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PYDC2 (pyrin domain containing 2)

Identity

Alias (NCBI)POP2
cPOP2
HGNC (Hugo) PYDC2
HGNC Alias symbPOP2
LocusID (NCBI) 152138
Atlas_Id 54565
Location 3q28  [Link to chromosome band 3q28]
Location_base_pair Starts at 191461163 and ends at 191461456 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PYDC2 (3q28) / C3orf79 (3q25.2)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(3;3)(q25;q28) PYDC2/C3orf79

External links

Nomenclature
HGNC (Hugo)PYDC2   33512
Cards
Entrez_Gene (NCBI)PYDC2    pyrin domain containing 2
AliasesPOP2; cPOP2
GeneCards (Weizmann)PYDC2
Ensembl hg19 (Hinxton)ENSG00000253548 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000253548 [Gene_View]  ENSG00000253548 [Sequence]  chr3:191461163-191461456 [Contig_View]  PYDC2 [Vega]
ICGC DataPortalENSG00000253548
TCGA cBioPortalPYDC2
AceView (NCBI)PYDC2
Genatlas (Paris)PYDC2
SOURCE (Princeton)PYDC2
Genetics Home Reference (NIH)PYDC2
Genomic and cartography
GoldenPath hg38 (UCSC)PYDC2  -     chr3:191461163-191461456 +  3q28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYDC2  -     3q28   [Description]    (hg19-Feb_2009)
GoldenPathPYDC2 - 3q28 [CytoView hg19]  PYDC2 - 3q28 [CytoView hg38]
ImmunoBaseENSG00000253548
genome Data Viewer NCBIPYDC2 [Mapview hg19]  
OMIM615701   
Gene and transcription
Genbank (Entrez)AY858112
RefSeq transcript (Entrez)NM_001083308
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYDC2
Alternative Splicing GalleryENSG00000253548
Gene ExpressionPYDC2 [ NCBI-GEO ]   PYDC2 [ EBI - ARRAY_EXPRESS ]   PYDC2 [ SEEK ]   PYDC2 [ MEM ]
Gene Expression Viewer (FireBrowse)PYDC2 [ Firebrowse - Broad ]
GenevisibleExpression of PYDC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)152138
GTEX Portal (Tissue expression)PYDC2
Human Protein AtlasENSG00000253548-PYDC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ56P42   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ56P42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ56P42
Splice isoforms : SwissVarQ56P42
PhosPhoSitePlusQ56P42
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom_sf   
Domain families : Pfam (Sanger)PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam02758   
Domain families : Smart (EMBL)PYRIN (SM01289)  
Conserved Domain (NCBI)PYDC2
Blocks (Seattle)PYDC2
SuperfamilyQ56P42
Human Protein Atlas [tissue]ENSG00000253548-PYDC2 [tissue]
Peptide AtlasQ56P42
IPIIPI00084941   
Protein Interaction databases
DIP (DOE-UCLA)Q56P42
IntAct (EBI)Q56P42
BioGRIDPYDC2
STRING (EMBL)PYDC2
ZODIACPYDC2
Ontologies - Pathways
QuickGOQ56P42
Ontology : AmiGOprotein binding  nucleus  cytoplasm  inflammatory response  negative regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  innate immune response  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  negative regulation of NLRP3 inflammasome complex assembly  negative regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  inflammatory response  negative regulation of tumor necrosis factor-mediated signaling pathway  negative regulation of NF-kappaB transcription factor activity  innate immune response  negative regulation of interleukin-1 beta secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  negative regulation of NLRP3 inflammasome complex assembly  negative regulation of NIK/NF-kappaB signaling  
NDEx NetworkPYDC2
Atlas of Cancer Signalling NetworkPYDC2
Wikipedia pathwaysPYDC2
Orthology - Evolution
OrthoDB152138
GeneTree (enSembl)ENSG00000253548
Phylogenetic Trees/Animal Genes : TreeFamPYDC2
HOGENOMQ56P42
Homologs : HomoloGenePYDC2
Homology/Alignments : Family Browser (UCSC)PYDC2
Gene fusions - Rearrangements
Fusion : MitelmanPYDC2/C3orf79 [3q28/3q25.2]  
Fusion : QuiverPYDC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYDC2 [hg38]
dbVarPYDC2
ClinVarPYDC2
MonarchPYDC2
1000_GenomesPYDC2 
Exome Variant ServerPYDC2
GNOMAD BrowserENSG00000253548
Varsome BrowserPYDC2
Genomic Variants (DGV)PYDC2 [DGVbeta]
DECIPHERPYDC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYDC2 
Mutations
ICGC Data PortalPYDC2 
TCGA Data PortalPYDC2 
Broad Tumor PortalPYDC2
OASIS PortalPYDC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYDC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPYDC2
Mutations and Diseases : HGMDPYDC2
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 PYDC2
DgiDB (Drug Gene Interaction Database)PYDC2
DoCM (Curated mutations)PYDC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYDC2 (select a term)
intoGenPYDC2
Cancer3DPYDC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615701   
Orphanet
DisGeNETPYDC2
MedgenPYDC2
Genetic Testing Registry PYDC2
NextProtQ56P42 [Medical]
GENETestsPYDC2
Target ValidationPYDC2
Huge Navigator PYDC2 [HugePedia]
ClinGenPYDC2
Clinical trials, drugs, therapy
MyCancerGenomePYDC2
Protein Interactions : CTD
Pharm GKB GenePA162400524
PharosQ56P42
Clinical trialPYDC2
Miscellaneous
canSAR (ICR)PYDC2 (select the gene name)
HarmonizomePYDC2
DataMed IndexPYDC2
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPYDC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:33:47 CET 2021
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