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DSC2 desmocollin 2 [ Homo sapiens (human) ]

Gene ID: 1824, updated on 1-Jun-2020

Summary

Official Symbol
DSC2provided by HGNC
Official Full Name
desmocollin 2provided by HGNC
Primary source
HGNC:HGNC:3036
See related
Ensembl:ENSG00000134755 MIM:125645
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (31058840..31102421, 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 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

NHGRI GWAS Catalog

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

Pathways from PubChem

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
Process Evidence Code Pubs
bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle cell-cardiac muscle cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to starvation IEA
Inferred from Electronic Annotation
more info
 
cornification TAS
Traceable Author Statement
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
keratinization TAS
Traceable Author Statement
more info
 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
adherens junction IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornified envelope TAS
Traceable Author Statement
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
desmosome IBA
Inferred from Biological aspect of Ancestor
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
    5001..41452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_400

mRNA and Protein(s)

  1. 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
  2. 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    31058840..31102421 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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