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DSG2 desmoglein 2 [ Homo sapiens (human) ]

Gene ID: 1829, updated on 13-Jan-2015
Official Symbol
DSG2provided by HGNC
Official Full Name
desmoglein 2provided by HGNC
Primary source
HGNC:HGNC:3049
See related
Ensembl:ENSG00000046604; HPRD:00516; MIM:125671; Vega:OTTHUMG00000179649
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
HDGC; CDHF5; ARVC10; ARVD10; CMD1BB
Summary
Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. This gene product is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jul 2008]
Orthologs
See DSG2 in Epigenomics, MapViewer
Location:
18q12.1
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (31498064..31548851)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29078027..29128814)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 4 Neighboring gene desmoglein 3 Neighboring gene DSG2 antisense RNA 1 Neighboring gene transthyretin Neighboring gene UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 Neighboring gene leucine rich repeat containing 37, member A7, pseudogene

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 DSG2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed
  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemApoptotic cells show dramatic rearrangements of tight junctions, adherens junctions, and desmosomes (Abreu et al., 2000). Desmosome-specific members of the cadherin superfamily of cell adhesion mole...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • 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...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC117034, MGC117036, MGC117037

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction TAS
Traceable Author Statement
more info
PubMed 
desmosome IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
desmoglein-2
Names
desmoglein-2
HDGC
cadherin family member 5

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_007072.3 

    Range
    4823..55610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_397

mRNA and Protein(s)

  1. NM_001943.3NP_001934.2  desmoglein-2 preproprotein

    See proteins identical to NP_001934.2

    Status: REVIEWED

    Source sequence(s)
    BC014581, BC022413, BC099657, CN347023, CN395083, DC417739, DR158777
    Consensus CDS
    CCDS42423.1
    UniProtKB/Swiss-Prot
    Q14126
    Related
    ENSP00000261590, OTTHUMP00000262049, ENST00000261590, OTTHUMT00000447506
    Conserved Domains (2) summary
    cd11304
    Location:163268
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:785842
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    31498064..31548851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

    Range
    29005330..29056126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    25934972..25985760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)