NF-kappaB1
  • Spz1
  • STAT1beta
  • STAT3

Genomic Locations for DSC2 Gene

Genomic Locations for DSC2 Gene
chr18:31,058,840-31,102,522
(GRCh38/hg38)
Size:
43,683 bases
Orientation:
Minus strand
chr18:28,645,940-28,682,388
(GRCh37/hg19)
Size:
36,449 bases
Orientation:
Minus strand

Genomic View for DSC2 Gene

Genes around DSC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSC2 Gene

Proteins for DSC2 Gene

  • Protein details for DSC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02487-DSC2_HUMAN
    Recommended name:
    Desmocollin-2
    Protein Accession:
    Q02487

    Protein attributes for DSC2 Gene

    Size:
    901 amino acids
    Molecular mass:
    99962 Da
    Quaternary structure:
    • Interacts with DSP, PKP2 and JUP.
    SequenceCaution:
    • Sequence=CAA40141.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA40142.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DSC2 Gene

    Alternative splice isoforms for DSC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSC2 Gene

Post-translational modifications for DSC2 Gene

  • Glycosylation at Asn34, Asn166, Asn392, Asn546, Asn629, and Asn675
  • Ubiquitination at Lys890
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for DSC2 Gene

No data available for DME Specific Peptides for DSC2 Gene

Domains & Families for DSC2 Gene

Gene Families for DSC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for DSC2 Gene

Blocks:
  • Cadherin
  • Desmocollin signature
  • Desmosomal cadherin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DSC2 Gene

GenScript: Design optimal peptide antigens:
  • Desmocollin 2 (A9X9K9_HUMAN)
  • Desmocollin 2 (A9X9L0_HUMAN)
  • Desmocollin 2 (A9X9L1_HUMAN)
  • Desmosomal glycoprotein III (DSC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02487

UniProtKB/Swiss-Prot:

DSC2_HUMAN :
  • Calcium may be bound by the cadherin-like repeats.
Domain:
  • Calcium may be bound by the cadherin-like repeats.
  • 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.
genes like me logo Genes that share domains with DSC2: view

Function for DSC2 Gene

Molecular function for DSC2 Gene

UniProtKB/Swiss-Prot Function:
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.
GENATLAS Biochemistry:
desmocollin 2 (desmoglein related,desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion molecule) intercellular adhesion molecule,widely expressed

Phenotypes From GWAS Catalog for DSC2 Gene

Gene Ontology (GO) - Molecular Function for DSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0005515 protein binding IPI 21062920
GO:0046872 metal ion binding IEA --
GO:0086083 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC 23863954
genes like me logo Genes that share ontologies with DSC2: view
genes like me logo Genes that share phenotypes with DSC2: view

Human Phenotype Ontology for DSC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSC2 Gene

MGI Knock Outs for DSC2:
  • Dsc2 Dsc2<tm1e(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for DSC2

Clone Products

  • Addgene plasmids for DSC2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSC2 Gene

Localization for DSC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSC2 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSC2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for DSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005886 plasma membrane IEA,TAS --
GO:0005911 cell-cell junction IBA 21873635
GO:0005913 cell-cell adherens junction IEA --
GO:0014704 intercalated disc IDA 21062920
genes like me logo Genes that share ontologies with DSC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DSC2 Gene

Pathways & Interactions for DSC2 Gene

genes like me logo Genes that share pathways with DSC2: view

Pathways by source for DSC2 Gene

Gene Ontology (GO) - Biological Process for DSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,TAS 2037591
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0009267 cellular response to starvation IEA --
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with DSC2: view

No data available for SIGNOR curated interactions for DSC2 Gene

Drugs & Compounds for DSC2 Gene

(1) Drugs for DSC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with DSC2: view

Transcripts for DSC2 Gene

mRNA/cDNA for DSC2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for DSC2

Alternative Splicing Database (ASD) splice patterns (SP) for DSC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1:
SP2: -

Relevant External Links for DSC2 Gene

GeneLoc Exon Structure for
DSC2

Expression for DSC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSC2 Gene

This gene is overexpressed in Esophagus - Mucosa (x15.6), Vagina (x8.7), Cervix - Ectocervix (x6.5), and Minor Salivary Gland (x5.9).

Protein differential expression in normal tissues from HIPED for DSC2 Gene

This gene is overexpressed in Cervix (26.8) and Saliva (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DSC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSC2

SOURCE GeneReport for Unigene cluster for DSC2 Gene:

Hs.95612

mRNA Expression by UniProt/SwissProt for DSC2 Gene:

Q02487-DSC2_HUMAN
Tissue specificity: Expressed in epithelia, myocardium and lymph nodes.

Evidence on tissue expression from TISSUES for DSC2 Gene

  • Skin(4.7)
  • Liver(4.2)
  • Bone marrow(4)
  • Saliva(4)
  • Heart(3.2)
  • Muscle(3.1)
  • Intestine(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with DSC2: view

No data available for Protein tissue co-expression partners for DSC2 Gene

Orthologs for DSC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSC2 31 30
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DSC2 31 30
  • 84.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSC2 31 30
  • 82.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dsc2 17 31 30
  • 78.79 (n)
rat
(Rattus norvegicus)
Mammalia Dsc2 30
  • 76.43 (n)
oppossum
(Monodelphis domestica)
Mammalia DSC2 31
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves DSC2 30
  • 61.14 (n)
-- 31
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 46 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dsc3 30
  • 54.84 (n)
zebrafish
(Danio rerio)
Actinopterygii dsc2l 31
  • 35 (a)
OneToMany
Species where no ortholog for DSC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSC2 Gene

ENSEMBL:
Gene Tree for DSC2 (if available)
TreeFam:
Gene Tree for DSC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSC2: view image

Paralogs for DSC2 Gene

Paralogs for DSC2 Gene

(25) SIMAP similar genes for DSC2 Gene using alignment to 4 proteins:

  • DSC2_HUMAN
  • A9X9K9_HUMAN
  • A9X9L0_HUMAN
  • A9X9L1_HUMAN
genes like me logo Genes that share paralogs with DSC2: view

Variants for DSC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSC2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
199770 Uncertain Significance: Arrhythmogenic right ventricular cardiomyopathy, type 11 31,070,829(-) C/G MISSENSE_VARIANT
199787 Uncertain Significance: Arrhythmogenic right ventricular cardiomyopathy, type 11 31,068,135(-) T/TCTTC FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT
536271 Uncertain Significance: Arrhythmogenic right ventricular cardiomyopathy, type 11 31,069,017(-) TT/AA MISSENSE_VARIANT
636705 Uncertain Significance: not provided 31,080,326(-) C/G MISSENSE_VARIANT
636732 Uncertain Significance: not provided 31,074,755(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DSC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DSC2 Gene

Variant ID Type Subtype PubMed ID
esv2665597 CNV deletion 23128226
esv3642117 CNV loss 21293372
nsv2244 CNV deletion 18451855
nsv477843 CNV novel sequence insertion 20440878

Variation tolerance for DSC2 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.16; 80.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSC2 Gene

Human Gene Mutation Database (HGMD)
DSC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSC2 Gene

Disorders for DSC2 Gene

MalaCards: The human disease database

(43) MalaCards diseases for DSC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia, familial, 11
  • arvd11
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search DSC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSC2_HUMAN
  • Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]: A 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. {ECO:0000269 PubMed:17033975, ECO:0000269 PubMed:19863551, ECO:0000269 PubMed:21062920, ECO:0000269 PubMed:28256248}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DSC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DSC2: view

No data available for Genatlas for DSC2 Gene

Publications for DSC2 Gene

  1. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. (PMID: 18678517) Posch MG … Ozcelik C (Molecular genetics and metabolism 2008) 3 4 23 41 54
  2. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 4 41 54
  3. Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (PMID: 20031616) Bhuiyan ZA … van Tintelen JP (Circulation. Cardiovascular genetics 2009) 3 23 41 54
  4. Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PMID: 20031617) den Haan AD … Judge DP (Circulation. Cardiovascular genetics 2009) 3 4 41 54
  5. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (PMID: 17033975) Syrris P … McKenna WJ (American journal of human genetics 2006) 3 4 23 54

Products for DSC2 Gene

Sources for DSC2 Gene