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P3H3 (prolyl 3-hydroxylase 3)

Identity

Alias_namesLEPREL2
leprecan-like 2
Alias_symbol (synonym)GRCB
HSU47926
Other alias
HGNC (Hugo) P3H3
LocusID (NCBI) 10536
Atlas_Id 56433
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 6828373 and ends at 6839854 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)
P3H3 (12p13.31) / INS-IGF2 (11p15.5)P3H3 (12p13.31) / RPL14 (3p22.1)PTPN6 (12p13.31) / P3H3 (12p13.31)

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)P3H3   19318
Cards
Entrez_Gene (NCBI)P3H3  10536  prolyl 3-hydroxylase 3
AliasesGRCB; HSU47926; LEPREL2
GeneCards (Weizmann)P3H3
Ensembl hg19 (Hinxton)ENSG00000110811 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110811 [Gene_View]  chr12:6828373-6839854 [Contig_View]  P3H3 [Vega]
ICGC DataPortalENSG00000110811
TCGA cBioPortalP3H3
AceView (NCBI)P3H3
Genatlas (Paris)P3H3
WikiGenes10536
SOURCE (Princeton)P3H3
Genetics Home Reference (NIH)P3H3
Genomic and cartography
GoldenPath hg38 (UCSC)P3H3  -     chr12:6828373-6839854 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P3H3  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblP3H3 - 12p13.31 [CytoView hg19]  P3H3 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIP3H3 [Mapview hg19]  P3H3 [Mapview hg38]
OMIM610342   
Gene and transcription
Genbank (Entrez)AB209320 AJ430349 AK025976 AK096771 AK126766
RefSeq transcript (Entrez)NM_014262
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P3H3
Cluster EST : UnigeneHs.631655 [ NCBI ]
CGAP (NCI)Hs.631655
Alternative Splicing GalleryENSG00000110811
Gene ExpressionP3H3 [ NCBI-GEO ]   P3H3 [ EBI - ARRAY_EXPRESS ]   P3H3 [ SEEK ]   P3H3 [ MEM ]
Gene Expression Viewer (FireBrowse)P3H3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10536
GTEX Portal (Tissue expression)P3H3
Human Protein AtlasENSG00000110811-P3H3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVL6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IVL6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IVL6
Splice isoforms : SwissVarQ8IVL6
Catalytic activity : Enzyme1.14.11.7 [ Enzyme-Expasy ]   1.14.11.71.14.11.7 [ IntEnz-EBI ]   1.14.11.7 [ BRENDA ]   1.14.11.7 [ KEGG ]   
PhosPhoSitePlusQ8IVL6
Domaine pattern : Prosite (Expaxy)ER_TARGET (PS00014)    FE2OG_OXY (PS51471)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    TPR-like_helical_dom   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (NCBI)pfam13640   
Domain families : Smart (EMBL)P4Hc (SM00702)  
Conserved Domain (NCBI)P3H3
DMDM Disease mutations10536
Blocks (Seattle)P3H3
SuperfamilyQ8IVL6
Human Protein Atlas [tissue]ENSG00000110811-P3H3 [tissue]
Peptide AtlasQ8IVL6
HPRD10039
IPIIPI00217056   IPI00760934   IPI00908799   IPI00937542   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVL6
IntAct (EBI)Q8IVL6
FunCoupENSG00000110811
BioGRIDP3H3
STRING (EMBL)P3H3
ZODIACP3H3
Ontologies - Pathways
QuickGOQ8IVL6
Ontology : AmiGOiron ion binding  endoplasmic reticulum  negative regulation of cell proliferation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  L-ascorbic acid binding  collagen metabolic process  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  endoplasmic reticulum  negative regulation of cell proliferation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  L-ascorbic acid binding  collagen metabolic process  oxidation-reduction process  
NDEx NetworkP3H3
Atlas of Cancer Signalling NetworkP3H3
Wikipedia pathwaysP3H3
Orthology - Evolution
OrthoDB10536
GeneTree (enSembl)ENSG00000110811
Phylogenetic Trees/Animal Genes : TreeFamP3H3
HOVERGENQ8IVL6
HOGENOMQ8IVL6
Homologs : HomoloGeneP3H3
Homology/Alignments : Family Browser (UCSC)P3H3
Gene fusions - Rearrangements
Tumor Fusion PortalP3H3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP3H3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P3H3
dbVarP3H3
ClinVarP3H3
1000_GenomesP3H3 
Exome Variant ServerP3H3
ExAC (Exome Aggregation Consortium)ENSG00000110811
GNOMAD BrowserENSG00000110811
Genetic variants : HAPMAP10536
Genomic Variants (DGV)P3H3 [DGVbeta]
DECIPHERP3H3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP3H3 
Mutations
ICGC Data PortalP3H3 
TCGA Data PortalP3H3 
Broad Tumor PortalP3H3
OASIS PortalP3H3 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDP3H3
BioMutasearch P3H3
DgiDB (Drug Gene Interaction Database)P3H3
DoCM (Curated mutations)P3H3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P3H3 (select a term)
intoGenP3H3
Cancer3DP3H3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610342   
Orphanet
DisGeNETP3H3
MedgenP3H3
Genetic Testing Registry P3H3
NextProtQ8IVL6 [Medical]
TSGene10536
GENETestsP3H3
Target ValidationP3H3
Huge Navigator P3H3 [HugePedia]
snp3D : Map Gene to Disease10536
BioCentury BCIQP3H3
ClinGenP3H3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10536
Chemical/Pharm GKB GenePA134890414
Clinical trialP3H3
Miscellaneous
canSAR (ICR)P3H3 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP3H3
EVEXP3H3
GoPubMedP3H3
iHOPP3H3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:51:03 CET 2017

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