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Aliases for DSC2 Gene

Aliases for DSC2 Gene

  • Desmocollin 2 2 3 5
  • Cadherin Family Member 2 3 4
  • CDHF2 3 4
  • DSC3 3 4
  • Desmosomal Glycoprotein II/III 3
  • Desmosomal Glycoprotein III 4
  • Desmosomal Glycoprotein II 4
  • Desmocollin-2 3
  • 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 11 and Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form. Among its related pathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). 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 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 , fRNAdb sequence ontologies and piRNA Summary for DSC2 Gene

Genomics for DSC2 Gene

Regulatory Elements for DSC2 Gene

Enhancers for DSC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H031202 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -103.4 -103369 7 HDGF PKNOX1 FEZF1 TCF12 GLIS2 GATA2 FOS KLF7 RUNX3 SP3 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 PIR46251 LOC105372049
GH18H031247 0.9 ENCODE dbSUPER 15.7 -146.7 -146665 2 HLF CEBPB JUNB CEBPG EP300 PRDM6 EED HMBOX1 CREM TRIM28 DSC2 LOC105372049 DSG1
GH18H031097 1.3 ENCODE dbSUPER 8.9 +1.7 1712 5 HDGF PKNOX1 FOXA2 ARID4B FEZF1 ZNF766 SP3 SP5 ZHX2 MIER3 DSC2 DSCAS GC18P031094
GH18H031255 0.7 ENCODE dbSUPER 16 -153.7 -153685 1 JUNB BATF DSC2 DSG1 LOC105372049
GH18H031240 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -141.1 -141083 5 PKNOX1 FOXA2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF143 FOS DSG1 DSC2 LOC105372049
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSC2 on UCSC Golden Path with GeneCards custom track

Promoters for DSC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000101935 932 2201 HDGF PKNOX1 FOXA2 ARID4B FEZF1 ZNF766 KLF7 ATF7 RUNX3 SP3

Genomic Location for DSC2 Gene

Chromosome:
18
Start:
31,058,840 bp from pter
End:
31,102,432 bp from pter
Size:
43,593 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA40142.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

  • Ubiquitination at posLast=890890
  • Glycosylation at posLast=3434, posLast=166166, isoforms=2392, isoforms=2546, and isoforms=2629
  • Modification sites at PhosphoSitePlus

Other Protein References for DSC2 Gene

Antibody Products

Protein Products

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

Suggested Antigen Peptide Sequences for DSC2 Gene

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

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

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 --
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 tm1e(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for DSC2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSC2
  • Applied Biological Materials Clones for DSC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1

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 TAS,IDA --
GO:0005913 cell-cell adherens junction IEA --
GO:0014704 intercalated disc IDA 21062920
GO:0016020 membrane IEA --
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 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 Nutra 0
genes like me logo Genes that share compounds with DSC2: view

Transcripts for DSC2 Gene

mRNA/cDNA for DSC2 Gene

Unigene Clusters for DSC2 Gene

Desmocollin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSC2
  • Applied Biological Materials Clones for DSC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
DSC2

Expression for DSC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DSC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DSC2 Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia DSC2 33 34
  • 84.89 (n)
cow
(Bos Taurus)
Mammalia DSC2 33 34
  • 82.18 (n)
mouse
(Mus musculus)
Mammalia Dsc2 33 16 34
  • 78.79 (n)
rat
(Rattus norvegicus)
Mammalia Dsc2 33
  • 76.43 (n)
oppossum
(Monodelphis domestica)
Mammalia DSC2 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves DSC2 33
  • 61.14 (n)
-- 34
  • 50 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia dsc3 33
  • 54.84 (n)
zebrafish
(Danio rerio)
Actinopterygii dsc2l 34
  • 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)

Paralogs for DSC2 Gene

Paralogs for DSC2 Gene

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

Variants for DSC2 Gene

Sequence variations from dbSNP and Humsavar for DSC2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs142331975 Uncertain significance, Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] 31,089,462(+) CTCAC(A/G)ATCTA reference, missense
rs368299411 Likely benign, Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] 31,082,985(+) ACAAG(C/T)TGAAG reference, missense
rs397517404 Likely pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476] 31,086,694(-) TGACA(A/C/T)GATGC reference, missense
VAR_065688 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]
VAR_078340 Arrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11) [MIM:610476]

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)

Relevant External Links for DSC2 Gene

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

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

Disorders for DSC2 Gene

MalaCards: The human disease database

(19) MalaCards diseases for DSC2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 11
  • arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
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 dysplasia/cardiomyopathy11
  • arvd11
- 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.

Relevant External Links for DSC2

Genetic Association Database (GAD)
DSC2
Human Genome Epidemiology (HuGE) Navigator
DSC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSC2
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 22 45 60
  2. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 4 45 60
  3. 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 45 60
  4. 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 22 45 60
  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 22 60

Products for DSC2 Gene

  • Addgene plasmids for DSC2

Sources for DSC2 Gene

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