Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54583
Gene name	Egl-9 family hypoxia inducible factor 1
Gene symbol	EGLN1
Synonyms (NCBI Gene)	C1orf12ECYT3HALAHHIF-PH2HIFPH2HPH-2HPH2PHD2SM20ZMYND6
Chromosome	1
Chromosome location	1q42.2
Summary	The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein func

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SNP ID	Visualize variation	Clinical significance	Consequence
rs12097901	C>G	Affects, benign	Missense variant, coding sequence variant
rs80358193	G>C	Pathogenic	Missense variant, coding sequence variant
rs119476044	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs119476045	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs186996510	G>C	Affects, benign, likely-benign	Coding sequence variant, missense variant
rs1018129986	G>T	Pathogenic	Coding sequence variant, stop gained

328

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016815	hsa-miR-335-5p	Microarray	18185580
MIRT038498	hsa-miR-296-3p	CLASH	23622248
MIRT544371	hsa-miR-548n	PAR-CLIP	21572407
MIRT544370	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544369	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544368	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT544367	hsa-miR-3129-3p	PAR-CLIP	21572407
MIRT544366	hsa-miR-5583-5p	PAR-CLIP	21572407
MIRT544365	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT544364	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT544363	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT544362	hsa-miR-134-5p	PAR-CLIP	21572407
MIRT544361	hsa-miR-3118	PAR-CLIP	21572407
MIRT544360	hsa-miR-943	PAR-CLIP	21572407
MIRT544359	hsa-miR-5692a	PAR-CLIP	21572407
MIRT544358	hsa-miR-3646	PAR-CLIP	21572407
MIRT544357	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT544356	hsa-miR-224-3p	PAR-CLIP	21572407
MIRT544355	hsa-miR-522-3p	PAR-CLIP	21572407
MIRT544354	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT544352	hsa-miR-4790-3p	PAR-CLIP	21572407
MIRT544353	hsa-miR-3201	PAR-CLIP	21572407
MIRT544351	hsa-miR-4791	PAR-CLIP	21572407
MIRT544350	hsa-miR-4529-5p	PAR-CLIP	21572407
MIRT544349	hsa-miR-3187-3p	PAR-CLIP	21572407
MIRT544371	hsa-miR-548n	PAR-CLIP	21572407
MIRT544370	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT544369	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT544368	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT544367	hsa-miR-3129-3p	PAR-CLIP	21572407
MIRT544366	hsa-miR-5583-5p	PAR-CLIP	21572407
MIRT544365	hsa-miR-452-5p	PAR-CLIP	21572407
MIRT544364	hsa-miR-4676-3p	PAR-CLIP	21572407
MIRT544363	hsa-miR-892c-3p	PAR-CLIP	21572407
MIRT544362	hsa-miR-134-5p	PAR-CLIP	21572407
MIRT544361	hsa-miR-3118	PAR-CLIP	21572407
MIRT544360	hsa-miR-943	PAR-CLIP	21572407
MIRT544359	hsa-miR-5692a	PAR-CLIP	21572407
MIRT544358	hsa-miR-3646	PAR-CLIP	21572407
MIRT544357	hsa-miR-4694-3p	PAR-CLIP	21572407
MIRT544356	hsa-miR-224-3p	PAR-CLIP	21572407
MIRT544355	hsa-miR-522-3p	PAR-CLIP	21572407
MIRT544354	hsa-miR-203a-3p	PAR-CLIP	21572407
MIRT544352	hsa-miR-4790-3p	PAR-CLIP	21572407
MIRT544353	hsa-miR-3201	PAR-CLIP	21572407
MIRT544351	hsa-miR-4791	PAR-CLIP	21572407
MIRT544350	hsa-miR-4529-5p	PAR-CLIP	21572407
MIRT544349	hsa-miR-3187-3p	PAR-CLIP	21572407
MIRT954782	hsa-miR-1231	CLIP-seq
MIRT954783	hsa-miR-127-5p	CLIP-seq
MIRT954784	hsa-miR-2052	CLIP-seq
MIRT954785	hsa-miR-31	CLIP-seq
MIRT954786	hsa-miR-3120-5p	CLIP-seq
MIRT954787	hsa-miR-3128	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT954789	hsa-miR-3159	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT954791	hsa-miR-3655	CLIP-seq
MIRT954792	hsa-miR-3662	CLIP-seq
MIRT954793	hsa-miR-421	CLIP-seq
MIRT954794	hsa-miR-4263	CLIP-seq
MIRT954795	hsa-miR-4310	CLIP-seq
MIRT954796	hsa-miR-4421	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT954798	hsa-miR-4477a	CLIP-seq
MIRT954799	hsa-miR-450b-5p	CLIP-seq
MIRT954800	hsa-miR-4652-3p	CLIP-seq
MIRT954801	hsa-miR-4709-5p	CLIP-seq
MIRT954802	hsa-miR-4717-5p	CLIP-seq
MIRT954803	hsa-miR-4720-5p	CLIP-seq
MIRT954804	hsa-miR-4789-3p	CLIP-seq
MIRT954805	hsa-miR-4799-3p	CLIP-seq
MIRT954806	hsa-miR-4800-3p	CLIP-seq
MIRT954807	hsa-miR-507	CLIP-seq
MIRT954808	hsa-miR-557	CLIP-seq
MIRT954809	hsa-miR-576-5p	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT954811	hsa-miR-624	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT1548214	hsa-miR-3616-5p	CLIP-seq
MIRT1548215	hsa-miR-3647-5p	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT1548218	hsa-miR-3929	CLIP-seq
MIRT1548219	hsa-miR-4259	CLIP-seq
MIRT1548220	hsa-miR-4419b	CLIP-seq
MIRT1548221	hsa-miR-4425	CLIP-seq
MIRT1548222	hsa-miR-4478	CLIP-seq
MIRT1548223	hsa-miR-4670-3p	CLIP-seq
MIRT1548224	hsa-miR-4705	CLIP-seq
MIRT1548225	hsa-miR-4715-5p	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT1548227	hsa-miR-485-5p	CLIP-seq
MIRT1548228	hsa-miR-573	CLIP-seq
MIRT1982771	hsa-miR-1208	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT1982772	hsa-miR-1299	CLIP-seq
MIRT1982773	hsa-miR-1305	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT1982775	hsa-miR-203	CLIP-seq
MIRT1982776	hsa-miR-3182	CLIP-seq
MIRT1982777	hsa-miR-3192	CLIP-seq
MIRT1982778	hsa-miR-3202	CLIP-seq
MIRT1982779	hsa-miR-34c-3p	CLIP-seq
MIRT1982780	hsa-miR-3647-3p	CLIP-seq
MIRT1982781	hsa-miR-3671	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT1982782	hsa-miR-382	CLIP-seq
MIRT1548218	hsa-miR-3929	CLIP-seq
MIRT1548219	hsa-miR-4259	CLIP-seq
MIRT1982783	hsa-miR-4274	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT1548220	hsa-miR-4419b	CLIP-seq
MIRT1548221	hsa-miR-4425	CLIP-seq
MIRT1982785	hsa-miR-4474-3p	CLIP-seq
MIRT1548222	hsa-miR-4478	CLIP-seq
MIRT1982786	hsa-miR-4533	CLIP-seq
MIRT954800	hsa-miR-4652-3p	CLIP-seq
MIRT1982787	hsa-miR-4687-3p	CLIP-seq
MIRT1982788	hsa-miR-4698	CLIP-seq
MIRT1548225	hsa-miR-4715-5p	CLIP-seq
MIRT1982789	hsa-miR-4718	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT1982790	hsa-miR-4731-3p	CLIP-seq
MIRT1982791	hsa-miR-4801	CLIP-seq
MIRT1982792	hsa-miR-4803	CLIP-seq
MIRT1548227	hsa-miR-485-5p	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT1982794	hsa-miR-501-3p	CLIP-seq
MIRT1982795	hsa-miR-502-3p	CLIP-seq
MIRT1982796	hsa-miR-607	CLIP-seq
MIRT1982797	hsa-miR-633	CLIP-seq
MIRT1982798	hsa-miR-658	CLIP-seq
MIRT1982799	hsa-miR-767-5p	CLIP-seq
MIRT1982800	hsa-miR-875-3p	CLIP-seq
MIRT2217662	hsa-miR-1183	CLIP-seq
MIRT2217663	hsa-miR-1184	CLIP-seq
MIRT2217664	hsa-miR-1205	CLIP-seq
MIRT954782	hsa-miR-1231	CLIP-seq
MIRT2217665	hsa-miR-1271	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT2217666	hsa-miR-182	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT2217667	hsa-miR-2054	CLIP-seq
MIRT2217668	hsa-miR-224	CLIP-seq
MIRT2217669	hsa-miR-23a	CLIP-seq
MIRT2217670	hsa-miR-23b	CLIP-seq
MIRT2217671	hsa-miR-23c	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT2217672	hsa-miR-3158-5p	CLIP-seq
MIRT1982776	hsa-miR-3182	CLIP-seq
MIRT1982777	hsa-miR-3192	CLIP-seq
MIRT2217673	hsa-miR-346	CLIP-seq
MIRT2217674	hsa-miR-3609	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT2217675	hsa-miR-3653	CLIP-seq
MIRT954791	hsa-miR-3655	CLIP-seq
MIRT2217676	hsa-miR-3680	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT2217677	hsa-miR-370	CLIP-seq
MIRT2217678	hsa-miR-383	CLIP-seq
MIRT2217679	hsa-miR-3920	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT2217680	hsa-miR-4282	CLIP-seq
MIRT2217681	hsa-miR-4288	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT954798	hsa-miR-4477a	CLIP-seq
MIRT2217682	hsa-miR-4504	CLIP-seq
MIRT2217683	hsa-miR-4528	CLIP-seq
MIRT2217684	hsa-miR-4642	CLIP-seq
MIRT954800	hsa-miR-4652-3p	CLIP-seq
MIRT1982788	hsa-miR-4698	CLIP-seq
MIRT954803	hsa-miR-4720-5p	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT2217685	hsa-miR-4732-5p	CLIP-seq
MIRT2217686	hsa-miR-4796-5p	CLIP-seq
MIRT2217687	hsa-miR-4798-3p	CLIP-seq
MIRT954805	hsa-miR-4799-3p	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT2217688	hsa-miR-520d-5p	CLIP-seq
MIRT2217689	hsa-miR-524-5p	CLIP-seq
MIRT2217690	hsa-miR-548ah	CLIP-seq
MIRT2217691	hsa-miR-552	CLIP-seq
MIRT2217692	hsa-miR-576-3p	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT2217693	hsa-miR-632	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT1982798	hsa-miR-658	CLIP-seq
MIRT2217694	hsa-miR-96	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT2448716	hsa-miR-4684-5p	CLIP-seq
MIRT2521663	hsa-miR-1246	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT2521664	hsa-miR-1298	CLIP-seq
MIRT2521665	hsa-miR-150	CLIP-seq
MIRT2521666	hsa-miR-155	CLIP-seq
MIRT2521667	hsa-miR-181a	CLIP-seq
MIRT2521668	hsa-miR-181b	CLIP-seq
MIRT2521669	hsa-miR-181c	CLIP-seq
MIRT2521670	hsa-miR-181d	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT1982775	hsa-miR-203	CLIP-seq
MIRT954784	hsa-miR-2052	CLIP-seq
MIRT2521671	hsa-miR-219-1-3p	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT2521672	hsa-miR-3140-3p	CLIP-seq
MIRT2521673	hsa-miR-3163	CLIP-seq
MIRT2521674	hsa-miR-3200-5p	CLIP-seq
MIRT1982779	hsa-miR-34c-3p	CLIP-seq
MIRT2217674	hsa-miR-3609	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT2217675	hsa-miR-3653	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT2217679	hsa-miR-3920	CLIP-seq
MIRT2521675	hsa-miR-410	CLIP-seq
MIRT2521676	hsa-miR-4262	CLIP-seq
MIRT954794	hsa-miR-4263	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT2217680	hsa-miR-4282	CLIP-seq
MIRT2521677	hsa-miR-4283	CLIP-seq
MIRT2521678	hsa-miR-4464	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT1982785	hsa-miR-4474-3p	CLIP-seq
MIRT2521679	hsa-miR-4496	CLIP-seq
MIRT954799	hsa-miR-450b-5p	CLIP-seq
MIRT2521680	hsa-miR-4639-5p	CLIP-seq
MIRT2448716	hsa-miR-4684-5p	CLIP-seq
MIRT1982787	hsa-miR-4687-3p	CLIP-seq
MIRT1982789	hsa-miR-4718	CLIP-seq
MIRT2521681	hsa-miR-4724-5p	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT2521682	hsa-miR-4748	CLIP-seq
MIRT2521683	hsa-miR-4760-3p	CLIP-seq
MIRT2521684	hsa-miR-4793-5p	CLIP-seq
MIRT954806	hsa-miR-4800-3p	CLIP-seq
MIRT1982792	hsa-miR-4803	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT2521685	hsa-miR-494	CLIP-seq
MIRT2521686	hsa-miR-495	CLIP-seq
MIRT954807	hsa-miR-507	CLIP-seq
MIRT2521687	hsa-miR-5096	CLIP-seq
MIRT2521688	hsa-miR-513b	CLIP-seq
MIRT2521689	hsa-miR-514	CLIP-seq
MIRT2521690	hsa-miR-514b-3p	CLIP-seq
MIRT2521691	hsa-miR-522	CLIP-seq
MIRT2521692	hsa-miR-526b	CLIP-seq
MIRT2521693	hsa-miR-543	CLIP-seq
MIRT2217690	hsa-miR-548ah	CLIP-seq
MIRT2521694	hsa-miR-549	CLIP-seq
MIRT2217691	hsa-miR-552	CLIP-seq
MIRT954808	hsa-miR-557	CLIP-seq
MIRT2521695	hsa-miR-571	CLIP-seq
MIRT954809	hsa-miR-576-5p	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT2521696	hsa-miR-614	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT2521697	hsa-miR-663b	CLIP-seq
MIRT2521698	hsa-miR-664	CLIP-seq
MIRT2521663	hsa-miR-1246	CLIP-seq
MIRT1548213	hsa-miR-1273e	CLIP-seq
MIRT2679844	hsa-miR-1343	CLIP-seq
MIRT2521665	hsa-miR-150	CLIP-seq
MIRT2521666	hsa-miR-155	CLIP-seq
MIRT1982774	hsa-miR-1976	CLIP-seq
MIRT1982775	hsa-miR-203	CLIP-seq
MIRT954784	hsa-miR-2052	CLIP-seq
MIRT2521671	hsa-miR-219-1-3p	CLIP-seq
MIRT954788	hsa-miR-3135	CLIP-seq
MIRT2521672	hsa-miR-3140-3p	CLIP-seq
MIRT2679845	hsa-miR-3147	CLIP-seq
MIRT2521673	hsa-miR-3163	CLIP-seq
MIRT2521674	hsa-miR-3200-5p	CLIP-seq
MIRT1982779	hsa-miR-34c-3p	CLIP-seq
MIRT2217674	hsa-miR-3609	CLIP-seq
MIRT2679846	hsa-miR-3613-3p	CLIP-seq
MIRT954790	hsa-miR-3617	CLIP-seq
MIRT1548216	hsa-miR-3689a-3p	CLIP-seq
MIRT1548217	hsa-miR-3689c	CLIP-seq
MIRT2679847	hsa-miR-371-5p	CLIP-seq
MIRT2679848	hsa-miR-371b-5p	CLIP-seq
MIRT2217679	hsa-miR-3920	CLIP-seq
MIRT2679849	hsa-miR-3940-5p	CLIP-seq
MIRT2521675	hsa-miR-410	CLIP-seq
MIRT1982784	hsa-miR-4279	CLIP-seq
MIRT2217680	hsa-miR-4282	CLIP-seq
MIRT2521677	hsa-miR-4283	CLIP-seq
MIRT2521678	hsa-miR-4464	CLIP-seq
MIRT954797	hsa-miR-4470	CLIP-seq
MIRT1982785	hsa-miR-4474-3p	CLIP-seq
MIRT2521679	hsa-miR-4496	CLIP-seq
MIRT2679850	hsa-miR-4507	CLIP-seq
MIRT954799	hsa-miR-450b-5p	CLIP-seq
MIRT2679851	hsa-miR-451b	CLIP-seq
MIRT2679852	hsa-miR-4637	CLIP-seq
MIRT2521680	hsa-miR-4639-5p	CLIP-seq
MIRT2448716	hsa-miR-4684-5p	CLIP-seq
MIRT1982787	hsa-miR-4687-3p	CLIP-seq
MIRT2679853	hsa-miR-4696	CLIP-seq
MIRT1982789	hsa-miR-4718	CLIP-seq
MIRT1548226	hsa-miR-4728-5p	CLIP-seq
MIRT2521682	hsa-miR-4748	CLIP-seq
MIRT2521683	hsa-miR-4760-3p	CLIP-seq
MIRT2521684	hsa-miR-4793-5p	CLIP-seq
MIRT954806	hsa-miR-4800-3p	CLIP-seq
MIRT1982792	hsa-miR-4803	CLIP-seq
MIRT1982793	hsa-miR-490-3p	CLIP-seq
MIRT2521685	hsa-miR-494	CLIP-seq
MIRT2521686	hsa-miR-495	CLIP-seq
MIRT954807	hsa-miR-507	CLIP-seq
MIRT2521687	hsa-miR-5096	CLIP-seq
MIRT2521688	hsa-miR-513b	CLIP-seq
MIRT2521689	hsa-miR-514	CLIP-seq
MIRT2521690	hsa-miR-514b-3p	CLIP-seq
MIRT2521691	hsa-miR-522	CLIP-seq
MIRT2521692	hsa-miR-526b	CLIP-seq
MIRT2217690	hsa-miR-548ah	CLIP-seq
MIRT2521694	hsa-miR-549	CLIP-seq
MIRT954808	hsa-miR-557	CLIP-seq
MIRT2521695	hsa-miR-571	CLIP-seq
MIRT954810	hsa-miR-578	CLIP-seq
MIRT2521696	hsa-miR-614	CLIP-seq
MIRT954812	hsa-miR-641	CLIP-seq
MIRT2521697	hsa-miR-663b	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
ETV4	Unknown	22075993
HIF1A	Unknown	12839937;22075993
SIRT1	Repression	22245592

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	16956324
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15721254, 16511565, 17353276, 19208626, 20840591, 22286099, 24169621, 24681946, 25974097, 30487161
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12615973
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS	8606489
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	28594552
GO:0008270	Function	Zinc ion binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016706	Function	2-oxoglutarate-dependent dioxygenase activity	IDA	22955912
GO:0019899	Function	Enzyme binding	ISS
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0031543	Function	Peptidyl-proline dioxygenase activity	TAS	16956324
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IBA
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IEA
GO:0032364	Process	Intracellular oxygen homeostasis	IDA	16956324
GO:0043523	Process	Regulation of neuron apoptotic process	IBA
GO:0045765	Process	Regulation of angiogenesis	IEA
GO:0045765	Process	Regulation of angiogenesis	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060711	Process	Labyrinthine layer development	IEA
GO:0071456	Process	Cellular response to hypoxia	IBA
GO:0071731	Process	Response to nitric oxide	IDA	21601578
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099159	Process	Regulation of modification of postsynaptic structure	IEA
GO:0140252	Process	Regulation protein catabolic process at postsynapse	IEA
GO:0160082	Function	Hypoxia-inducible factor-proline dioxygenase activity	IDA	11598268
GO:0160082	Function	Hypoxia-inducible factor-proline dioxygenase activity	IEA
GO:1902072	Process	Negative regulation of hypoxia-inducible factor-1alpha signaling pathway	IDA	16956324

MIM	HGNC	e!Ensembl
606425	1232	ENSG00000135766

Q9GZT9

Protein name

Egl nine homolog 1 (EC 1.14.11.29) (Hypoxia-inducible factor prolyl hydroxylase 2) (HIF-PH2) (HIF-prolyl hydroxylase 2) (HPH-2) (Prolyl hydroxylase domain-containing protein 2) (PHD2) (SM-20)

Protein function

Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degrad

PDB

2G19 , 2G1M , 2HBT , 2HBU , 2Y33 , 2Y34 , 3HQR , 3HQU , 3OUH , 3OUI , 3OUJ , 4BQW , 4BQX , 4BQY , 4JZR , 4KBZ , 4UWD , 5A3U , 5L9B , 5L9R , 5L9V , 5LA9 , 5LAS , 5LAT , 5LB6 , 5LBB , 5LBC , 5LBE , 5LBF , 5OX5 , 5OX6 , 5V18 , 6NMQ , 6QGV , 6ST3 , 6YVT , 6YVW , 6YVX , 6YVZ , 6YW0 , 6YW1 , 6YW2 , 6YW3 , 6YW4 , 6ZBN , 6ZBO , 7Q5V , 7Q5X , 7UJV , 7UMP , 8J1K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01753	zf-MYND	21 → 58	MYND finger	Domain
PF13640	2OG-FeII_Oxy_3	298 → 391	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: According to PubMed:11056053, widely expressed with highest levels in skeletal muscle and heart, moderate levels in pancreas, brain (dopaminergic neurons of adult and fetal substantia nigra) and kidney, and lower levels in lung and liv

Sequence

MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQG
SEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADP
AAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLR
PNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQL
VSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV
ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKF
DRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDS
VGKDVF

Sequence length

426

Interactions

View interactions

	KEGG		Reactome
	HIF-1 signaling pathway Pathways in cancer Renal cell carcinoma		Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

525

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Erythrocytosis, familial, 3	Pathogenic	rs2102898170, rs119476044, rs119476045, rs1656591590, rs2527358629, rs1018129986	RCV001353370 RCV000004604 RCV000004605 RCV003611054 RCV003612116 RCV000804652

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs763045676	RCV005899459
EGLN1-related disorder	Likely benign; Benign	rs574288484, rs186996510, rs555121182, rs2527360867, rs1448568741, rs541795999	RCV003933759 RCV003907786 RCV003910082 RCV003957354 RCV003976341 RCV003965647 RCV003920386
Familial erythrocytosis	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs574848765, rs185322052, rs541569859, rs201012894, rs886046105, rs145140638, rs886046126, rs886046099, rs564384828, rs576306593, rs371155853, rs568496391, rs886046098, rs886046108, rs577920148, rs111995599, rs149920332 View all (2 more)	RCV000277536 RCV000285631 RCV000346291 RCV000391890 RCV000278948 RCV000326168 RCV000380710 RCV000353154 RCV000299412 RCV000348167 RCV000327516 RCV000275637 RCV000314643 RCV000390710 RCV000270008 RCV000265705 RCV000332015 RCV000294456
Hemoglobin, high altitude adaptation	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs891489163, rs75538505, rs761497751, rs1399925375, rs531081279, rs758090254, rs555121182, rs551207815, rs113401862, rs1408448213, rs376628693	RCV005005847 RCV005006279 RCV002503600 RCV005008583 RCV005008205 RCV005012859 RCV002494922 RCV005010353 RCV000763841 RCV005012471 RCV005021357

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Stimulate	30575913
Alopecia	Associate	35862273
Altitude Sickness	Associate	25431923, 32478477
Anemia	Associate	20973793
Arthritis	Associate	22488178
Arthritis Psoriatic	Associate	22488178
Arthritis Rheumatoid	Associate	22488178
Breast Neoplasms	Associate	28038470, 37661833
Calcinosis Cutis	Associate	36013579
Carcinogenesis	Associate	22236543, 25546659
Carcinoma Basal Cell	Associate	25181405
Carcinoma Hepatocellular	Associate	25546659, 26624507, 31852247
Carcinoma Squamous Cell	Stimulate	30575913
Cluster Headache	Associate	27659016
Colitis Ulcerative	Stimulate	40527798
Colorectal Neoplasms	Associate	22802519, 24195777
COVID 19	Associate	38291512, 39267176
Crohn Disease	Associate	40527798
Epilepsy	Associate	34588521
Erythrocytosis Familial 2	Associate	28400504
Familial cylindromatosis	Associate	25181405
Glioblastoma	Inhibit	25010988
Heart Arrest	Associate	28400504
Hemangioma Cavernous Central Nervous System	Associate	34588521
Hypoxia	Stimulate	14984367, 15104534, 32886165
Hypoxia	Associate	17114296, 21297970, 21933857, 23077544, 28036300, 28400504, 28613249, 29534684, 29625625, 35937460, 36244759, 37661833, 38287821
Hypoxia	Inhibit	18976673, 25010988
Hypoxia Brain	Stimulate	15104534
Hypoxia Brain	Associate	16782814, 22075993, 22277691, 28036300, 37661833, 38287821
Inflammatory Bowel Diseases	Stimulate	40527798
Keratoconus	Associate	32886165
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	36013579
Lung Neoplasms	Associate	28036300
Malformations of Cortical Development Group I	Associate	25231392
Myocardial Ischemia	Associate	16782814
Neoplasm Metastasis	Associate	23077544
Neoplasms	Associate	18505927, 21291529, 21887331, 23077544, 23319410, 24195777, 24694336, 25546659, 26754054, 28900510, 31852247
Neoplasms	Stimulate	22236543
Osler rendu weber syndrome 2	Associate	22952568
Osteoarthritis	Associate	22488178
Ovarian Neoplasms	Associate	30898838
Paraganglioma	Associate	21933857, 27659016
Paraganglioma Extra Adrenal	Associate	21933857
Pheochromocytoma	Associate	16098460, 23090011, 24694336, 28336782, 36013579
Polycythemia	Associate	17579185, 20007141, 21828119, 21933857, 26624507, 26754054, 27651169, 28400504, 32755251, 33534944, 37317877
Polycythemia primary familial and congenital	Associate	16407130, 16687917, 16782814, 21933857, 23090011, 37317877
Primary Graft Dysfunction	Stimulate	18727701
Prion Diseases	Associate	25231392
Prostatic Neoplasms	Associate	36629160
Pulmonary Disease Chronic Obstructive	Associate	38287821
Pulmonary Edema	Associate	20956315
Pulmonary edema of mountaineers	Associate	26436397, 27210110, 36180894
Respiratory Distress Syndrome	Associate	28613249
Retroperitoneal Neoplasms	Associate	20026900
Sarcoma	Associate	20026900
Stomach Neoplasms	Associate	22236543
Testicular Neoplasms	Associate	19147576
Uterine Cervical Neoplasms	Associate	33099935
von Hippel Lindau Disease	Associate	16407130, 21933857

EGLN1 (egl-9 family hypoxia inducible factor 1)