Gene: EGLN2

Alternate names for this Gene: EIT-6|EIT6|HIF-PH1|HIFPH1|HPH-1|HPH-3|PHD1

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: egl-9 family hypoxia inducible factor 2

Type of Gene: protein-coding

Gene: RAB4B-EGLN2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs184088518 in EGLN2;RAB4B-EGLN2 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs184088518 in EGLN2;RAB4B-EGLN2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3733829 in EGLN2;RAB4B-EGLN2 gene and Smoking PMID 20418890 2010 Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

rs3733829 in EGLN2;RAB4B-EGLN2 gene and Smoking Behaviors PMID 22832964 2012 Genome-wide meta-analyses of smoking behaviors in African Americans.

PMID 20418890 2010 Genome-wide meta-analyses identify multiple loci associated with smoking behavior.