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P3H2 (prolyl 3-hydroxylase 2)

Identity

Alias_namesLEPREL1
leprecan-like 1
Alias_symbol (synonym)FLJ10718
MLAT4
Other aliasMCVD
HGNC (Hugo) P3H2
LocusID (NCBI) 55214
Atlas_Id 41141
Location 3q28  [Link to chromosome band 3q28]
Location_base_pair Starts at 189674517 and ends at 189840226 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V1D (14q23.3) / P3H2 (3q28)P3H2 (3q28) / DHRS7B (17p11.2)P3H2 (3q28) / TP63 (3q28)
SLC1A5 (19q13.32) / P3H2 (3q28)

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)P3H2   19317
Cards
Entrez_Gene (NCBI)P3H2  55214  prolyl 3-hydroxylase 2
AliasesLEPREL1; MCVD; MLAT4
GeneCards (Weizmann)P3H2
Ensembl hg19 (Hinxton)ENSG00000090530 [Gene_View]  chr3:189674517-189840226 [Contig_View]  P3H2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000090530 [Gene_View]  chr3:189674517-189840226 [Contig_View]  P3H2 [Vega]
ICGC DataPortalENSG00000090530
TCGA cBioPortalP3H2
AceView (NCBI)P3H2
Genatlas (Paris)P3H2
WikiGenes55214
SOURCE (Princeton)P3H2
Genetics Home Reference (NIH)P3H2
Genomic and cartography
GoldenPath hg19 (UCSC)P3H2  -     chr3:189674517-189840226 -  3q28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)P3H2  -     3q28   [Description]    (hg38-Dec_2013)
EnsemblP3H2 - 3q28 [CytoView hg19]  P3H2 - 3q28 [CytoView hg38]
Mapping of homologs : NCBIP3H2 [Mapview hg19]  P3H2 [Mapview hg38]
OMIM610341   614292   
Gene and transcription
Genbank (Entrez)AJ430351 AK001580 AK056447 AK125134 BC005029
RefSeq transcript (Entrez)NM_001134418 NM_018192
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_031929 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)P3H2
Cluster EST : UnigeneHs.374191 [ NCBI ]
CGAP (NCI)Hs.374191
Alternative Splicing GalleryENSG00000090530
Gene ExpressionP3H2 [ NCBI-GEO ]   P3H2 [ EBI - ARRAY_EXPRESS ]   P3H2 [ SEEK ]   P3H2 [ MEM ]
Gene Expression Viewer (FireBrowse)P3H2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55214
GTEX Portal (Tissue expression)P3H2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVL5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IVL5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IVL5
Splice isoforms : SwissVarQ8IVL5
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 ]   
PhosPhoSitePlusQ8IVL5
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    TPR_2   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)    TPR_2 (PF07719)   
Domain families : Pfam (NCBI)pfam13640    pfam07719   
Domain families : Smart (EMBL)P4Hc (SM00702)  
Conserved Domain (NCBI)P3H2
DMDM Disease mutations55214
Blocks (Seattle)P3H2
SuperfamilyQ8IVL5
Human Protein AtlasENSG00000090530
Peptide AtlasQ8IVL5
HPRD17270
IPIIPI00217055   IPI00797739   IPI00926116   IPI00925912   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVL5
IntAct (EBI)Q8IVL5
FunCoupENSG00000090530
BioGRIDP3H2
STRING (EMBL)P3H2
ZODIACP3H2
Ontologies - Pathways
QuickGOQ8IVL5
Ontology : AmiGOiron ion binding  basement membrane  endoplasmic reticulum  endoplasmic reticulum lumen  Golgi apparatus  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  basement membrane  endoplasmic reticulum  endoplasmic reticulum lumen  Golgi apparatus  negative regulation of cell proliferation  peptidyl-proline hydroxylation  procollagen-proline 3-dioxygenase activity  L-ascorbic acid binding  collagen metabolic process  oxidation-reduction process  
NDEx NetworkP3H2
Atlas of Cancer Signalling NetworkP3H2
Wikipedia pathwaysP3H2
Orthology - Evolution
OrthoDB55214
GeneTree (enSembl)ENSG00000090530
Phylogenetic Trees/Animal Genes : TreeFamP3H2
HOVERGENQ8IVL5
HOGENOMQ8IVL5
Homologs : HomoloGeneP3H2
Homology/Alignments : Family Browser (UCSC)P3H2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP3H2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P3H2
dbVarP3H2
ClinVarP3H2
1000_GenomesP3H2 
Exome Variant ServerP3H2
ExAC (Exome Aggregation Consortium)P3H2 (select the gene name)
Genetic variants : HAPMAP55214
Genomic Variants (DGV)P3H2 [DGVbeta]
DECIPHER (Syndromes)3:189674517-189840226  ENSG00000090530
CONAN: Copy Number AnalysisP3H2 
Mutations
ICGC Data PortalP3H2 
TCGA Data PortalP3H2 
Broad Tumor PortalP3H2
OASIS PortalP3H2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDP3H2
BioMutasearch P3H2
DgiDB (Drug Gene Interaction Database)P3H2
DoCM (Curated mutations)P3H2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P3H2 (select a term)
intoGenP3H2
Cancer3DP3H2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610341    614292   
Orphanet13636   
MedgenP3H2
Genetic Testing Registry P3H2
NextProtQ8IVL5 [Medical]
TSGene55214
GENETestsP3H2
Huge Navigator P3H2 [HugePedia]
snp3D : Map Gene to Disease55214
BioCentury BCIQP3H2
ClinGenP3H2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55214
Chemical/Pharm GKB GenePA134922807
Clinical trialP3H2
Miscellaneous
canSAR (ICR)P3H2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP3H2
EVEXP3H2
GoPubMedP3H2
iHOPP3H2
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 13:20:09 CET 2017

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