EGLN2

EGLN2
Identifiers
Aliases	EGLN2, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1, egl-9 family hypoxia inducible factor 2, EIT-6
External IDs	OMIM: 606424; MGI: 1932287; HomoloGene: 14204; GeneCards: EGLN2; OMA:EGLN2 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.2 Start 40,798,996 bp[1] End 40,808,434 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A3|7 15.83 cM Start 26,858,083 bp[2] End 26,866,227 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis blood spleen right lung apex of heart upper lobe of left lung mucosa of transverse colon primary visual cortex putamen Top expressed in seminiferous tubule entorhinal cortex Ileal epithelium perirhinal cortex choroid plexus of fourth ventricle CA3 field spermatid muscle of thigh Paneth cell crypt of lieberkuhn of small intestine More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 2-oxoglutarate-dependent dioxygenase activity L-ascorbic acid binding iron ion binding dioxygenase activity metal ion binding protein binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity ferrous iron binding oxygen gasoreceptor activity peptidyl-proline 4-dioxygenase activity Cellular component nucleoplasm nucleus Biological process response to hypoxia positive regulation of protein catabolic process regulation of neuron apoptotic process peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell redox homeostasis regulation of cell growth regulation of transcription from RNA polymerase II promoter in response to hypoxia intracellular estrogen receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 112398 112406 Ensembl ENSG00000269858 ENSMUSG00000058709 UniProt Q96KS0 Q91YE2 RefSeq (mRNA) NM_080732 NM_017555 NM_053046 NM_053208 NM_001357767 RefSeq (protein) NP_444274 NP_542770 NP_444438 NP_001344696 Location (UCSC) Chr 19: 40.8 – 40.81 Mb Chr 7: 26.86 – 26.87 Mb PubMed search [3] [4]
Wikidata
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Egl nine homolog 2 is a protein that in humans is encoded by the EGLN2 gene.^[5] ELGN2 is an alpha-ketoglutarate-dependent hydroxylase, a superfamily of non-haem iron-containing proteins.

The hypoxia inducible factor (HIF) is a transcriptional complex which is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degradation by prolyl hydroxylation. This gene encodes an enzyme responsible for this posttranslational modification. Multiple alternatively spliced variants, encoding the same protein, have been identified.^[5]