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DSC2 desmocollin 2 [ Homo sapiens (human) ]

Gene ID: 1824, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See DSC2 in Genome Data Viewer
Location:
18q12.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31058840..31102421, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31249110..31292671, complement)
RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr18:28565824-28566020 Neighboring gene RNA, U6 small nuclear 857, pseudogene 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 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:28786090-28787289 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28805437-28806008 Neighboring gene uncharacterized LOC105372049

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. A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. Brodehl A, et al. J Mol Cell Cardiol, 2020 Apr. PMID 32201174
  2. Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. Beffagna G, et al. BMC Med Genet, 2007 Oct 26. PMID 17963498, Free PMC Article
  3. Repression of the desmocollin 2 gene expression in human colon cancer cells is relieved by the homeodomain transcription factors Cdx1 and Cdx2. Funakoshi S, et al. Mol Cancer Res, 2008 Sep. PMID 18819935
  4. The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. De Bortoli M, et al. Eur J Hum Genet, 2010 Jul. PMID 20197793, Free PMC Article
  5. Reduced membranous and ectopic cytoplasmic expression of DSC2 in esophageal squamous cell carcinoma: an independent prognostic factor. Fang WK, et al. Hum Pathol, 2010 Oct. PMID 20621329

See all (124) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer.
    Title: Desmoglein 2 and desmocollin 2 depletions promote malignancy through distinct mechanisms in triple-negative and luminal breast cancer.
  2. DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of gamma-catenin and PTEN/PI3K/AKT signaling pathway.
    Title: DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of γ-catenin and PTEN/PI3K/AKT signaling pathway.
  3. Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
    Title: Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
  4. Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
    Title: Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
  5. Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
    Title: Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
  6. A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
    Title: A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
  7. Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
    Title: Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
  8. Mutation in the DSC2 gene is associated with nevus of Ota with choroidal melanoma.
    Title: Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese.
  9. Colocalization analysis using cell compartment trackers revealed that N-glycosylation- deficient DSC2 mutants were retained within the Golgi apparatus. In contrast, elimination of the four O-mannosylation sites or the disulfide bridges in the ECD has no obvious effect on the intracellular protein processing of DSC2.
    Title: Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites.
  10. Desmocollin-2 genetic variant contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
    Title: Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy.
Submit: New GeneRIF Correction See all GeneRIFs (45)

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

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 2024-04-24)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2024-04-24)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

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

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
  
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 
Process Evidence Code Pubs
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cardiac muscle cell-cardiac muscle cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 cellular response to starvation IEA
Inferred from Electronic Annotation
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
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
  
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

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

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_008208.2 RefSeqGene

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

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC012417, KF573685
    Consensus CDS
    CCDS92447.1
    UniProtKB/TrEMBL
    A0A3B3ISU0
    Related
    ENSP00000518963.1, ENST00000850650.1

  2. NM_001406507.1 → NP_001393436.1  desmocollin-2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC012417, KF573685
    UniProtKB/TrEMBL
    A0AAQ5BGT5
    Related
    ENSP00000519012.1, ENST00000713709.1

  3. NM_004949.5 → NP_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/TrEMBL
    A0AAQ5BGP1
    Related
    ENSP00000251081.6, ENST00000251081.8
    Conserved Domains (3) summary
    cd11304
    Location:247 → 351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:31 → 111
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:360 → 463
    Cadherin; Cadherin domain

  4. NM_024422.6 → NP_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
    UniProtKB/TrEMBL
    A0AAQ5BGQ3, A8K2P8, A9X9K9, A9X9L0
    Related
    ENSP00000280904.6, ENST00000280904.11
    Conserved Domains (4) summary
    cd11304
    Location:247 → 351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:31 → 111
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:360 → 463
    Cadherin; Cadherin domain
    pfam01049
    Location:852 → 896
    Cadherin_C; Cadherin cytoplasmic region

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
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02487.1 GenPept UniProtKB/Swiss-Prot:Q02487

Gene LinkOut

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

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