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DSG3 (desmoglein 3)

Identity

Alias_namesdesmoglein 3 (pemphigus vulgaris antigen)
Alias_symbol (synonym)CDHF6
Other aliasPVA
HGNC (Hugo) DSG3
LocusID (NCBI) 1830
Atlas_Id 47658
Location 18q12.1  [Link to chromosome band 18q12]
Location_base_pair Starts at 31447769 and ends at 31478702 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DSG3 (18q12.1) / TNRC6B (22q13.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DSG3   3050
Cards
Entrez_Gene (NCBI)DSG3  1830  desmoglein 3
AliasesCDHF6; PVA
GeneCards (Weizmann)DSG3
Ensembl hg19 (Hinxton)ENSG00000134757 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134757 [Gene_View]  chr18:31447769-31478702 [Contig_View]  DSG3 [Vega]
ICGC DataPortalENSG00000134757
TCGA cBioPortalDSG3
AceView (NCBI)DSG3
Genatlas (Paris)DSG3
WikiGenes1830
SOURCE (Princeton)DSG3
Genetics Home Reference (NIH)DSG3
Genomic and cartography
GoldenPath hg38 (UCSC)DSG3  -     chr18:31447769-31478702 +  18q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSG3  -     18q12.1   [Description]    (hg19-Feb_2009)
EnsemblDSG3 - 18q12.1 [CytoView hg19]  DSG3 - 18q12.1 [CytoView hg38]
Mapping of homologs : NCBIDSG3 [Mapview hg19]  DSG3 [Mapview hg38]
OMIM169615   
Gene and transcription
Genbank (Entrez)AI608626 AK290367 BC063544 BC105997 BX110234
RefSeq transcript (Entrez)NM_001944
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSG3
Cluster EST : UnigeneHs.1925 [ NCBI ]
CGAP (NCI)Hs.1925
Alternative Splicing GalleryENSG00000134757
Gene ExpressionDSG3 [ NCBI-GEO ]   DSG3 [ EBI - ARRAY_EXPRESS ]   DSG3 [ SEEK ]   DSG3 [ MEM ]
Gene Expression Viewer (FireBrowse)DSG3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1830
GTEX Portal (Tissue expression)DSG3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32926   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32926  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32926
Splice isoforms : SwissVarP32926
PhosPhoSitePlusP32926
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    Catenin_binding_dom    Desmoglein    Desmosomal_cadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)   
Domain families : Pfam (NCBI)pfam00028   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)DSG3
DMDM Disease mutations1830
Blocks (Seattle)DSG3
PDB (SRS)5EQX   
PDB (PDBSum)5EQX   
PDB (IMB)5EQX   
PDB (RSDB)5EQX   
Structural Biology KnowledgeBase5EQX   
SCOP (Structural Classification of Proteins)5EQX   
CATH (Classification of proteins structures)5EQX   
SuperfamilyP32926
Human Protein AtlasENSG00000134757
Peptide AtlasP32926
HPRD01355
IPIIPI00031547   
Protein Interaction databases
DIP (DOE-UCLA)P32926
IntAct (EBI)P32926
FunCoupENSG00000134757
BioGRIDDSG3
STRING (EMBL)DSG3
ZODIACDSG3
Ontologies - Pathways
QuickGOP32926
Ontology : AmiGOcornified envelope  calcium ion binding  cytosol  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  integral component of membrane  desmosome  keratinization  extracellular exosome  cornification  
Ontology : EGO-EBIcornified envelope  calcium ion binding  cytosol  plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  integral component of membrane  desmosome  keratinization  extracellular exosome  cornification  
NDEx NetworkDSG3
Atlas of Cancer Signalling NetworkDSG3
Wikipedia pathwaysDSG3
Orthology - Evolution
OrthoDB1830
GeneTree (enSembl)ENSG00000134757
Phylogenetic Trees/Animal Genes : TreeFamDSG3
HOVERGENP32926
HOGENOMP32926
Homologs : HomoloGeneDSG3
Homology/Alignments : Family Browser (UCSC)DSG3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSG3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSG3
dbVarDSG3
ClinVarDSG3
1000_GenomesDSG3 
Exome Variant ServerDSG3
ExAC (Exome Aggregation Consortium)DSG3 (select the gene name)
Genetic variants : HAPMAP1830
Genomic Variants (DGV)DSG3 [DGVbeta]
DECIPHERDSG3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSG3 
Mutations
ICGC Data PortalDSG3 
TCGA Data PortalDSG3 
Broad Tumor PortalDSG3
OASIS PortalDSG3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSG3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDSG3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DSG3
DgiDB (Drug Gene Interaction Database)DSG3
DoCM (Curated mutations)DSG3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSG3 (select a term)
intoGenDSG3
Cancer3DDSG3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM169615   
Orphanet
MedgenDSG3
Genetic Testing Registry DSG3
NextProtP32926 [Medical]
TSGene1830
GENETestsDSG3
Target ValidationDSG3
Huge Navigator DSG3 [HugePedia]
snp3D : Map Gene to Disease1830
BioCentury BCIQDSG3
ClinGenDSG3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1830
Chemical/Pharm GKB GenePA27503
Clinical trialDSG3
Miscellaneous
canSAR (ICR)DSG3 (select the gene name)
Probes
Litterature
PubMed99 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSG3
EVEXDSG3
GoPubMedDSG3
iHOPDSG3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:06:04 CEST 2017

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