Annotation Details for EGLN2

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Basic Information Top

Gene Symbol:	EGLN2 ( DKFZp434E026,EIT6,HIFPH1,HPH-3,PHD1 )
Gene Full Name:	egl nine homolog 2 (C. elegans)
Band:	19q13.2
Quick Links	Entrez ID:112398; OMIM: 606424; Uniprot ID:EGLN2_HUMAN; ENSEMBL ID: ENSG00000171570; HGNC ID: 14660
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:7 results
Biological Process:9 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005634	IDA	-	nucleus	11850811
GO:0005654	IDA	-	nucleoplasm	-
GO:0005654	TAS	-	nucleoplasm	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0005515	IPI	-	protein binding	16511565
GO:0008198	NAS	-	ferrous iron binding	12039559
GO:0016706	IDA	-	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
GO:0019826	IDA	-	oxygen sensor activity	11595184
GO:0031418	IEA	-	L-ascorbic acid binding	-
GO:0031545	EXP	-	peptidyl-proline 4-dioxygenase activity	12615973
GO:0031545	IDA	-	peptidyl-proline 4-dioxygenase activity	11598268

GO ID	Evidence	Qualifier	GO_term	References
GO:0001558	NAS	-	regulation of cell growth	11850811
GO:0001666	IDA	-	response to hypoxia	11595184
GO:0018401	IDA	-	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	11598268
GO:0030520	NAS	-	intracellular estrogen receptor signaling pathway	11850811
GO:0043523	IMP	-	regulation of neuron apoptotic process	19587290
GO:0045454	IDA	-	cell redox homeostasis	11595184
GO:0045732	IDA	-	positive regulation of protein catabolic process	11595184
GO:0055114	IEA	-	oxidation-reduction process	-
GO:0061418	TAS	-	regulation of transcription from RNA polymerase II promoter in response to hypoxia	-

Protein-Protein Interaction

BioGRID:4 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
EGLN2	HIF1A	125184	18264140	Reconstituted Complex
EGLN2	HIF1A	109338	18264140	Reconstituted Complex
EGLN2	POLR2A	111426	18285459	Affinity Capture-Western
EGLN2	POLR2A	125184	18285459	Affinity Capture-Western

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1932287
Data Attributes: MGI curated and HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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