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PTCD2 (pentatricopeptide repeat domain 2)

Identity

Alias (NCBI)-
HGNC (Hugo) PTCD2
HGNC Alias symbFLJ12598
LocusID (NCBI) 79810
Atlas_Id 72367
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 72320373 and ends at 72368395 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)
ABLIM1 (10q25.3)::PTCD2 (5q13.2)

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

 



External links

 

Nomenclature
HGNC (Hugo)PTCD2   25734
Cards
Entrez_Gene (NCBI)PTCD2    pentatricopeptide repeat domain 2
Aliases
GeneCards (Weizmann)PTCD2
Ensembl hg19 (Hinxton)ENSG00000049883 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000049883 [Gene_View]  ENSG00000049883 [Sequence]  chr5:72320373-72368395 [Contig_View]  PTCD2 [Vega]
ICGC DataPortalENSG00000049883
TCGA cBioPortalPTCD2
AceView (NCBI)PTCD2
Genatlas (Paris)PTCD2
SOURCE (Princeton)PTCD2
Genetics Home Reference (NIH)PTCD2
Genomic and cartography
GoldenPath hg38 (UCSC)PTCD2  -     chr5:72320373-72368395 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTCD2  -     5q13.2   [Description]    (hg19-Feb_2009)
GoldenPathPTCD2 - 5q13.2 [CytoView hg19]  PTCD2 - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000049883
Genome Data Viewer NCBIPTCD2 [Mapview hg19]  
OMIM615484   
Gene and transcription
Genbank (Entrez)AI798903 AK022660 AK056761 AK298750 AK303639
RefSeq transcript (Entrez)NM_001284403 NM_001284404 NM_001284405 NM_024754
Consensus coding sequences : CCDS (NCBI)PTCD2
Gene ExpressionPTCD2 [ NCBI-GEO ]   PTCD2 [ EBI - ARRAY_EXPRESS ]   PTCD2 [ SEEK ]   PTCD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCD2 [ Firebrowse - Broad ]
GenevisibleExpression of PTCD2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79810
GTEX Portal (Tissue expression)PTCD2
Human Protein AtlasENSG00000049883-PTCD2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WV60   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WV60  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WV60
PhosPhoSitePlusQ8WV60
Domaine pattern : Prosite (Expaxy)PPR (PS51375)   
Domains : Interpro (EBI)MRPS27/PTCD2    Pentatricopeptide_repeat    PTCD2    TPR-like_helical_dom_sf   
Domain families : Pfam (Sanger)MRP-S27 (PF10037)   
Domain families : Pfam (NCBI)pfam10037   
Conserved Domain (NCBI)PTCD2
SuperfamilyQ8WV60
AlphaFold pdb e-kbQ8WV60   
Human Protein Atlas [tissue]ENSG00000049883-PTCD2 [tissue]
HPRD15193
Protein Interaction databases
DIP (DOE-UCLA)Q8WV60
IntAct (EBI)Q8WV60
BioGRIDPTCD2
STRING (EMBL)PTCD2
ZODIACPTCD2
Ontologies - Pathways
QuickGOQ8WV60
Ontology : AmiGOkidney development  liver development  RNA binding  protein binding  mitochondrion  mitochondrion  mRNA processing  mitochondrion organization  multicellular organism development  regulation of gene expression  regulation of mRNA processing  regulation of mRNA processing  muscle cell development  ventricular cardiac muscle tissue morphogenesis  
Ontology : EGO-EBIkidney development  liver development  RNA binding  protein binding  mitochondrion  mitochondrion  mRNA processing  mitochondrion organization  multicellular organism development  regulation of gene expression  regulation of mRNA processing  regulation of mRNA processing  muscle cell development  ventricular cardiac muscle tissue morphogenesis  
NDEx NetworkPTCD2
Atlas of Cancer Signalling NetworkPTCD2
Wikipedia pathwaysPTCD2
Orthology - Evolution
OrthoDB79810
GeneTree (enSembl)ENSG00000049883
Phylogenetic Trees/Animal Genes : TreeFamPTCD2
Homologs : HomoloGenePTCD2
Homology/Alignments : Family Browser (UCSC)PTCD2
Gene fusions - Rearrangements
Fusion : QuiverPTCD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCD2
dbVarPTCD2
ClinVarPTCD2
MonarchPTCD2
1000_GenomesPTCD2 
Exome Variant ServerPTCD2
GNOMAD BrowserENSG00000049883
Varsome BrowserPTCD2
ACMGPTCD2 variants
VarityQ8WV60
Genomic Variants (DGV)PTCD2 [DGVbeta]
DECIPHERPTCD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTCD2 
Mutations
ICGC Data PortalPTCD2 
TCGA Data PortalPTCD2 
Broad Tumor PortalPTCD2
OASIS PortalPTCD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCD2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPTCD2
Mutations and Diseases : HGMDPTCD2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPTCD2
DgiDB (Drug Gene Interaction Database)PTCD2
DoCM (Curated mutations)PTCD2
CIViC (Clinical Interpretations of Variants in Cancer)PTCD2
Cancer3DPTCD2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615484   
Orphanet
DisGeNETPTCD2
MedgenPTCD2
Genetic Testing Registry PTCD2
NextProtQ8WV60 [Medical]
GENETestsPTCD2
Target ValidationPTCD2
Huge Navigator PTCD2 [HugePedia]
ClinGenPTCD2
Clinical trials, drugs, therapy
MyCancerGenomePTCD2
Protein Interactions : CTDPTCD2
Pharm GKB GenePA134909110
PharosQ8WV60
Clinical trialPTCD2
Miscellaneous
canSAR (ICR)PTCD2
HarmonizomePTCD2
ARCHS4PTCD2
DataMed IndexPTCD2
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPTCD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sun Jan 16 19:21:01 CET 2022

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