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    DSC2 desmocollin 2 [ Homo sapiens (human) ]

    Gene ID: 1824, updated on 8-Oct-2018

    Summary

    Official Symbol
    DSC2provided by HGNC
    Official Full Name
    desmocollin 2provided by HGNC
    Primary source
    HGNC:HGNC:3036
    See related
    Ensembl:ENSG00000134755 MIM:125645; Vega:OTTHUMG00000131981
    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

    Genomic context

    See DSC2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (31065974..31102432, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28645938..28682388, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 857, pseudogene Neighboring gene desmocollin 3 Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene desmocollin 1 Neighboring gene uncharacterized LOC105372049

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
      Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
    • Keratinization, organism-specific biosystem (from REACTOME)
      Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686I11137

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication IC
    Inferred by Curator
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cell-cell adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    cornified envelope TAS
    Traceable Author Statement
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    desmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

    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
      4994..41452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_400

    mRNA and Protein(s)

    1. NM_004949.4NP_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)
      BC063291, BE350090, DC382631, X56807
      Consensus CDS
      CCDS11893.1
      UniProtKB/Swiss-Prot
      Q02487
      Related
      ENSP00000251081.6, OTTHUMP00000162823, ENST00000251081.6, OTTHUMT00000254944
      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
    2. NM_024422.4NP_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)
      BC063291, BE350090, DC382631, X56807
      Consensus CDS
      CCDS11892.1
      UniProtKB/Swiss-Prot
      Q02487
      Related
      ENSP00000280904.6, OTTHUMP00000162822, ENST00000280904.10, OTTHUMT00000254943
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

      Range
      31065974..31102432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258206.4XP_005258263.1  desmocollin-2 isoform X1

      Related
      ENSP00000497441.1, ENST00000648081.1
      Conserved Domains (3) summary
      cd11304
      Location:104208
      Cadherin_repeat; Cadherin tandem repeat domain
      pfam00028
      Location:217320
      Cadherin; Cadherin domain
      pfam01049
      Location:709753
      Cadherin_C; Cadherin cytoplasmic region
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