EuRBPDB

Basic Information
Cancer Related Information

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 ID	Domain	Pfam ID	E-value	Domain number	Total number
ENSP00000472414	2OG-FeII_Oxy	PF03171.20	0.00018	1	1

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
23026137	An insertion/deletion polymorphism within RERT-lncRNA modulates hepatocellular carcinoma risk.	Cancer Res	2012 Dec 1	Zhu Z	doi: 10.1158/0008-5472.CAN-12-0010

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000598654	EGLN2-215	590	-	ENSP00000471568	101 (aa)	-	M0R110
ENST00000593477	EGLN2-205	1391	-	-	- (aa)	-	-
ENST00000599579	EGLN2-216	3894	-	-	- (aa)	-	-
ENST00000594140	EGLN2-209	991	-	ENSP00000472414	125 (aa)	-	A0A0C4DGR4
ENST00000602166	EGLN2-218	684	-	-	- (aa)	-	-
ENST00000593525	EGLN2-206	709	-	ENSP00000469272	77 (aa)	-	M0QXM8
ENST00000593397	EGLN2-203	572	-	ENSP00000472146	72 (aa)	-	M0R1W4
ENST00000593972	EGLN2-208	935	-	ENSP00000471546	139 (aa)	-	M0R0Z6
ENST00000595621	EGLN2-212	758	-	ENSP00000471944	96 (aa)	-	M0R1L0
ENST00000303961	EGLN2-201	2102	-	ENSP00000307080	407 (aa)	-	Q96KS0
ENST00000406058	EGLN2-202	2150	-	ENSP00000385253	407 (aa)	-	Q96KS0
ENST00000593726	EGLN2-207	2821	-	ENSP00000469686	407 (aa)	-	Q96KS0
ENST00000594380	EGLN2-210	597	-	ENSP00000470968	87 (aa)	-	M0R035
ENST00000601733	EGLN2-217	584	-	ENSP00000469323	94 (aa)	-	M0QXR0
ENST00000593445	EGLN2-204	3034	-	-	- (aa)	-	-
ENST00000597746	EGLN2-214	459	-	ENSP00000472991	128 (aa)	-	M0R350
ENST00000595051	EGLN2-211	477	-	ENSP00000471740	51 (aa)	-	M0R1A3
ENST00000596517	EGLN2-213	574	-	ENSP00000472870	67 (aa)	-	M0R2X9

Gene Model

Click here to download ENSG00000269858's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04066	HIF-1 signaling pathway	KEGG
hsa05200	Pathways in cancer	KEGG
hsa05211	Renal cell carcinoma	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000269858	Bronchodilator Agents	3E-6	26634245
ENSG00000269858	Forced Expiratory Volume	3E-6	26634245
ENSG00000269858	Bronchodilator Agents	4E-6	26634245
ENSG00000269858	Forced Expiratory Volume	4E-6	26634245
ENSG00000269858	Bronchodilator Agents	4E-6	26634245
ENSG00000269858	Forced Expiratory Volume	4E-6	26634245
ENSG00000269858	Bronchodilator Agents	4E-6	26634245
ENSG00000269858	Forced Expiratory Volume	4E-6	26634245
ENSG00000269858	Bronchodilator Agents	5E-6	26634245
ENSG00000269858	Forced Expiratory Volume	5E-6	26634245
ENSG00000269858	Smoking	1E-8	20418890

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000269858	rs117139969	19	40806017	T	Post bronchodilator FEV1	26634245	NR unit decrease	0.159	EFO_0004314\|GO_0097366
ENSG00000269858	rs3733829	19	40804666	G	Smoking behavior	20418890	[0.22-0.44] CPD increase	0.33	EFO_0004318
ENSG00000269858	rs61750953	19	40800745	T	Hematocrit	27863252	[0.066-0.122] unit decrease	0.09388035	EFO_0004348
ENSG00000269858	rs184088518	19	40799233	T	Hemoglobin concentration	27863252	[0.076-0.125] unit decrease	0.1005758	EFO_0004509
ENSG00000269858	rs61750953	19	40800745	T	Hemoglobin concentration	27863252	[0.06-0.117] unit decrease	0.08824054	EFO_0004509
ENSG00000269858	rs117821847	19	40804983	T	Post bronchodilator FEV1	26634245	NR unit increase	0.159	EFO_0004314\|GO_0097366
ENSG00000269858	rs117391664	19	40803245	A	Post bronchodilator FEV1	26634245	NR unit increase	0.159	EFO_0004314\|GO_0097366
ENSG00000269858	rs144553930	19	40807356	T	Post bronchodilator FEV1	26634245	NR unit increase	0.16	EFO_0004314\|GO_0097366
ENSG00000269858	rs117851058	19	40803685	A	Post bronchodilator FEV1	26634245	NR unit increase	0.161	EFO_0004314\|GO_0097366
ENSG00000269858	rs184088518	19	40799233	?	Red blood cell count	30595370			EFO_0004305
ENSG00000269858	rs3733829	19	40804666	G	Smoking behaviour (cigarettes smoked per day)	30617275	[0.015-0.035] unit increase (replication)	0.025	EFO_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 ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000269858	EGLN2	86	87.850	ENSAPOG00000011715	-	88	87.850	Acanthochromis_polyacanthus
ENSG00000269858	EGLN2	100	99.200	ENSCAPG00000013614	-	100	99.200	Cavia_aperea
ENSG00000269858	EGLN2	100	98.400	ENSDORG00000025780	-	100	98.400	Dipodomys_ordii
ENSG00000269858	EGLN2	86	88.785	ENSGACG00000009469	egln2	94	76.786	Gasterosteus_aculeatus
ENSG00000269858	EGLN2	87	87.156	ENSHCOG00000006766	-	94	87.156	Hippocampus_comes
ENSG00000269858	EGLN2	99	96.774	ENSJJAG00000014701	-	99	96.774	Jaculus_jaculus
ENSG00000269858	EGLN2	100	98.400	ENSMAUG00000014877	-	100	98.400	Mesocricetus_auratus
ENSG00000269858	EGLN2	100	98.400	ENSODEG00000001673	-	100	98.400	Octodon_degus
ENSG00000269858	EGLN2	96	85.833	ENSPKIG00000009905	-	97	85.833	Paramormyrops_kingsleyae
ENSG00000269858	EGLN2	96	85.000	ENSSFOG00015005231	-	97	85.000	Scleropages_formosus
ENSG00000269858	EGLN2	86	89.720	ENSSPUG00000018287	-	100	89.720	Sphenodon_punctatus
ENSG00000269858	EGLN2	93	79.310	ENSTNIG00000005924	-	96	79.310	Tetraodon_nigroviridis
ENSG00000269858	EGLN2	100	99.200	ENSUAMG00000013811	-	100	99.200	Ursus_americanus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0001558	regulation of cell growth	11850811.	NAS	Process
GO:0001666	response to hypoxia	11595184.	IDA	Process
GO:0005515	protein binding	16511565.17353276.22286099.	IPI	Function
GO:0005634	nucleus	11850811.12615973.	IDA	Component
GO:0005654	nucleoplasm	-	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0008198	ferrous iron binding	28594552.	IDA	Function
GO:0008198	ferrous iron binding	12039559.	NAS	Function
GO:0016706	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	11595184.22955912.	IDA	Function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	11598268.12039559.	IDA	Process
GO:0019826	oxygen sensor activity	11595184.	IDA	Function
GO:0030520	intracellular estrogen receptor signaling pathway	11850811.	NAS	Process
GO:0031418	L-ascorbic acid binding	-	IEA	Function
GO:0031545	peptidyl-proline 4-dioxygenase activity	11598268.12039559.	IDA	Function
GO:0043523	regulation of neuron apoptotic process	19587290.	IMP	Process
GO:0045454	cell redox homeostasis	11595184.	IDA	Process
GO:0045732	positive regulation of protein catabolic process	11595184.	IDA	Process
GO:0055114	oxidation-reduction process	-	IEA	Process
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	-	TAS	Process

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
21748337	The expression of prolyl hydroxylase domain enzymes are up-regulated and negatively correlated with Bcl-2 in non-small cell lung cancer.	Mol Cell Biochem	2011 Dec	Chen S	doi: 10.1007/s11010-011-0976-1
18927305	Overexpression of the oxygen sensors PHD-1, PHD-2, PHD-3, and FIH Is associated with tumor aggressiveness in pancreatic endocrine tumors.	Clin Cancer Res	2008 Oct 15	Couvelard A	doi: 10.1158/1078-0432.CCR-07-5258.
19147576	Melanoma antigen-11 inhibits the hypoxia-inducible factor prolyl hydroxylase 2 and activates hypoxic response.	Cancer Res	2009 Jan 15	Aprelikova O	doi: 10.1158/0008-5472.CAN-08-0811.
24517638	An insertion/deletion polymorphism within the proximal promoter of EGLN2 is associated with susceptibility for gastric cancer in the Chinese population.	Genet Test Mol Biomarkers	2014 Apr	Wang J	doi: 10.1089/gtmb.2013.0438
24935227	Over-expression of prolyl hydroxylase-1 blocks NF-κB-mediated cyclin D1 expression and proliferation in lung carcinoma cells.	Cancer Genet	2014 May	Xie X	doi: 10.1016/j.cancergen.2014.04.008
24894671	Polymorphism in PHD1 gene and risk of non-small cell lung cancer in a Chinese population.	Tumour Biol	2014 Sep	Che J	doi: 10.1007/s13277-014-2112-9
16649251	Soluble nickel inhibits HIF-prolyl-hydroxylases creating persistent hypoxic signaling in A549 cells.	Mol Carcinog	2006 Jul	Davidson TL	-
26492917	EglN2 associates with the NRF1-PGC1α complex and controls mitochondrial function in breast cancer.	EMBO J	2015 Dec 2	Zhang J	doi: 10.15252/embj.201591437
20727020	DNA methylation analysis of the HIF-1α prolyl hydroxylase domain genes PHD1, PHD2, PHD3 and the factor inhibiting HIF gene FIH in invasive breast carcinomas.	Histopathology	2010 Sep	Huang KT	doi: 10.1111/j.1365-2559.2010.03633.x
28036276	EglN2 contributes to triple negative breast tumorigenesis by functioning as a substrate for the FBW7 tumor suppressor.	Oncotarget	2017 Jan 24	Takada M	doi: 10.18632/oncotarget.14290.
29693343	Detection of a 4-bp Insertion/deletion Polymorphism within the Promoter of EGLN2 Using Mismatch PCR-RFLP and Its Association with Susceptibility to Breast Cancer	Asian Pac J Cancer Prev	2018 Apr 25	Hashemi M	-

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq	RBD
ACC	chr19	40807888	3'UTR	novel		0.18
BLCA	chr19	40801107	Missense_Mutation	NA	L179V	0.16
BLCA	chr19	40807168	Missense_Mutation	novel	E332K	0.25
BLCA	chr19	40800802	Missense_Mutation	rs541800008	R77Q	0.23	2OG-FeII_Oxy
BLCA	chr19	40807168	Missense_Mutation	novel	E332Q	0.3
BLCA	chr19	40801118	Silent	rs373843220	I182I	0.37
BRCA	chr19	40808700	3'Flank	novel		0.07
BRCA	chr19	40810364	3'Flank	novel		0.28
BRCA	chr19	40807894	3'UTR	novel		0.09
CESC	chr19	40801167	Missense_Mutation	novel	G199W	0.06
CESC	chr19	40810417	3'Flank	novel		0.38
CESC	chr19	40800760	Frame_Shift_Del	novel	*R65Efs86**	0.29	2OG-FeII_Oxy
CESC	chr19	40808078	3'UTR	novel		0.19
CESC	chr19	40809962	3'Flank	novel		0.35
CESC	chr19	40801225	Missense_Mutation	rs756541267	R218H	0.14
CESC	chr19	40806602	Silent	rs200455370	H297H	0.31
CESC	chr19	40808166	3'UTR	novel		0.47
CESC	chr19	40808216	3'UTR	novel		0.2
CESC	chr19	40809796	3'Flank	novel		0.12
COAD	chr19	40801053	Missense_Mutation	novel	A161T	0.29
COAD	chr19	40800530	5'UTR	rs181874226		0.28
COAD	chr19	40806581	Silent	novel	N290N	0.13
COAD	chr19	40801149	Missense_Mutation	NA	V193I	0.56
COAD	chr19	40801148	Silent	rs781201989	C192C	0.1
COAD	chr19	40806565	Missense_Mutation	rs763273304	A285V	0.43
COAD	chr19	40801235	Silent	rs150973573	D221D	0.28
COAD	chr19	40807839	Missense_Mutation	NA	V400A	0.38
COAD	chr19	40800760	Frame_Shift_Del	novel	*R65Efs86**	0.46	2OG-FeII_Oxy
ESCA	chr19	40807147	Missense_Mutation	rs375774477	G325S	0.53
ESCA	chr19	40800692	Silent	novel	L40L	0.1
GBM	chr19	40807195	Missense_Mutation	novel	E341K	0.04
GBM	chr19	40807237	Missense_Mutation	NA	R355W	0.33
HNSC	chr19	40801224	Missense_Mutation	rs140368149	R218C	0.4
HNSC	chr19	40801134	Missense_Mutation	NA	Y188H	0.2
HNSC	chr19	40806612	Missense_Mutation	novel	P301T	0.33
KIRC	chr19	40801088	Silent	novel	S172S	0.33
KIRC	chr19	40801330	Missense_Mutation	NA	I253S	0.4
KIRC	chr19	40800714	Missense_Mutation	NA	Y48H	0.18	2OG-FeII_Oxy
KIRP	chr19	40800859	Missense_Mutation	novel	A96V	0.51
KIRP	chr19	40800698	Nonsense_Mutation	NA	C42*	0.32	2OG-FeII_Oxy
LAML	chr19	40801079	Silent	rs780315358	A169A	0.36
LGG	chr19	40800695	Silent	novel	P41P	0.13
LGG	chr19	40801224	Missense_Mutation	rs140368149	R218C	0.35
LIHC	chr19	40801224	Missense_Mutation	rs140368149	R218C	0.5
LIHC	chr19	40807265	Missense_Mutation	novel	Y364C	0.26
LIHC	chr19	40801408	Missense_Mutation	novel	R279L	0.25
LIHC	chr19	40800845	Silent	novel	L91L	0.08
LUAD	chr19	40801114	Missense_Mutation	rs763604374	Y181C	0.35
LUAD	chr19	40801089	Missense_Mutation	novel	A173S	0.57
LUAD	chr19	40806631	Missense_Mutation	NA	C307F	0.25
LUAD	chr19	40807807	Splice_Site	novel	X390_splice	0.32
LUSC	chr19	40800801	Missense_Mutation	NA	R77W	0.28	2OG-FeII_Oxy
OV	chr19	40806588	Missense_Mutation	rs756756342	G293R	0.44
OV	chr19	40801131	Missense_Mutation	rs765288136	R187W	0.29
OV	chr19	40801170	Missense_Mutation	novel	A200P	0.11
OV	chr19	40807180	Missense_Mutation	NA	V336M	0.9
PAAD	chr19	40807946	3'UTR	novel		0.08
PAAD	chr19	40800911	Silent	novel	R113R	0.1
PRAD	chr19	40801355	Silent	rs764479296	D261D	0.35
SARC	chr19	40808654	3'Flank	novel		0.19
SARC	chr19	40801278	Missense_Mutation	NA	R236C	0.19
SKCM	chr19	40801164	Silent	NA	L198L	0.34
STAD	chr19	40801221	Missense_Mutation	NA	G217R	0.35
STAD	chr19	40800878	Frame_Shift_Del	novel	*C104Afs47**	0.22
STAD	chr19	40800886	Missense_Mutation	novel	Q105R	0.29
STAD	chr19	40801219	Missense_Mutation	NA	G216D	0.13
STAD	chr19	40807512	Missense_Mutation	NA	A377T	0.07
STAD	chr19	40800899	Silent	novel	A109A	0.33
STAD	chr19	40800760	Frame_Shift_Del	novel	*R65Efs86**	0.33	2OG-FeII_Oxy
UCEC	chr19	40808143	3'UTR	novel		0.57
UCEC	chr19	40810020	3'Flank	novel		0.36
UCEC	chr19	40800897	Missense_Mutation	novel	A109T	0.26
UCEC	chr19	40807272	Splice_Region	novel	T366T	0.37
UCEC	chr19	40801013	Missense_Mutation	novel	E147D	0.38
UCEC	chr19	40801268	Silent	NA	P232P	0.3
UCEC	chr19	40807194	Silent	novel	I340I	0.32
UCEC	chr19	40810443	3'Flank	novel		0.4
UCEC	chr19	40806640	Missense_Mutation	NA	C310Y	0.27
UCEC	chr19	40806582	Missense_Mutation	rs371327034	G291R	0.08
UCEC	chr19	40800602	Silent	rs761930466	L10L	0.21
UCEC	chr19	40807879	3'UTR	novel		0.2
UCEC	chr19	40800973	Missense_Mutation	novel	R134L	0.38
UCEC	chr19	40800533	5'UTR	novel		0.45
UCEC	chr19	40807922	3'UTR	novel		0.25
UCEC	chr19	40800774	Missense_Mutation	novel	A68T	0.56	2OG-FeII_Oxy
UCEC	chr19	40806668	Silent	rs771008177	D319D	0.29
UCEC	chr19	40807521	Missense_Mutation	novel	R380W	0.33
UCEC	chr19	40800648	Nonsense_Mutation	novel	E26*	0.11	2OG-FeII_Oxy
UCEC	chr19	40806618	Missense_Mutation	NA	G303S	0.45
UCEC	chr19	40806582	Missense_Mutation	rs371327034	G291R	0.09
UCEC	chr19	40807854	Missense_Mutation	rs141698095	T405M	0.34
UCEC	chr19	40800973	Missense_Mutation	novel	R134Q	0.41
UCEC	chr19	40807846	Silent	novel	Q402Q	0.49
UCEC	chr19	40806641	Silent	novel	C310C	0.33
UCEC	chr19	40807933	3'UTR	novel		0.26
UCEC	chr19	40808108	3'UTR	novel		0.3
UCEC	chr19	40810016	3'Flank	novel		0.32
UCEC	chr19	40808833	3'Flank	novel		0.34
UCEC	chr19	40810478	3'Flank	novel		0.5
UCEC	chr19	40810479	3'Flank	novel		0.58
UCEC	chr19	40801170	Missense_Mutation	novel	A200T	0.18
UCEC	chr19	40808084	3'UTR	novel		0.32
UCEC	chr19	40808188	3'UTR	novel		0.3
UCEC	chr19	40810047	3'Flank	novel		0.25
UCEC	chr19	40801417	Splice_Site	novel	X281_splice	0.27
UCEC	chr19	40810479	3'Flank	novel		0.44
UCEC	chr19	40806606	Missense_Mutation	NA	D299Y	0.35
UCEC	chr19	40810739	3'Flank	novel		0.28
UCEC	chr19	40801098	Missense_Mutation	novel	R176C	0.37
UCEC	chr19	40808820	3'Flank	novel		0.35
UCEC	chr19	40800519	5'UTR	novel		0.3

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
KIRP	DEL	0.0451	0.054726
READ	DEL	0.0545	0.23023
UCS	DEL	0.1607	0.12448

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0001	Kaplan-Meier Survival Analysis
ACC	0.014	Kaplan-Meier Survival Analysis
UCS	0.013	Kaplan-Meier Survival Analysis
HNSC	0.01	Kaplan-Meier Survival Analysis
SKCM	0.0073	Kaplan-Meier Survival Analysis
BRCA	0.047	Kaplan-Meier Survival Analysis
PAAD	0.00075	Kaplan-Meier Survival Analysis
PCPG	0.03	Kaplan-Meier Survival Analysis
CESC	0.0019	Kaplan-Meier Survival Analysis
LIHC	0.02	Kaplan-Meier Survival Analysis
LGG	0.0001	Kaplan-Meier Survival Analysis
UVM	0.034	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBDs

Literatures

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

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Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742