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P4HTM (prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum))

Identity

Alias_namesprolyl 4-hydroxylase
Alias_symbol (synonym)P4H-TM
PHD4
PH4
HIFPH4
FLJ20262
EGLN4
PH-4
Other alias
HGNC (Hugo) P4HTM
LocusID (NCBI) 54681
Atlas_Id 46815
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 49027341 and ends at 49044581 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
P4HTM (3p21.31) / ARHGAP35 (19q13.32)P4HTM (3p21.31) / LOC145837 ()P4HTM (3p21.31) / MEIOB (16p13.3)
PLXNB2 (22q13.33) / P4HTM (3p21.31)SRRM2 (16p13.3) / P4HTM (3p21.31)P4HTM 3p21.31 C16orf73
PLXNB2 22q13.33 / P4HTM 3p21.31

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)P4HTM   28858
Cards
Entrez_Gene (NCBI)P4HTM  54681  prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
AliasesEGLN4; HIFPH4; P4H-TM; PH-4; 
PH4; PHD4
GeneCards (Weizmann)P4HTM
Ensembl hg19 (Hinxton)ENSG00000178467 [Gene_View]  chr3:49027341-49044581 [Contig_View]  P4HTM [Vega]
Ensembl hg38 (Hinxton)ENSG00000178467 [Gene_View]  chr3:49027341-49044581 [Contig_View]  P4HTM [Vega]
ICGC DataPortalENSG00000178467
TCGA cBioPortalP4HTM
AceView (NCBI)P4HTM
Genatlas (Paris)P4HTM
WikiGenes54681
SOURCE (Princeton)P4HTM
Genetics Home Reference (NIH)P4HTM
Genomic and cartography
GoldenPath hg19 (UCSC)P4HTM  -     chr3:49027341-49044581 +  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)P4HTM  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblP4HTM - 3p21.31 [CytoView hg19]  P4HTM - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBIP4HTM [Mapview hg19]  P4HTM [Mapview hg38]
OMIM614584   
Gene and transcription
Genbank (Entrez)AI079878 AK000269 AK309082 AL713728 AW072069
RefSeq transcript (Entrez)NM_017732 NM_177938 NM_177939
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)P4HTM
Cluster EST : UnigeneHs.654944 [ NCBI ]
CGAP (NCI)Hs.654944
Alternative Splicing GalleryENSG00000178467
Gene ExpressionP4HTM [ NCBI-GEO ]   P4HTM [ EBI - ARRAY_EXPRESS ]   P4HTM [ SEEK ]   P4HTM [ MEM ]
Gene Expression Viewer (FireBrowse)P4HTM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54681
GTEX Portal (Tissue expression)P4HTM
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NXG6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NXG6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NXG6
Splice isoforms : SwissVarQ9NXG6
Catalytic activity : Enzyme1.14.11.- [ Enzyme-Expasy ]   1.14.11.-1.14.11.- [ IntEnz-EBI ]   1.14.11.- [ BRENDA ]   1.14.11.- [ KEGG ]   
PhosPhoSitePlusQ9NXG6
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    FE2OG_OXY (PS51471)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)   
Domain families : Pfam (NCBI)pfam13640   
Domain families : Smart (EMBL)P4Hc (SM00702)  
Conserved Domain (NCBI)P4HTM
DMDM Disease mutations54681
Blocks (Seattle)P4HTM
SuperfamilyQ9NXG6
Human Protein AtlasENSG00000178467
Peptide AtlasQ9NXG6
HPRD17842
IPIIPI00219456   IPI00328950   IPI00479623   IPI00927523   
Protein Interaction databases
DIP (DOE-UCLA)Q9NXG6
IntAct (EBI)Q9NXG6
FunCoupENSG00000178467
BioGRIDP4HTM
STRING (EMBL)P4HTM
ZODIACP4HTM
Ontologies - Pathways
QuickGOQ9NXG6
Ontology : AmiGOiron ion binding  calcium ion binding  endoplasmic reticulum membrane  integral component of membrane  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  L-ascorbic acid binding  regulation of erythrocyte differentiation  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  calcium ion binding  endoplasmic reticulum membrane  integral component of membrane  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors  L-ascorbic acid binding  regulation of erythrocyte differentiation  oxidation-reduction process  
NDEx NetworkP4HTM
Atlas of Cancer Signalling NetworkP4HTM
Wikipedia pathwaysP4HTM
Orthology - Evolution
OrthoDB54681
GeneTree (enSembl)ENSG00000178467
Phylogenetic Trees/Animal Genes : TreeFamP4HTM
HOVERGENQ9NXG6
HOGENOMQ9NXG6
Homologs : HomoloGeneP4HTM
Homology/Alignments : Family Browser (UCSC)P4HTM
Gene fusions - Rearrangements
Fusion : MitelmanP4HTM/MEIOB [3p21.31/16p13.3]  
Fusion : MitelmanPLXNB2/P4HTM [22q13.33/3p21.31]  [t(3;22)(p21;q13)]  
Fusion: TCGAP4HTM 3p21.31 C16orf73 BRCA
Fusion: TCGAPLXNB2 22q13.33 P4HTM 3p21.31 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HTM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HTM
dbVarP4HTM
ClinVarP4HTM
1000_GenomesP4HTM 
Exome Variant ServerP4HTM
ExAC (Exome Aggregation Consortium)P4HTM (select the gene name)
Genetic variants : HAPMAP54681
Genomic Variants (DGV)P4HTM [DGVbeta]
DECIPHER (Syndromes)3:49027341-49044581  ENSG00000178467
CONAN: Copy Number AnalysisP4HTM 
Mutations
ICGC Data PortalP4HTM 
TCGA Data PortalP4HTM 
Broad Tumor PortalP4HTM
OASIS PortalP4HTM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP4HTM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDP4HTM
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch P4HTM
DgiDB (Drug Gene Interaction Database)P4HTM
DoCM (Curated mutations)P4HTM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P4HTM (select a term)
intoGenP4HTM
Cancer3DP4HTM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614584   
Orphanet
MedgenP4HTM
Genetic Testing Registry P4HTM
NextProtQ9NXG6 [Medical]
TSGene54681
GENETestsP4HTM
Huge Navigator P4HTM [HugePedia]
snp3D : Map Gene to Disease54681
BioCentury BCIQP4HTM
ClinGenP4HTM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54681
Chemical/Pharm GKB GenePA164724295
Clinical trialP4HTM
Miscellaneous
canSAR (ICR)P4HTM (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP4HTM
EVEXP4HTM
GoPubMedP4HTM
iHOPP4HTM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:13:21 CEST 2017

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