EGLN2
Prolyl hydroxylase EGLN2
Also known as: EGLN2_HUMAN, HIFPH1, PHD1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96KS0
- Gene
- EGLN2
- Ensembl
- ENSG00000269858
- Chromosome
- 19
- Canonical length
- 407 aa
- Protein class
- Enzymes, FDA approved drug targets, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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 post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
Canonical amino-acid sequenceUniProt
407 residues, UniProt reviewed canonical sequence.
>Q96KS0|EGLN2
1 MDSPCQPQPL SQALPQLPGS SSEPLEPEPG RARMGVESYL PCPLLPSYHC PGVPSEASAG
61 SGTPRATATS TTASPLRDGF GGQDGGELRP LQSEGAAALV TKGCQRLAAQ GARPEAPKRK
121 WAEDGGDAPS PSKRPWARQE NQEAEREGGM SCSCSSGSGE ASAGLMEEAL PSAPERLALD
181 YIVPCMRYYG ICVKDSFLGA ALGGRVLAEV EALKRGGRLR DGQLVSQRAI PPRSIRGDQI
241 AWVEGHEPGC RSIGALMAHV DAVIRHCAGR LGSYVINGRT KAMVACYPGN GLGYVRHVDN
301 PHGDGRCITC IYYLNQNWDV KVHGGLLQIF PEGRPVVANI EPLFDRLLIF WSDRRNPHEV
361 KPAYATRYAI TVWYFDAKER AAAKDKYQLA SGQKGVQVPV SQPPTPTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EGLN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 224 nTPM
Expression across tissuesHPA
Tissue
- testis: 224 nTPM
- spleen: 113 nTPM
- basal ganglia: 75 nTPM
- hippocampal formation: 73 nTPM
- lung: 72 nTPM
- choroid plexus: 70 nTPM
Single-cell type
- platelets: 2.8 nCPM
- late primary spermatocytes: 2.1 nCPM
- early spermatids: 1 nCPM
- lacrimal acinar cells: 0.9 nCPM
- late spermatids: 0.9 nCPM
- microglia: 0.8 nCPM
Immune cell
- neutrophil: 263 nTPM
- eosinophil: 191 nTPM
- total PBMC: 110 nTPM
- naive CD4 T-cell: 106 nTPM
- memory CD4 T-cell: 102 nTPM
- T-reg: 100 nTPM
Brain region
- cerebral cortex: 105 nTPM
- hippocampal formation: 97 nTPM
- thalamus: 93 nTPM
- basal ganglia: 89 nTPM
- midbrain: 89 nTPM
- amygdala: 89 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0.72
- gnomAD missense Z
- 1.45
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell redox homeostasis
- cellular response to hypoxia
- estrogen receptor signaling pathway
- peptidyl-proline hydroxylation to 4-hydroxy-L-proline
- positive regulation of protein catabolic process
- regulation of cell growth
- regulation of neuron apoptotic process
- response to hypoxia
Molecular functions
- 2-oxoglutarate-dependent dioxygenase activity
- ferrous iron binding
- hypoxia-inducible factor-proline dioxygenase activity
- L-ascorbic acid binding
- oxygen sensor activity
- peptidyl-proline 4-dioxygenase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EGLN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EGLN2 as an antibody target. Whether an autoantibody or antibody against EGLN2 could matter depends on whether native EGLN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EGLN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EGLN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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