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DSG2 desmoglein 2 [ Homo sapiens (human) ]

Gene ID: 1829, updated on 22-Sep-2022

Summary

Official Symbol
DSG2provided by HGNC
Official Full Name
desmoglein 2provided by HGNC
Primary source
HGNC:HGNC:3049
See related
Ensembl:ENSG00000046604 MIM:125671; AllianceGenome:HGNC:3049
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
Summary
This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]
Expression
Broad expression in colon (RPKM 71.0), small intestine (RPKM 46.2) and 18 other tissues See more
Orthologs
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Genomic context

See DSG2 in Genome Data Viewer
Location:
18q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31498177..31549008)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31688704..31739535)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29078140..29128971)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 3 Neighboring gene VISTA enhancer hs2166 Neighboring gene DSG2 antisense RNA 1 Neighboring gene uncharacterized LOC124904277 Neighboring gene transthyretin Neighboring gene beta-1,4-galactosyltransferase 6 Neighboring gene U6 spliceosomal RNA

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 DSG2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2015-11-16)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2015-11-16)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated desmoglein 2 (DSG2) protein is incorporated into HIV-1 Gag virus-like particles PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117034, MGC117036, MGC117037

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cell adhesion molecule binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cell surface HDA PubMed 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cornified envelope TAS
Traceable Author Statement
more info
 
is_active_in desmosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in desmosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
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

Preferred Names
desmoglein-2
Names
cadherin family member 5

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_007072.3 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001943.5NP_001934.2  desmoglein-2 preproprotein

    See identical proteins and their annotated locations for NP_001934.2

    Status: REVIEWED

    Source sequence(s)
    BC014581, BC022413, BC099657, BQ023247, CN395083, DC417739, DR158777, HY268349
    Consensus CDS
    CCDS42423.1
    UniProtKB/Swiss-Prot
    Q14126, Q4KKU6
    Related
    ENSP00000261590.8, ENST00000261590.13
    Conserved Domains (1) summary
    cd11304
    Location:163268
    Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    31498177..31549008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437315.1XP_047293271.1  desmoglein-2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    31688704..31739535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)