Hs00719789_cn

• Gene Symbol: EGLN2
• Assay Reference Genome Location: Chr.19:40807957 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 112398
• Gene Name: egl-9 family hypoxia inducible factor 2
• Gene Aliases: EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1
• Location: Chr.19:40799143-40808441 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EGLN2	NM_053046.3	6	1761	NP_444274.1
	NM_080732.3	6	1671	NP_542770.2
	AJ310544.1	5	1613	CAC42510.1
	AK025396.1	2	192
	AK026863.1	3	916
	AK074408.1	6	1600
	AK098182.1	5	2345
	AL133009.1	3	3419	CAB61353.1
	AL832506.1	6	1627
	AY040565.1	5	1605	AAK82943.1
	BC001723.1	6	1574	AAH01723.1
	BC036051.1	6	1675	AAH36051.1

Target Gene Details

• Entrez Gene ID: 100529264
• Gene Name: RAB4B-EGLN2 readthrough (NMD candidate)
• Gene Aliases: RERT-lncRNA
• Location: Chr.19:40778219-40808441 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB4B-EGLN2	NR_037791.1	12	2365
	AK291385.1	12	2313

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv521459	Chr.19:40807297 - 40827379 on Build GRCh38	Loss	EGLN2 RAB4B-EGLN2 CYP2T1P
nsv833832	Chr.19:40754458 - 40828692 on Build GRCh38	Loss	EGLN2 RAB4B-EGLN2 MIA CYP2T1P MIA-RAB4B SNRPA RAB4B
nsv1066637	Chr.19:40803306 - 41091991 on Build GRCh38	Gain	EGLN2 CYP2G1P CYP2B6 RAB4B-EGLN2 CYP2T1P CYP2A7P1 CYP2A7 CYP2B7P CYP2A13 CYP2A6
esv2758762	Chr.19:40785722 - 41040163 on Build GRCh38	Gain+Loss	EGLN2 CYP2G1P CYP2B6 RAB4B-EGLN2 CYP2T1P MIA-RAB4B CYP2A7P1 CYP2A7 RAB4B CYP2B7P CYP2A6

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cell growth
response to hypoxia
peptidyl-proline hydroxylation to 4-hydroxy-L-proline
intracellular estrogen receptor signaling pathway
regulation of neuron apoptotic process
cell redox homeostasis
positive regulation of protein catabolic process
oxidation-reduction process
regulation of transcription from RNA polymerase II promoter in response to hypoxia

Function(s)

protein binding
ferrous iron binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
oxygen sensor activity
L-ascorbic acid binding
peptidyl-proline 4-dioxygenase activity