EGLN2 egl-9 family hypoxia inducible factor 2
Gene ID: 112398, updated on 28-Oct-2024Gene type: protein coding
Also known as: EIT6; PHD1; EIT-6; HPH-1; HPH-3; HIFPH1; HIF-PH1
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- Go to complete Gene record for EGLN2
- Go to Variation Viewer for EGLN2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. GeneReviews: Not available | |
| Genome-wide meta-analyses identify multiple loci associated with smoking behavior. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (40799191..40808434)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EGLN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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