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DSC2 desmocollin 2 [ Homo sapiens (human) ]

Gene ID: 1824, updated on 3-Jun-2018
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
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

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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

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

    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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