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    DSC3 desmocollin 3 [ Homo sapiens (human) ]

    Gene ID: 1825, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DSC3provided by HGNC
    Official Full Name
    desmocollin 3provided by HGNC
    Primary source
    HGNC:HGNC:3037
    See related
    Ensembl:ENSG00000134762 MIM:600271; AllianceGenome:HGNC:3037
    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
    DSC; DSC1; DSC2; DSC4; CDHF3; HT-CP
    Summary
    The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in skin (RPKM 186.5) and esophagus (RPKM 47.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See DSC3 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (30989365..31042742, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31179590..31233008, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28569331..28622708, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372046 Neighboring gene uncharacterized LOC105372047 Neighboring gene MPRA-validated peak3090 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:28192518-28193108 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:28211486-28212210 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:28212211-28212933 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28343574-28344560 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28395882-28396383 Neighboring gene MPRA-validated peak3091 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:28565824-28566020 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28577152-28577726 Neighboring gene RNA, U6 small nuclear 857, pseudogene Neighboring gene uncharacterized LOC124904345 Neighboring gene uncharacterized LOC124904377 Neighboring gene desmocollin 2 Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene desmocollin 1

    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. Desmocollin 3 has a tumor suppressive activity through inhibition of AKT pathway in colorectal cancer. Cui T, et al. Exp Cell Res, 2019 May 15. PMID 30857973
    2. Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2. Koga H, et al. J Invest Dermatol, 2021 Sep. PMID 33766509
    3. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Ayub M, et al. Am J Hum Genet, 2009 Oct. PMID 19765682, Free PMC Article
    4. Autoimmunity to desmocollin 3 in pemphigus vulgaris. Mao X, et al. Am J Pathol, 2010 Dec. PMID 20952584, Free PMC Article
    5. Desmocollin-3: a new marker of squamous differentiation in undifferentiated large-cell carcinoma of the lung. Monica V, et al. Mod Pathol, 2009 May. PMID 19287461

    See all (106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulation of Anti-Desmocollin 3 Antibodies in Pemphigus Diseases: A Case-control Study.
      Title: Upregulation of Anti-Desmocollin 3 Antibodies in Pemphigus Diseases: A Case-control Study.
    2. Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
      Title: Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
    3. Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2.
      Title: Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2.
    4. DSC3 suppresses colorectal cancer cell growth through inhibition of AKT pathway and regulation of E-cadherin
      Title: Desmocollin 3 has a tumor suppressive activity through inhibition of AKT pathway in colorectal cancer.
    5. The Findings of this study imply early alteration of the substantia nigra in XDP mutation carriers prone to develop parkinsonism.
      Title: Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.
    6. Data show that fetal pMSCs (mesenchymal stromal cells) expressing the highest levels of desmoglein 2, desmocollin 3 and plakophilin 2, followed by maternal pMSCs, while bmMSCs expressed the lowest levels.
      Title: Expression of Desmoglein 2, Desmocollin 3 and Plakophilin 2 in Placenta and Bone Marrow-Derived Mesenchymal Stromal Cells.
    7. Napsin-A, and Desmocollin-3 were sensitive and specific markers for the diagnosis of AC and SCC, respectively. Both markers allowed classification of 54/60 cases into either AC or SCC.
      Title: The role of Napsin-A and Desmocollin-3 in classifying poorly differentiating non-small cell lung carcinoma.
    8. Suggest that Dsc3 can mediate FSH-induced ovarian cancer cell proliferation by activating the EGFR/Akt signaling pathway.
      Title: Desmocollin 3 mediates follicle stimulating hormone-induced ovarian epithelial cancer cell proliferation by activating the EGFR/Akt signaling pathway.
    9. data suggests that DNA methylation contributes to down-regulation of DSC3 in prostate cancer, and loss of DSC3 predicts poor clinical outcome.
      Title: Association of DSC3 mRNA down-regulation in prostate cancer with promoter hypermethylation and poor prognosis.
    10. Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases.
      Title: The influence of desmocollin 1-3 expression on prognosis after curative resection of colorectal liver metastases.
    Submit: New GeneRIF Correction See all GeneRIFs (26)

    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

    Associated conditions

    Description Tests
    Hereditary hypotrichosis with recurrent skin vesicles
    MedGen: C2751292 OMIM: 613102 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    EBI GWAS Catalog
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with desmocollin 3 (DSC3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gamma-catenin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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 homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cell-cell junction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    desmocollin-3
    Names
    cadherin family member 3
    desmocollin-4

    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_016782.2 RefSeqGene

      Range
      5000..58377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001941.5 → NP_001932.2  desmocollin-3 isoform Dsc3a preproprotein

      See identical proteins and their annotated locations for NP_001932.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Dsc3a) represents the shorter transcript but encodes the longer isoform (Dsc3a).
      Source sequence(s)
      AC025212, AI123917, D17427, DA860471
      Consensus CDS
      CCDS32810.1
      UniProtKB/Swiss-Prot
      A6NN35, Q14200, Q14574, Q9HAZ9
      UniProtKB/TrEMBL
      A8K6T3
      Related
      ENSP00000353608.4, ENST00000360428.9
      Conserved Domains (5) summary
      cd11304
      Location:247 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:27 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 462
      Cadherin; Cadherin domain
      pfam01049
      Location:829 → 891
      Cadherin_C; Cadherin cytoplasmic region
      cl09101
      Location:596 → 669
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    2. NM_024423.4 → NP_077741.2  desmocollin-3 isoform Dsc3b preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (Dsc3b) includes an additional exon in the 3' region and it thus differs in its 3' coding region and 3' UTR, compared to variant Dsc3a. The encoded isoform (Dsc3b) has a distinct C-terminus and is shorter than isoform Dsc3a. There are no publicly available full-length transcripts representing this variant, but it is supported by mRNA annotation on DNA accession AF293359.1, and by data in PMIDs 7929347 and 11027496.
      Source sequence(s)
      AC025212, AI123917, BG214334, BG697535, D17427, DA860471
      UniProtKB/TrEMBL
      A8K6T3
      Related
      ENSP00000392068.1, ENST00000434452.5
      Conserved Domains (4) summary
      cd11304
      Location:247 → 351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:27 → 111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360 → 462
      Cadherin; Cadherin domain
      cl09101
      Location:596 → 669
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

    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
      30989365..31042742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31179590..31233008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14574.3 GenPept UniProtKB/Swiss-Prot:Q14574

    Gene LinkOut

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

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