DSG2 desmoglein 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 18q12.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (31498177..31549008)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (31688704..31739535)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (29078140..29128971)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hyperactivation of ATF4/TGF-beta1 signaling contributes to the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy caused by DSG2 Variant.
Title: Hyperactivation of ATF4/TGF-β1 signaling contributes to the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy caused by DSG2 Variant.
Desmoglein-2 Affects Vascular Function in Moyamoya Disease by Interacting with MMP-9 and Influencing PI3K Signaling.
Title: Desmoglein-2 Affects Vascular Function in Moyamoya Disease by Interacting with MMP-9 and Influencing PI3K Signaling.
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.
The role of desmoglein-2 in kidney disease.
Title: The role of desmoglein-2 in kidney disease.
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.
Title: Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.
Serine/threonine-protein kinase D2-mediated phosphorylation of DSG2 threonine 730 promotes esophageal squamous cell carcinoma progression.
Title: Serine/threonine-protein kinase D2-mediated phosphorylation of DSG2 threonine 730 promotes esophageal squamous cell carcinoma progression.
Toward the understanding of DSG2 and CD46 interaction with HAdV-11 fiber, a super-complex analysis.
Title: Toward the understanding of DSG2 and CD46 interaction with HAdV-11 fiber, a super-complex analysis.
Desmoglein-2 and COVID-19 complications: insights into its role as a biomarker, pathogenesis and clinical implications.
Title: Desmoglein-2 and COVID-19 complications: insights into its role as a biomarker, pathogenesis and clinical implications.
Desmoglein 2 Functions as a Receptor for Fatty Acid Binding Protein 4 in Breast Cancer Epithelial Cells.
Title: Desmoglein 2 Functions as a Receptor for Fatty Acid Binding Protein 4 in Breast Cancer Epithelial Cells.
Downregulation of desmoglein 2 promotes EMT progression in gallbladder cancer.
Title: Downregulation of desmoglein 2 promotes EMT progression in gallbladder cancer.

Submit: New GeneRIF Correction See all GeneRIFs (105)

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 DSG2 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Arrhythmogenic right ventricular cardiomyopathy MedGen: C0349788 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	Compare labs
Arrhythmogenic right ventricular dysplasia 10 MedGen: C1857777 OMIM: 610193 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview	Compare labs
Dilated cardiomyopathy 1BB MedGen: C2752072 OMIM: 612877 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2022-12-13) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2022-12-13) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G29763 (e-PCR)
- UniSTS:68868

NoName (e-PCR)
- UniSTS:148229

D8S2279 (e-PCR)
- UniSTS:473907

G10645 (e-PCR)
- UniSTS:16256

D11S3114 (e-PCR)
- UniSTS:152207

D18S1242 (e-PCR)
- UniSTS:61105

RH102141 (e-PCR)
- UniSTS:96475

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
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

Process	Evidence Code	Pubs
involved_in Purkinje myocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in desmosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
involved_in maternal process involved in female pregnancy	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
involved_in response to progesterone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cell surface	HDA more info	PubMed
located_in cell-cell junction	TAS Traceable Author Statement 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
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	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 lateral plasma membrane	IEA Inferred from Electronic Annotation 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

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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.