Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PTCD3 (pentatricopeptide repeat domain 3)

Identity

Alias_symbol (synonym)FLJ20758
DKFZp666K071
Other aliasMRP-S39
HGNC (Hugo) PTCD3
LocusID (NCBI) 55037
Atlas_Id 50990
Location 2p11.2  [Link to chromosome band 2p11]
Location_base_pair Starts at 86106182 and ends at 86142157 bp from pter ( according to hg38-Dec_2013)

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)PTCD3   24717
Cards
Entrez_Gene (NCBI)PTCD3  55037  pentatricopeptide repeat domain 3
AliasesMRP-S39
GeneCards (Weizmann)PTCD3
Ensembl hg19 (Hinxton)ENSG00000132300 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132300 [Gene_View]  chr2:86106182-86142157 [Contig_View]  PTCD3 [Vega]
ICGC DataPortalENSG00000132300
TCGA cBioPortalPTCD3
AceView (NCBI)PTCD3
Genatlas (Paris)PTCD3
WikiGenes55037
SOURCE (Princeton)PTCD3
Genetics Home Reference (NIH)PTCD3
Genomic and cartography
GoldenPath hg38 (UCSC)PTCD3  -     chr2:86106182-86142157 +  2p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTCD3  -     2p11.2   [Description]    (hg19-Feb_2009)
EnsemblPTCD3 - 2p11.2 [CytoView hg19]  PTCD3 - 2p11.2 [CytoView hg38]
Mapping of homologs : NCBIPTCD3 [Mapview hg19]  PTCD3 [Mapview hg38]
OMIM614918   
Gene and transcription
Genbank (Entrez)AK000765 AK293962 AK315676 AL832520 AW004698
RefSeq transcript (Entrez)NM_017952
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTCD3
Cluster EST : UnigeneHs.623885 [ NCBI ]
CGAP (NCI)Hs.623885
Alternative Splicing GalleryENSG00000132300
Gene ExpressionPTCD3 [ NCBI-GEO ]   PTCD3 [ EBI - ARRAY_EXPRESS ]   PTCD3 [ SEEK ]   PTCD3 [ MEM ]
Gene Expression Viewer (FireBrowse)PTCD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55037
GTEX Portal (Tissue expression)PTCD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EY7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EY7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EY7
Splice isoforms : SwissVarQ96EY7
PhosPhoSitePlusQ96EY7
Domaine pattern : Prosite (Expaxy)PPR (PS51375)   
Domains : Interpro (EBI)Pentatricopeptide_repeat   
Domain families : Pfam (Sanger)PPR_2 (PF13041)    PPR_3 (PF13812)   
Domain families : Pfam (NCBI)pfam13041    pfam13812   
Conserved Domain (NCBI)PTCD3
DMDM Disease mutations55037
Blocks (Seattle)PTCD3
PDB (SRS)3J9M   
PDB (PDBSum)3J9M   
PDB (IMB)3J9M   
PDB (RSDB)3J9M   
Structural Biology KnowledgeBase3J9M   
SCOP (Structural Classification of Proteins)3J9M   
CATH (Classification of proteins structures)3J9M   
SuperfamilyQ96EY7
Human Protein AtlasENSG00000132300
Peptide AtlasQ96EY7
HPRD08631
IPIIPI00783302   IPI00867557   IPI00908450   IPI00915945   IPI00917395   
Protein Interaction databases
DIP (DOE-UCLA)Q96EY7
IntAct (EBI)Q96EY7
FunCoupENSG00000132300
BioGRIDPTCD3
STRING (EMBL)PTCD3
ZODIACPTCD3
Ontologies - Pathways
QuickGOQ96EY7
Ontology : AmiGORNA binding  protein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  cytosol  ribosome  plasma membrane  regulation of translation  rRNA binding  mitochondrial translation  ribosomal small subunit binding  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIRNA binding  protein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  cytosol  ribosome  plasma membrane  regulation of translation  rRNA binding  mitochondrial translation  ribosomal small subunit binding  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkPTCD3
Atlas of Cancer Signalling NetworkPTCD3
Wikipedia pathwaysPTCD3
Orthology - Evolution
OrthoDB55037
GeneTree (enSembl)ENSG00000132300
Phylogenetic Trees/Animal Genes : TreeFamPTCD3
HOVERGENQ96EY7
HOGENOMQ96EY7
Homologs : HomoloGenePTCD3
Homology/Alignments : Family Browser (UCSC)PTCD3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTCD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTCD3
dbVarPTCD3
ClinVarPTCD3
1000_GenomesPTCD3 
Exome Variant ServerPTCD3
ExAC (Exome Aggregation Consortium)PTCD3 (select the gene name)
Genetic variants : HAPMAP55037
Genomic Variants (DGV)PTCD3 [DGVbeta]
DECIPHERPTCD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTCD3 
Mutations
ICGC Data PortalPTCD3 
TCGA Data PortalPTCD3 
Broad Tumor PortalPTCD3
OASIS PortalPTCD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTCD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTCD3
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PTCD3
DgiDB (Drug Gene Interaction Database)PTCD3
DoCM (Curated mutations)PTCD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTCD3 (select a term)
intoGenPTCD3
Cancer3DPTCD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614918   
Orphanet
MedgenPTCD3
Genetic Testing Registry PTCD3
NextProtQ96EY7 [Medical]
TSGene55037
GENETestsPTCD3
Target ValidationPTCD3
Huge Navigator PTCD3 [HugePedia]
snp3D : Map Gene to Disease55037
BioCentury BCIQPTCD3
ClinGenPTCD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55037
Chemical/Pharm GKB GenePA147357465
Clinical trialPTCD3
Miscellaneous
canSAR (ICR)PTCD3 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTCD3
EVEXPTCD3
GoPubMedPTCD3
iHOPPTCD3
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 18 14:04:44 CEST 2017

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