Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112399
Gene name Gene Name - the full gene name approved by the HGNC.
Egl-9 family hypoxia inducible factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EGLN3
Synonyms (NCBI Gene) Gene synonyms aliases
HIFP4H3, HIFPH3, PHD3
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003110 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003110 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT006289 hsa-miR-20a-5p Luciferase reporter assay, Western blot 22182733
MIRT006289 hsa-miR-20a-5p Luciferase reporter assay, Western blot 22182733
MIRT006289 hsa-miR-20a-5p Luciferase reporter assay, Western blot 22182733
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 15156561
STAT6 Unknown 18342537
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEP 20978507
GO:0005515 Function Protein binding IPI 15721254, 16511565, 17353276, 19584355, 20849813, 21575608, 21620138, 21988832, 22286099, 25416956, 26972000, 31515488, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 12615973
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606426 14661 ENSG00000129521
Protein
UniProt ID Q9H6Z9
Protein name Prolyl hydroxylase EGLN3 (EC 1.14.11.-) (Egl nine homolog 3) (EC 1.14.11.29) (HPH-1) (Hypoxia-inducible factor prolyl hydroxylase 3) (HIF-PH3) (HIF-prolyl hydroxylase 3) (HPH-3) (Prolyl hydroxylase domain-containing protein 3) (PHD3)
Protein function Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:20978507, PubMed:21483450, PubMed:21575608, PubMed:21620138, PubMed:22797300). Target proteins are
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13640 2OG-FeII_Oxy_3 120 213 2OG-Fe(II) oxygenase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and skeletal muscle. Also expressed
Sequence
MPLGHIMRLDLEKIALEYIVPCLHEVGFCYLDNFLGEVVGDCVLERVKQLHCTGALRDGQ
LAGPRAGVSKRHLRGDQITWIGGNEEGCEAISFLLSLIDRLVLYCGSRLGKYYVKERSKA
MVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEP
IFDRLLFFWSDRRNPHEVQPSYATRYAMTVWYF
DAEERAEAKKKFRNLTRKTESALTED
Sequence length 239
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac disease GWAS
Mental Depression Mental Depression GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36147635, 37842058, 40102484
Adenoma Oxyphilic Associate 33118406
Alopecia Associate 35862273
Altitude Sickness Inhibit 18954447
Breast Neoplasms Associate 21291529, 26372732
Carcinogenesis Associate 33606679
Carcinogenesis Inhibit 37814811
Carcinoma Hepatocellular Associate 24452951, 28099905, 35549979, 36746728
Carcinoma Non Small Cell Lung Associate 25081707
Carcinoma Pancreatic Ductal Associate 25542265