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PTCD2 (pentatricopeptide repeat domain 2)

Identity

Alias_symbol (synonym)FLJ12598
Other alias-
HGNC (Hugo) PTCD2
LocusID (NCBI) 79810
Atlas_Id 72367
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 71616194 and ends at 71655180 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  79810  pentatricopeptide repeat domain 2
Aliases
GeneCards (Weizmann)PTCD2
Ensembl hg19 (Hinxton)ENSG00000049883 [Gene_View]  chr5:71616194-71655180 [Contig_View]  PTCD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000049883 [Gene_View]  chr5:71616194-71655180 [Contig_View]  PTCD2 [Vega]
ICGC DataPortalENSG00000049883
TCGA cBioPortalPTCD2
AceView (NCBI)PTCD2
Genatlas (Paris)PTCD2
WikiGenes79810
SOURCE (Princeton)PTCD2
Genetics Home Reference (NIH)PTCD2
Genomic and cartography
GoldenPath hg19 (UCSC)PTCD2  -     chr5:71616194-71655180 +  5q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTCD2  -     5q13.2   [Description]    (hg38-Dec_2013)
EnsemblPTCD2 - 5q13.2 [CytoView hg19]  PTCD2 - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBIPTCD2 [Mapview hg19]  PTCD2 [Mapview hg38]
OMIM615484   
Gene and transcription
Genbank (Entrez)AI798903 AK022660 AK056761 AK298750 AK303639
RefSeq transcript (Entrez)NM_001284403 NM_001284404 NM_001284405 NM_024754
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929322
Consensus coding sequences : CCDS (NCBI)PTCD2
Cluster EST : UnigeneHs.126906 [ NCBI ]
CGAP (NCI)Hs.126906
Alternative Splicing GalleryENSG00000049883
Gene ExpressionPTCD2 [ NCBI-GEO ]   PTCD2 [ EBI - ARRAY_EXPRESS ]   PTCD2 [ SEEK ]   PTCD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79810
GTEX Portal (Tissue expression)PTCD2
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
Splice isoforms : SwissVarQ8WV60
PhosPhoSitePlusQ8WV60
Domaine pattern : Prosite (Expaxy)PPR (PS51375)   
Domains : Interpro (EBI)Pentatricopeptide_repeat    Ribosomal_S27_mit   
Domain families : Pfam (Sanger)MRP-S27 (PF10037)   
Domain families : Pfam (NCBI)pfam10037   
Conserved Domain (NCBI)PTCD2
DMDM Disease mutations79810
Blocks (Seattle)PTCD2
SuperfamilyQ8WV60
Human Protein AtlasENSG00000049883
Peptide AtlasQ8WV60
HPRD15193
IPIIPI00853162   IPI00921811   IPI01014930   IPI00967941   IPI00967156   IPI00966496   IPI00968214   IPI00974375   
Protein Interaction databases
DIP (DOE-UCLA)Q8WV60
IntAct (EBI)Q8WV60
FunCoupENSG00000049883
BioGRIDPTCD2
STRING (EMBL)PTCD2
ZODIACPTCD2
Ontologies - Pathways
QuickGOQ8WV60
Ontology : AmiGOkidney development  liver development  mitochondrion  mRNA processing  mitochondrion organization  poly(A) RNA binding  muscle fiber development  regulation of mRNA processing  ventricular cardiac muscle tissue morphogenesis  
Ontology : EGO-EBIkidney development  liver development  mitochondrion  mRNA processing  mitochondrion organization  poly(A) RNA binding  muscle fiber development  regulation of mRNA processing  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
HOVERGENQ8WV60
HOGENOMQ8WV60
Homologs : HomoloGenePTCD2
Homology/Alignments : Family Browser (UCSC)PTCD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCD2
dbVarPTCD2
ClinVarPTCD2
1000_GenomesPTCD2 
Exome Variant ServerPTCD2
ExAC (Exome Aggregation Consortium)PTCD2 (select the gene name)
Genetic variants : HAPMAP79810
Genomic Variants (DGV)PTCD2 [DGVbeta]
DECIPHER (Syndromes)5:71616194-71655180  ENSG00000049883
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]  
Mutations and Diseases : HGMDPTCD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PTCD2
DgiDB (Drug Gene Interaction Database)PTCD2
DoCM (Curated mutations)PTCD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTCD2 (select a term)
intoGenPTCD2
Cancer3DPTCD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615484   
Orphanet
MedgenPTCD2
Genetic Testing Registry PTCD2
NextProtQ8WV60 [Medical]
TSGene79810
GENETestsPTCD2
Huge Navigator PTCD2 [HugePedia]
snp3D : Map Gene to Disease79810
BioCentury BCIQPTCD2
ClinGenPTCD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79810
Chemical/Pharm GKB GenePA134909110
Clinical trialPTCD2
Miscellaneous
canSAR (ICR)PTCD2 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTCD2
EVEXPTCD2
GoPubMedPTCD2
iHOPPTCD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:40:08 CET 2017

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