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    DSC2 desmocollin 2 [ Homo sapiens (human) ]

    Gene ID: 1824, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DSC2provided by HGNC
    Official Full Name
    desmocollin 2provided by HGNC
    Primary source
    HGNC:HGNC:3036
    See related
    Ensembl:ENSG00000134755 MIM:125645; AllianceGenome:HGNC:3036
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DG2; DSC3; CDHF2; ARVD11; DGII/III
    Summary
    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]
    Expression
    Biased expression in esophagus (RPKM 95.9), colon (RPKM 34.9) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DSC2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31058840..31102421, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31249110..31292671, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28638806..28682384, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:28565824-28566020 Neighboring gene RNA, U6 small nuclear 857, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28577152-28577726 Neighboring gene desmocollin 3 Neighboring gene uncharacterized LOC124904345 Neighboring gene uncharacterized LOC124904377 Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene desmocollin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:28746843-28747342 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:28786090-28787289 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28805437-28806008 Neighboring gene uncharacterized LOC105372049

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. Brodehl A, et al. J Mol Cell Cardiol, 2020 Apr. PMID 32201174
    2. Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. Beffagna G, et al. BMC Med Genet, 2007 Oct 26. PMID 17963498, Free PMC Article
    3. Repression of the desmocollin 2 gene expression in human colon cancer cells is relieved by the homeodomain transcription factors Cdx1 and Cdx2. Funakoshi S, et al. Mol Cancer Res, 2008 Sep. PMID 18819935
    4. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. De Bortoli M, et al. Eur J Hum Genet, 2010 Jul. PMID 20197793, Free PMC Article
    5. Reduced membranous and ectopic cytoplasmic expression of DSC2 in esophageal squamous cell carcinoma: an independent prognostic factor. Fang WK, et al. Hum Pathol, 2010 Oct. PMID 20621329

    See all (124) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer.
      Title: Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer.
    2. DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of gamma-catenin and PTEN/PI3K/AKT signaling pathway.
      Title: DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of Îł-catenin and PTEN/PI3K/AKT signaling pathway.
    3. Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
      Title: Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
    4. Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
      Title: Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
    5. Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
      Title: Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
    6. A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
      Title: A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
    7. Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
      Title: Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
    8. Mutation in the DSC2 gene is associated with nevus of Ota with choroidal melanoma.
      Title: Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese.
    9. Colocalization analysis using cell compartment trackers revealed that N-glycosylation- deficient DSC2 mutants were retained within the Golgi apparatus. In contrast, elimination of the four O-mannosylation sites or the disulfide bridges in the ECD has no obvious effect on the intracellular protein processing of DSC2.
      Title: Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites.
    10. Desmocollin-2 genetic variant contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
      Title: Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in DSC2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-04-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-04-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686I11137

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC
    Inferred by Curator
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cardiac muscle cell-cardiac muscle cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to starvation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ventricular cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in desmosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    desmocollin-2
    Names
    cadherin family member 2
    desmosomal glycoprotein II/III

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008208.2 RefSeqGene

      Range
      5001..41452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_400

    mRNA and Protein(s)

    1. NM_001406506.1 → NP_001393435.1  desmocollin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC012417, KF573685
      Consensus CDS
      CCDS92447.1
      UniProtKB/TrEMBL
      A0A3B3ISU0
      Related
      ENSP00000518963.1, ENST00000850650.1

    2. NM_001406507.1 → NP_001393436.1  desmocollin-2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012417, KF573685
      UniProtKB/TrEMBL
      A0AAQ5BGT5
      Related
      ENSP00000519012.1, ENST00000713709.1

    3. NM_004949.5 → NP_004940.1  desmocollin-2 isoform Dsc2b preproprotein

      See identical proteins and their annotated locations for NP_004940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Dsc2b, also known as DGIII) contains an additional exon at the 3' end compared to transcript variant Dsc2a. This results in a frame-shift and a shorter isoform (Dsc2b) with a distinct C-terminus compared to isoform Dsc2a.
      Source sequence(s)
      AC012417, BC063291, BE350090, DC382631, X56807
      Consensus CDS
      CCDS11893.1
      UniProtKB/TrEMBL
      A0AAQ5BGP1
      Related
      ENSP00000251081.6, ENST00000251081.8
      Conserved Domains (3) summary
      cd11304
      Location:247 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 463
      Cadherin; Cadherin domain

    4. NM_024422.6 → NP_077740.1  desmocollin-2 isoform Dsc2a preproprotein

      See identical proteins and their annotated locations for NP_077740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Dsc2a, also known as DGII) encodes the longer isoform (Dsc2a).
      Source sequence(s)
      AC012417, BC063291, BE350090, DC382631, X56807
      Consensus CDS
      CCDS11892.1
      UniProtKB/Swiss-Prot
      Q02487
      UniProtKB/TrEMBL
      A0AAQ5BGQ3, A8K2P8, A9X9K9, A9X9L0
      Related
      ENSP00000280904.6, ENST00000280904.11
      Conserved Domains (4) summary
      cd11304
      Location:247 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 463
      Cadherin; Cadherin domain
      pfam01049
      Location:852 → 896
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      31058840..31102421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31249110..31292671 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02487.1 GenPept UniProtKB/Swiss-Prot:Q02487

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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