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    DSC2 desmocollin 2 [ Homo sapiens (human) ]

    Gene ID: 1824, updated on 13-May-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DSC2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31058840..31102421, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31249110..31292671, complement)
    105.20220307 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 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    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 2016-01-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2016-01-14)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
    PubMed 
    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 
    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
    PubMed 
    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

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

    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_008208.2 RefSeqGene

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

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC012417, KF573685
      Consensus CDS
      CCDS92447.1
      UniProtKB/TrEMBL
      A0A3B3ISU0
    2. NM_001406507.1NP_001393436.1  desmocollin-2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC012417, KF573685
    3. NM_004949.5NP_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/Swiss-Prot
      Q02487
      Related
      ENSP00000251081.6, ENST00000251081.8
      Conserved Domains (3) summary
      cd11304
      Location:247351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360463
      Cadherin; Cadherin domain
    4. NM_024422.6NP_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
      Related
      ENSP00000280904.6, ENST00000280904.11
      Conserved Domains (4) summary
      cd11304
      Location:247351
      Cadherin_repeat; Cadherin tandem repeat domain
      smart01055
      Location:31111
      Cadherin_pro; Cadherin prodomain like
      pfam00028
      Location:360463
      Cadherin; Cadherin domain
      pfam01049
      Location:852896
      Cadherin_C; Cadherin cytoplasmic region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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)