DSC2 Gene - Desmocollin 2

Protein Coding (Updated: Nov 9, 2022)
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

  • GeneCards Symbol: DSC2 2
  • Desmocollin 2 2 3 5
  • CDHF2 2 3 4 5
  • DSC3 3 4 5
  • Cadherin Family Member 2 3 4
  • Desmocollin-2 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 Arrhythmogenic Right Ventricular Cardiomyopathy. Among its related pathways are Keratinization and Nervous system development. 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. ( DSC2_HUMAN,Q02487 )

Gene Wiki entry for DSC2 Gene

Additional gene information for DSC2 Gene

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

Genomics for DSC2 Gene

Subsections:

  1. Promoters/Enhancers
  2. Location

GeneHancer (GH) Regulatory Elements (see citations)

Download GeneHancer 2017 data
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 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 258.80 480.56 +1.8 2 5.9 ATF2 POLR2A ZNF600 YY1 HIC1 NFIC CTCF MBD2 NONO MNT DSC2 HSALNG0120717 DSCAS ENSG00000263924 piR-38351-228 DSC3
GH18J031103 Enhancer 0.6 ENCODE 250.70 159.72 -1.3 0 0.2 ATF2 HIC1 ZEB1 ZNF316 NFE2 JUND PRDM6 ZNF24 MAFG ZNF362 HSALNG0120717 DSC2 DSCAS ENSG00000263698 CM021585-011 DSC1
GH18J031202 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.60 25.48 -103.4 6 7.4 ZNF580 DPF2 KLF17 ZNF184 ZNF600 ZIC2 ZNF10 BCL11A CEBPG CEBPA ENSG00000289619 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120721 HSALNG0120720-001
GH18J031039 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 10.80 17.07 +61.2 12 4.5 POLR2A ZNF600 ZIC2 ZBTB10 ZNF341 FEZF1 KLF9 SIN3A SP2 YY1 DSC3 LOC124904345 ENSG00000263924 DSC2 TRAPPC8 HSALNG0120711 lnc-DSC2-2
GH18J031247 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.70 13.63 -146.1 9 4.0 CEBPG CEBPB EP300 SPI1 PRDM6 BHLHE40 JUNB TRIM28 HLF CREM DSC2 DSG1 HSALNG0120720-002 piR-57133-275 LOC105372049 ENSG00000289619 DSC1

GeneHancers around DSC2 on the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr18:31,058,840-31,102,522
(GRCh38/hg38)
Size:
43,683 bases
Orientation:
Minus strand

Previous Assembly
chr18:28,638,806-28,682,384
(GRCh37/hg19 by Entrez Gene)
Size:
43,579 bases
Orientation:
Minus strand

chr18:28,645,940-28,682,378
(GRCh37/hg19 by Ensembl)
Size:
36,439 bases
Orientation:
Minus strand

Genomic View for DSC2 Gene

Genes around DSC2 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19) IMPROVED

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
Genomic Neighborhood
•
Exon Structure
•
Gene Densities
IMPROVED

RefSeq DNA sequence for DSC2 Gene

Proteins for DSC2 Gene

Subsections:

  1. 3D Structures
  2. Alternative Splicing
  3. Protein References
  4. Post-Translational Modifications

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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.
    Sequence caution:

    • The sequence CAA40141.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus. {ECO:0000305}
    • The sequence CAA40142.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus. {ECO:0000305}

    Three dimensional structure from PDB (representative) and AlphaFold (predicted) for DSC2 Gene

    NEW
    Model Confidence:
    Very high (pLDDT > 90)
    Confident (90 > pLDDT > 70)
    Low (70 > pLDDT > 50)
    Very low (pLDDT < 50)
    PDB ID PDBe RCSB-PDB OCA Proteopedia
    5ERP (3D) (3D) (3D)
    5J5J (3D) (3D) (3D)
    7A7D (3D) (3D) (3D)

    Alternative splice isoforms for DSC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSC2 Gene

Protein Expression for DSC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DSC2 Gene

  • Glycosylation at Asn34, Asn166, Asn392, Asn546, Asn629, and Asn675
    NX_Q02487 (NX_Q02487-1)
  • Ubiquitination at Lys890
    NX_Q02487 (NX_Q02487-1)
  • Modification sites at PhosphoSitePlus
    Q02487
  • Glycosylation from GlyConnect
  • Glycosylation from GlyGen (Q02487) 6 sites, 43 N-linked glycans (5 sites) NEW

Other Protein References for DSC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

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
  • Human disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for DSC2 Gene

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

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 that share domains with DSC2: view

Function for DSC2 Gene

Subsections:

  1. GWAS Phenotypes
  2. GO Terms
  3. MGI/GenomeRNAi Phenotypes
  4. HPO Terms

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DSC2 Gene according to 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. DSC2_HUMAN,Q02487

Molecular function for DSC2 Gene according to GENATLAS

Biochemistry:
  • desmocollin 2 (desmoglein related,desmosomal glycoprotein,cadherin superfamily of calcium dependent cell-adhesion molecule) intercellular adhesion molecule,widely expressed DSC2

Phenotypes From GWAS Catalog for DSC2 Gene

Phenotype Gene Relation Best Score Mean Score # of Snps # of Studies SNP IDs
blood protein measurement
  • GWAS
12.7 9.849485 2 2
Alzheimer disease 7.3 7.30103 1 1
coronary artery calcification 6.2 6.154902 1 1
Alzheimer diseaseeducational attainment 6.1 6.09691 1 1
pantothenic acid mesurement
  • GWAS
5.4 5.39794 1 1

Gene Ontology (GO) - Molecular Function for DSC2 Gene

IMPROVED
GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 3 5 enables calcium ion binding IBA, IEA 21873635
GO:0005515 3 5 enables protein binding IPI 21062920
GO:0046872 5 metal ion binding IEA
GO:0086083 3 5 enables cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC 23863954
Genes that share ontologies with DSC2: view
Genes that share phenotypes with DSC2: view

Human Phenotype Ontology for DSC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms
HP:0000006 Autosomal dominant inheritance HP:0001463 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant; Autosomal dominant form; Autosomal dominant type; monoallelic_autosomal
HP:0000007 Autosomal recessive inheritance HP:0031362 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive; Autosomal recessive form; Autosomal recessive predisposition; biallelic_autosomal
HP:0410280 Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. Onset before adulthood; Paediatric onset
HP:0000951 Abnormality of the skin HP:0007580 An abnormality of the skin. Abnormality of the skin; Dermatopathy; Dermopathy; Skin abnormality
HP:0000962 Hyperkeratosis HP:0007523 Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Animal Models for DSC2 Gene

MGI Knock Outs for DSC2:
  • Dsc2 Dsc2<tm1.2Leu>
  • Dsc2 Dsc2<tm1e(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for DSC2

miRNA products for research

No data available for Enzyme Numbers (IUBMB) , NCBI Functional elements , Transcription Factor Targeted Genes and HOMER Transcription for DSC2 Gene

Localization for DSC2 Gene

Subsections:

  1. Cellular Components

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
cytosol 4
extracellular 4
endoplasmic reticulum 3
nucleus 2
cytoskeleton 2
golgi apparatus 1
lysosome 1
endosome 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DSC2 Gene

IMPROVED
GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 3 5 located_in cornified envelope TAS, IEA
GO:0005829 3 5 located_in cytosol IDA
GO:0005886 3 5 located_in plasma membrane IDA, TAS
GO:0005911 3 5 is_active_in cell-cell junction IBA 21873635
GO:0005912 3 5 located_in adherens junction IEA
Genes that share ontologies with DSC2: view

Pathways & Interactions for DSC2 Gene

Subsections:

  1. SuperPathways
  2. String Interactions
  3. Interacting Proteins
  4. GO Terms
Genes that share pathways with DSC2: view

Additional Pathway Information for DSC2 Gene

Interacting Proteins for DSC2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network for DSC2
Selected Interacting proteins: Q02487-DSC2_HUMAN ENSP00000280904 for DSC2 Gene via UniProtKB STRING IID

Symbol External ID(s) Details
GJA1
CSNK2A2
DSG1
DSG2
DSG3
DSP
FAT1
FAT2
FAT3
GMCL1
ITGB4
JUP
NECTIN2
PKP1
PKP2
PKP3
PTPRM
RYK
SKA1
TAFA4
TMEM30B
ACTC1
ACTN2
ADAMTS1
ADAMTS14
GPS-Prot Interaction Network for DSC2

Gene Ontology (GO) - Biological Process for DSC2 Gene

IMPROVED
GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 3 5 involved_in cell adhesion TAS, IEA 2037591
GO:0007156 3 5 involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
GO:0009267 3 5 involved_in cellular response to starvation IEA
GO:0086042 3 5 involved_in cardiac muscle cell-cardiac muscle cell adhesion IMP 21062920
GO:0086073 3 5 involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP 23863954
Genes that share ontologies with DSC2: view

No data available for SIGNOR curated interactions for DSC2 Gene

Drugs & Compounds for DSC2 Gene

Subsections:

  1. Drugs
  2. Compounds

Products:

  1. Drug products for research

(1) Drugs for DSC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium 24 Nutra
Genes that share compounds with DSC2: view

Transcripts for DSC2 Gene

Subsections:

  1. Alternative Splicing
  2. External Links

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for DSC2 Gene

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

miRNA products for research

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

Subsections:

  1. Expression in stem cells
  2. Protein expression
  3. Phenotype-based gene-organ relationships

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for DSC2 Gene
mRNA expression by GTEx for DSC2 GenemRNA expression by BioGPS 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(4.4)
  • Bone marrow(4.3)
  • Saliva(4.2)
  • Heart(3.6)
  • Muscle(3.6)
  • Intestine(3.3)
  • Stomach(2.7)
  • Lung(2.6)
  • Kidney(2.5)
  • Nervous system(2.3)
  • Blood(2.3)
  • Spleen(2.2)
  • Thyroid gland(2.1)

Bgee gene expression patterns for DSC2 gene:

  • Expressed in gingival epithelium, oral cavity, tongue squamous epithelium and 171 other tissues.

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 that share expression patterns with DSC2: view

Primer products for research

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

Orthologs for DSC2 Gene

Subsections:

  1. CladeOScope co-evolved genes

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 28 29
  • 99.11 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DSC2 28 29
  • 84.89 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DSC2 28 29
  • 82.18 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dsc2 28 16 29
  • 78.79 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dsc2 28
  • 76.43 (n)
Oppossum
(Monodelphis domestica)
 Mammalia DSC2 29
  • 65 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 29
  • 64 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves DSC2 28
  • 61.14 (n)
-- 29
  • 50 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 29
  • 46 (a)
 ManyToMany
-- 29
  • 46 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dsc3 28
  • 54.84 (n)
Zebrafish
(Danio rerio)
 Actinopterygii dsc2l 29
  • 35 (a)
 OneToMany
Species where no ortholog for DSC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for DSC2

CladeOScope co-evolved genes for DSC2 gene NEW

Clade Top 10 Co-Evolved Genes Normalized Phylogenetic Profile HeatMap (PPH)
Top Genes From All Clades
Eukaryota
Chordata
Mammalia
Fungi
Viridiplantae
Archelosauria
Ecdysozoa
Nematoda
Arthropoda
Platyhelminthes
Alveolata
Stramenopiles
Fungi_Incertae_Sedis
Ascomycota
Basidiomycota
Liliopsida
Eudicotyledons

Paralogs for DSC2 Gene

Paralogs for DSC2 Gene

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

  • DSC2_HUMAN
  • A9X9K9_HUMAN
  • A9X9L0_HUMAN
  • A9X9L1_HUMAN
Genes that share paralogs with DSC2: view

Variants for DSC2 Gene

Subsections:

  1. Variation Tolerance
  2. External Links

Products:

  1. SNP Genotyping and Copy Number Assays for research

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

IMPROVED
SNP ID Clinical significance and condition Chr 18 pos Variation AA Info # Cit Type
1068704

Pathogenic: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

31,087,714(-) TA/TNM_024422.6(DSC2):c.729del (p.Phe243fs)
FRAMESHIFT
1074769

Pathogenic: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

31,093,598(-) CATGTA/CNM_024422.6(DSC2):c.110_114del (p.Leu37fs)
FRAMESHIFT
1075964

Pathogenic: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

31,079,938(-) TG/TNM_024422.6(DSC2):c.1571del (p.Thr524fs)
FRAMESHIFT
1319918

Pathogenic: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

31,087,758(-) AG/ANM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer)
NONSENSE
1322769

Pathogenic: Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Uncertain Significance: Cardiomyopathy

31,101,902(-) C/TNM_024422.6(DSC2):c.69+1G>A
SPLICE_DONOR 1

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv4336672 OTHER sequence alteration 32461652
nsv526587 CNV loss 19592680
nsv2244 CNV deletion 18451855
nsv4254290 CNV deletion 32461652
nsv4257333 CNV deletion 32461652
nsv4271492 CNV deletion 32461652
nsv4261491 CNV deletion 32461652
nsv477843 CNV novel sequence insertion 20440878
esv2665597 CNV deletion 23128226
nsv4531797 CNV deletion 32461652
esv3642117 CNV loss 21293372
SVs/CNVs around DSC2 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

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

Mastermind
See all genomic literature for DSC2 gene in Mastermind NEW
Human Gene Mutation Database (HGMD)
DSC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSC2
Leiden Open Variation Database (LOVD)
DSC2

SNP Genotyping and Copy Number Assays for research

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

Disorders for DSC2 Gene

Subsections:

  1. Uniprot disorders
  2. External links

Products:

  1. Animal Models for research

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

Disorder Aliases PubMed IDs
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 1 4 6 64 101 109
  • Arrhythmogenic Right Ventricular Dysplasia 11
  • ARVD11
  • Arrhythmogenic Right Ventricular Cardiomyopathy 11
  • Arvc11
  • Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair
  • Familial Arrhythmogenic Right Ventricular Dysplasia 11
  • Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair
  • ARVD11PK
  • Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair
  • Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11
 16199547 17033975 17186466 18957847 23863954 23911551 31386562
Arrhythmogenic Right Ventricular Cardiomyopathy 1 21 64 101 109
  • Arrhythmogenic Right Ventricular Dysplasia
  • Arvc
  • Arvd
  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
  • Arvc Cardiomyopathy
  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
  • Arvd/C
  • Right Ventricular Dysplasia, Arrhythmogenic
  • Ventricular Dysplasia, Right, Arrhythmogenic
  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic
  • Dysplasia, Arrhythmogenic Right Ventricular
 17186466 19863551 20400443 21062920 23911551 26743238 31333075 31568572 20031616 17963498 17413274 18957847
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 99
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form
 20301310
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 99
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form
 20301310
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 99
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form
  • Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form
 20301310
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for DSC2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
The FABRIC Cancer Portal
(FABRIC)
The Organ-Disease Annotation database of tissue-selective hereditary diseases
(ODiseA) NEW

Animal Models for research

  • Taconic Biosciences Mouse Models for DSC2
Genes that share disorders with DSC2: view

No data available for GENATLAS for DSC2 Gene

Publications for DSC2 Gene

  1. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 4 39 69
  2. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. (PMID: 18678517) Posch MG … Ozcelik C (Molecular genetics and metabolism 2008) 3 4 21 39
  3. 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 21 69
  4. Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. (PMID: 21062920) Gehmlich K … McKenna WJ (Cardiovascular research 2011) 3 4 69
  5. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (PMID: 20400443) Fressart V … Charron P (Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2010) 21 39 69

ExternalLinks

See all genomic literature for DSC2 gene in Mastermind NEW

Products for DSC2 Gene

Sources for DSC2 Gene