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    DSC3 desmocollin 3 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001941.5NP_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:247351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:27111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360462
      Cadherin; Cadherin domain
      pfam01049
      Location:829891
      Cadherin_C; Cadherin cytoplasmic region
      cl09101
      Location:596669
      E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
    2. NM_024423.4NP_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:247351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:27111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360462
      Cadherin; Cadherin domain
      cl09101
      Location:596669
      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)