• Gene id: 112398

Gene Summary

• Gene Symbol: EGLN2   Gene   UCSC   Ensembl
• Aliases: EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1
• Gene name: egl-9 family hypoxia inducible factor 2
• Alternate names: egl nine homolog 2, HIF-prolyl hydroxylase 1, estrogen-induced tag 6, hypoxia-inducible factor prolyl hydroxylase 1, prolyl hydroxylase domain-containing protein 1,
• Gene location: 19q13.2 (40799190: 40808433)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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 p
• OMIM: 614016

Protein Summary

• Protein general information: Q96KS0  
  • Name: Egl nine homolog 2 (EC 1.14.11.29) (Estrogen induced tag 6) (EIT 6) (HPH 3) (Hypoxia inducible factor prolyl hydroxylase 1) (HIF PH1) (HIF prolyl hydroxylase 1) (HPH 1) (Prolyl hydroxylase domain containing protein 1) (PHD1)
  • Length: 407  
  • Mass: 43650
  • Tissue specificity: Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, inc
• Sequence:

  MDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLPCPLLPSYHCPGVPSEASAGSGTPRATATSTTASP
  LRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSPSKRPWARQENQEAEREGGM
  SCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRDGQLV
  SQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKAMVACYPGNGLGYVRHVDN
  PHGDGRCITCIYYLNQNWDVKVHGGLLQIFPEGRPVVANIEPLFDRLLIFWSDRRNPHEVKPAYATRYAITVWYF
  DAKERAAAKDKYQLASGQKGVQVPVSQPPTPT

• Structural information:
  • Protein Domains: (278..37-)
    (/note="Fe2OG-dioxygenase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00805"-)
  • Interpro: IPR005123  IPR006620  
  • Prosite: PS51471
  • PDB: 5V1B
  • PDBsum: 5V1B
  • STRING: ENSP00000469686
• Other Databases: GeneCards:  EGLN2  Malacards:  EGLN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008198	ferrous iron binding	IBA	molecular function
GO:0031543	peptidyl-proline dioxygenase activity	IBA	molecular function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IBA	biological process
GO:0031545	peptidyl-proline 4-dioxygenase activity	IBA	molecular function
GO:0071456	cellular response to hypoxia	IBA	biological process
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	biological process
GO:0031545	peptidyl-proline 4-dioxygenase activity	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0043523	regulation of neuron apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0031418	L-ascorbic acid binding	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0031545	peptidyl-proline 4-dioxygenase activity	IDA	molecular function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031545	peptidyl-proline 4-dioxygenase activity	IEA	molecular function
GO:0018401	peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045454	cell redox homeostasis	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045732	positive regulation of protein catabolic process	IDA	biological process
GO:0019826	oxygen sensor activity	IDA	molecular function
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0008198	ferrous iron binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001558	regulation of cell growth	NAS	biological process
GO:0030520	intracellular estrogen receptor signaling pathway	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04066	HIF-1 signaling pathway
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
renal cell carcinoma	PMID:20978146
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881