EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
21748337The expression of prolyl hydroxylase domain enzymes are up-regulated and negatively correlated with Bcl-2 in non-small cell lung cancer.Mol Cell Biochem2011 DecChen Sdoi: 10.1007/s11010-011-0976-1
18927305Overexpression of the oxygen sensors PHD-1, PHD-2, PHD-3, and FIH Is associated with tumor aggressiveness in pancreatic endocrine tumors.Clin Cancer Res2008 Oct 15Couvelard Adoi: 10.1158/1078-0432.CCR-07-5258.
19147576Melanoma antigen-11 inhibits the hypoxia-inducible factor prolyl hydroxylase 2 and activates hypoxic response.Cancer Res2009 Jan 15Aprelikova Odoi: 10.1158/0008-5472.CAN-08-0811.
24517638An insertion/deletion polymorphism within the proximal promoter of EGLN2 is associated with susceptibility for gastric cancer in the Chinese population.Genet Test Mol Biomarkers2014 AprWang Jdoi: 10.1089/gtmb.2013.0438
24935227Over-expression of prolyl hydroxylase-1 blocks NF-κB-mediated cyclin D1 expression and proliferation in lung carcinoma cells.Cancer Genet2014 MayXie Xdoi: 10.1016/j.cancergen.2014.04.008
24894671Polymorphism in PHD1 gene and risk of non-small cell lung cancer in a Chinese population.Tumour Biol2014 SepChe Jdoi: 10.1007/s13277-014-2112-9
16649251Soluble nickel inhibits HIF-prolyl-hydroxylases creating persistent hypoxic signaling in A549 cells.Mol Carcinog2006 JulDavidson TL-
26492917EglN2 associates with the NRF1-PGC1α complex and controls mitochondrial function in breast cancer.EMBO J2015 Dec 2Zhang Jdoi: 10.15252/embj.201591437
20727020DNA methylation analysis of the HIF-1α prolyl hydroxylase domain genes PHD1, PHD2, PHD3 and the factor inhibiting HIF gene FIH in invasive breast carcinomas.Histopathology2010 SepHuang KTdoi: 10.1111/j.1365-2559.2010.03633.x
28036276EglN2 contributes to triple negative breast tumorigenesis by functioning as a substrate for the FBW7 tumor suppressor.Oncotarget2017 Jan 24Takada Mdoi: 10.18632/oncotarget.14290.
29693343Detection of a 4-bp Insertion/deletion Polymorphism within the Promoter of EGLN2 Using Mismatch PCR-RFLP and Its Association with Susceptibility to Breast CancerAsian Pac J Cancer Prev2018 Apr 25Hashemi M-

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr19408078883'UTRnovel0.18
BLCAchr1940801107Missense_MutationNAL179V0.16
BLCAchr1940807168Missense_MutationnovelE332K0.25
BLCAchr1940800802Missense_Mutationrs541800008R77Q0.232OG-FeII_Oxy
BLCAchr1940807168Missense_MutationnovelE332Q0.3
BLCAchr1940801118Silentrs373843220I182I0.37
BRCAchr19408087003'Flanknovel0.07
BRCAchr19408103643'Flanknovel0.28
BRCAchr19408078943'UTRnovel0.09
CESCchr1940801167Missense_MutationnovelG199W0.06
CESCchr19408104173'Flanknovel0.38
CESCchr1940800760Frame_Shift_DelnovelR65Efs*860.292OG-FeII_Oxy
CESCchr19408080783'UTRnovel0.19
CESCchr19408099623'Flanknovel0.35
CESCchr1940801225Missense_Mutationrs756541267R218H0.14
CESCchr1940806602Silentrs200455370H297H0.31
CESCchr19408081663'UTRnovel0.47
CESCchr19408082163'UTRnovel0.2
CESCchr19408097963'Flanknovel0.12
COADchr1940801053Missense_MutationnovelA161T0.29
COADchr19408005305'UTRrs1818742260.28
COADchr1940806581SilentnovelN290N0.13
COADchr1940801149Missense_MutationNAV193I0.56
COADchr1940801148Silentrs781201989C192C0.1
COADchr1940806565Missense_Mutationrs763273304A285V0.43
COADchr1940801235Silentrs150973573D221D0.28
COADchr1940807839Missense_MutationNAV400A0.38
COADchr1940800760Frame_Shift_DelnovelR65Efs*860.462OG-FeII_Oxy
ESCAchr1940807147Missense_Mutationrs375774477G325S0.53
ESCAchr1940800692SilentnovelL40L0.1
GBMchr1940807195Missense_MutationnovelE341K0.04
GBMchr1940807237Missense_MutationNAR355W0.33
HNSCchr1940801224Missense_Mutationrs140368149R218C0.4
HNSCchr1940801134Missense_MutationNAY188H0.2
HNSCchr1940806612Missense_MutationnovelP301T0.33
KIRCchr1940801088SilentnovelS172S0.33
KIRCchr1940801330Missense_MutationNAI253S0.4
KIRCchr1940800714Missense_MutationNAY48H0.182OG-FeII_Oxy
KIRPchr1940800859Missense_MutationnovelA96V0.51
KIRPchr1940800698Nonsense_MutationNAC42*0.322OG-FeII_Oxy
LAMLchr1940801079Silentrs780315358A169A0.36
LGGchr1940800695SilentnovelP41P0.13
LGGchr1940801224Missense_Mutationrs140368149R218C0.35
LIHCchr1940801224Missense_Mutationrs140368149R218C0.5
LIHCchr1940807265Missense_MutationnovelY364C0.26
LIHCchr1940801408Missense_MutationnovelR279L0.25
LIHCchr1940800845SilentnovelL91L0.08
LUADchr1940801114Missense_Mutationrs763604374Y181C0.35
LUADchr1940801089Missense_MutationnovelA173S0.57
LUADchr1940806631Missense_MutationNAC307F0.25
LUADchr1940807807Splice_SitenovelX390_splice0.32
LUSCchr1940800801Missense_MutationNAR77W0.282OG-FeII_Oxy
OVchr1940806588Missense_Mutationrs756756342G293R0.44
OVchr1940801131Missense_Mutationrs765288136R187W0.29
OVchr1940801170Missense_MutationnovelA200P0.11
OVchr1940807180Missense_MutationNAV336M0.9
PAADchr19408079463'UTRnovel0.08
PAADchr1940800911SilentnovelR113R0.1
PRADchr1940801355Silentrs764479296D261D0.35
SARCchr19408086543'Flanknovel0.19
SARCchr1940801278Missense_MutationNAR236C0.19
SKCMchr1940801164SilentNAL198L0.34
STADchr1940801221Missense_MutationNAG217R0.35
STADchr1940800878Frame_Shift_DelnovelC104Afs*470.22
STADchr1940800886Missense_MutationnovelQ105R0.29
STADchr1940801219Missense_MutationNAG216D0.13
STADchr1940807512Missense_MutationNAA377T0.07
STADchr1940800899SilentnovelA109A0.33
STADchr1940800760Frame_Shift_DelnovelR65Efs*860.332OG-FeII_Oxy
UCECchr19408081433'UTRnovel0.57
UCECchr19408100203'Flanknovel0.36
UCECchr1940800897Missense_MutationnovelA109T0.26
UCECchr1940807272Splice_RegionnovelT366T0.37
UCECchr1940801013Missense_MutationnovelE147D0.38
UCECchr1940801268SilentNAP232P0.3
UCECchr1940807194SilentnovelI340I0.32
UCECchr19408104433'Flanknovel0.4
UCECchr1940806640Missense_MutationNAC310Y0.27
UCECchr1940806582Missense_Mutationrs371327034G291R0.08
UCECchr1940800602Silentrs761930466L10L0.21
UCECchr19408078793'UTRnovel0.2
UCECchr1940800973Missense_MutationnovelR134L0.38
UCECchr19408005335'UTRnovel0.45
UCECchr19408079223'UTRnovel0.25
UCECchr1940800774Missense_MutationnovelA68T0.562OG-FeII_Oxy
UCECchr1940806668Silentrs771008177D319D0.29
UCECchr1940807521Missense_MutationnovelR380W0.33
UCECchr1940800648Nonsense_MutationnovelE26*0.112OG-FeII_Oxy
UCECchr1940806618Missense_MutationNAG303S0.45
UCECchr1940806582Missense_Mutationrs371327034G291R0.09
UCECchr1940807854Missense_Mutationrs141698095T405M0.34
UCECchr1940800973Missense_MutationnovelR134Q0.41
UCECchr1940807846SilentnovelQ402Q0.49
UCECchr1940806641SilentnovelC310C0.33
UCECchr19408079333'UTRnovel0.26
UCECchr19408081083'UTRnovel0.3
UCECchr19408100163'Flanknovel0.32
UCECchr19408088333'Flanknovel0.34
UCECchr19408104783'Flanknovel0.5
UCECchr19408104793'Flanknovel0.58
UCECchr1940801170Missense_MutationnovelA200T0.18
UCECchr19408080843'UTRnovel0.32
UCECchr19408081883'UTRnovel0.3
UCECchr19408100473'Flanknovel0.25
UCECchr1940801417Splice_SitenovelX281_splice0.27
UCECchr19408104793'Flanknovel0.44
UCECchr1940806606Missense_MutationNAD299Y0.35
UCECchr19408107393'Flanknovel0.28
UCECchr1940801098Missense_MutationnovelR176C0.37
UCECchr19408088203'Flanknovel0.35
UCECchr19408005195'UTRnovel0.3

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
KIRPDEL0.04510.054726
READDEL0.05450.23023
UCSDEL0.16070.12448

Survival Analysis
CancerP-value Q-value
KIRC0.0001

Kaplan-Meier Survival Analysis

ACC0.014

Kaplan-Meier Survival Analysis

UCS0.013

Kaplan-Meier Survival Analysis

HNSC0.01

Kaplan-Meier Survival Analysis

SKCM0.0073

Kaplan-Meier Survival Analysis

BRCA0.047

Kaplan-Meier Survival Analysis

PAAD0.00075

Kaplan-Meier Survival Analysis

PCPG0.03

Kaplan-Meier Survival Analysis

CESC0.0019

Kaplan-Meier Survival Analysis

LIHC0.02

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

UVM0.034

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBDs
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000269858 (Gene tree)
Gene ID
112398
Gene Symbol
EGLN2
Alias
PHD1|HIFPH1
Full Name
egl-9 family hypoxia inducible factor 2
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
9,446 bases
Position
chr19:40,798,996-40,808,441
Accession
14660
RBP type
canonical RBP
Summary
The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
RNA binding domains(RBDs)
Protein IDDomain Pfam IDE-value Domain number Total number
ENSP000004724142OG-FeII_OxyPF03171.200.0001811

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
23026137An insertion/deletion polymorphism within RERT-lncRNA modulates hepatocellular carcinoma risk.Cancer Res2012 Dec 1Zhu Zdoi: 10.1158/0008-5472.CAN-12-0010
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000598654EGLN2-215590-ENSP00000471568101 (aa)-M0R110
ENST00000593477EGLN2-2051391--- (aa)--
ENST00000599579EGLN2-2163894--- (aa)--
ENST00000594140EGLN2-209991-ENSP00000472414125 (aa)-A0A0C4DGR4
ENST00000602166EGLN2-218684--- (aa)--
ENST00000593525EGLN2-206709-ENSP0000046927277 (aa)-M0QXM8
ENST00000593397EGLN2-203572-ENSP0000047214672 (aa)-M0R1W4
ENST00000593972EGLN2-208935-ENSP00000471546139 (aa)-M0R0Z6
ENST00000595621EGLN2-212758-ENSP0000047194496 (aa)-M0R1L0
ENST00000303961EGLN2-2012102-ENSP00000307080407 (aa)-Q96KS0
ENST00000406058EGLN2-2022150-ENSP00000385253407 (aa)-Q96KS0
ENST00000593726EGLN2-2072821-ENSP00000469686407 (aa)-Q96KS0
ENST00000594380EGLN2-210597-ENSP0000047096887 (aa)-M0R035
ENST00000601733EGLN2-217584-ENSP0000046932394 (aa)-M0QXR0
ENST00000593445EGLN2-2043034--- (aa)--
ENST00000597746EGLN2-214459-ENSP00000472991128 (aa)-M0R350
ENST00000595051EGLN2-211477-ENSP0000047174051 (aa)-M0R1A3
ENST00000596517EGLN2-213574-ENSP0000047287067 (aa)-M0R2X9
Gene Model
Click here to download ENSG00000269858's gene model file
Pathways
Pathway IDPathway NameSource
hsa04066HIF-1 signaling pathwayKEGG
hsa05200Pathways in cancerKEGG
hsa05211Renal cell carcinomaKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000269858Bronchodilator Agents3E-626634245
ENSG00000269858Forced Expiratory Volume3E-626634245
ENSG00000269858Bronchodilator Agents4E-626634245
ENSG00000269858Forced Expiratory Volume4E-626634245
ENSG00000269858Bronchodilator Agents4E-626634245
ENSG00000269858Forced Expiratory Volume4E-626634245
ENSG00000269858Bronchodilator Agents4E-626634245
ENSG00000269858Forced Expiratory Volume4E-626634245
ENSG00000269858Bronchodilator Agents5E-626634245
ENSG00000269858Forced Expiratory Volume5E-626634245
ENSG00000269858Smoking1E-820418890
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000269858rs1171399691940806017TPost bronchodilator FEV126634245NR unit decrease0.159EFO_0004314|GO_0097366
ENSG00000269858rs37338291940804666GSmoking behavior20418890[0.22-0.44] CPD increase0.33EFO_0004318
ENSG00000269858rs617509531940800745THematocrit27863252[0.066-0.122] unit decrease0.09388035EFO_0004348
ENSG00000269858rs1840885181940799233THemoglobin concentration27863252[0.076-0.125] unit decrease0.1005758EFO_0004509
ENSG00000269858rs617509531940800745THemoglobin concentration27863252[0.06-0.117] unit decrease0.08824054EFO_0004509
ENSG00000269858rs1178218471940804983TPost bronchodilator FEV126634245NR unit increase0.159EFO_0004314|GO_0097366
ENSG00000269858rs1173916641940803245APost bronchodilator FEV126634245NR unit increase0.159EFO_0004314|GO_0097366
ENSG00000269858rs1445539301940807356TPost bronchodilator FEV126634245NR unit increase0.16EFO_0004314|GO_0097366
ENSG00000269858rs1178510581940803685APost bronchodilator FEV126634245NR unit increase0.161EFO_0004314|GO_0097366
ENSG00000269858rs1840885181940799233?Red blood cell count30595370EFO_0004305
ENSG00000269858rs37338291940804666GSmoking behaviour (cigarettes smoked per day)30617275[0.015-0.035] unit increase (replication)0.025EFO_0006525
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000269858's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000269858EGLN28687.850ENSAPOG00000011715-8887.850Acanthochromis_polyacanthus
ENSG00000269858EGLN210099.200ENSCAPG00000013614-10099.200Cavia_aperea
ENSG00000269858EGLN210098.400ENSDORG00000025780-10098.400Dipodomys_ordii
ENSG00000269858EGLN28688.785ENSGACG00000009469egln29476.786Gasterosteus_aculeatus
ENSG00000269858EGLN28787.156ENSHCOG00000006766-9487.156Hippocampus_comes
ENSG00000269858EGLN29996.774ENSJJAG00000014701-9996.774Jaculus_jaculus
ENSG00000269858EGLN210098.400ENSMAUG00000014877-10098.400Mesocricetus_auratus
ENSG00000269858EGLN210098.400ENSODEG00000001673-10098.400Octodon_degus
ENSG00000269858EGLN29685.833ENSPKIG00000009905-9785.833Paramormyrops_kingsleyae
ENSG00000269858EGLN29685.000ENSSFOG00015005231-9785.000Scleropages_formosus
ENSG00000269858EGLN28689.720ENSSPUG00000018287-10089.720Sphenodon_punctatus
ENSG00000269858EGLN29379.310ENSTNIG00000005924-9679.310Tetraodon_nigroviridis
ENSG00000269858EGLN210099.200ENSUAMG00000013811-10099.200Ursus_americanus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001558regulation of cell growth11850811.NASProcess
GO:0001666response to hypoxia11595184.IDAProcess
GO:0005515protein binding16511565.17353276.22286099.IPIFunction
GO:0005634nucleus11850811.12615973.IDAComponent
GO:0005654nucleoplasm-IDAComponent
GO:0005654nucleoplasm-TASComponent
GO:0008198ferrous iron binding28594552.IDAFunction
GO:0008198ferrous iron binding12039559.NASFunction
GO:0016706oxidoreductase 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 donors11595184.22955912.IDAFunction
GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-proline11598268.12039559.IDAProcess
GO:0019826oxygen sensor activity11595184.IDAFunction
GO:0030520intracellular estrogen receptor signaling pathway11850811.NASProcess
GO:0031418L-ascorbic acid binding-IEAFunction
GO:0031545peptidyl-proline 4-dioxygenase activity11598268.12039559.IDAFunction
GO:0043523regulation of neuron apoptotic process19587290.IMPProcess
GO:0045454cell redox homeostasis11595184.IDAProcess
GO:0045732positive regulation of protein catabolic process11595184.IDAProcess
GO:0055114oxidation-reduction process-IEAProcess
GO:0061418regulation of transcription from RNA polymerase II promoter in response to hypoxia-TASProcess
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