EGLN3 egl-9 family hypoxia inducible factor 3
Gene ID: 112399, updated on 14-Nov-2024Gene type: protein coding
Also known as: PHD3; HIFPH3; HIFP4H3
- See all available tests in GTR for this gene
- Go to complete Gene record for EGLN3
- Go to Variation Viewer for EGLN3 variants
Summary
Enables peptidyl-proline 4-dioxygenase activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; protein hydroxylation; and response to hypoxia. Located in cytosol and nucleus. Implicated in renal cell carcinoma. Biomarker of clear cell renal cell carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Genomic context
- Location:
- 14q13.1
- Sequence:
- Chromosome: 14; NC_000014.9 (33924227..33951074, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EGLN3 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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