Gene: RAB4B-EGLN2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs61750953 in RAB4B-EGLN2;EGLN2 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs61750953 in RAB4B-EGLN2;EGLN2 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.