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EGLN2 egl-9 family hypoxia inducible factor 2 [ Homo sapiens (human) ]

Gene ID: 112398, updated on 20-Jun-2020

Summary

Official Symbol
EGLN2provided by HGNC
Official Full Name
egl-9 family hypoxia inducible factor 2provided by HGNC
Primary source
HGNC:HGNC:14660
See related
Ensembl:ENSG00000269858 MIM:606424
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EIT6; PHD1; EIT-6; HPH-1; HPH-3; HIFPH1; HIF-PH1
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]
Expression
Broad expression in testis (RPKM 61.2), spleen (RPKM 33.0) and 24 other tissues See more
Orthologs

Genomic context

See EGLN2 in Genome Data Viewer
Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40799191..40808434)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41305048..41314346)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene RAB4B-EGLN2 readthrough (NMD candidate) Neighboring gene MIA SH3 domain containing Neighboring gene RAB4B, member RAS oncogene family Neighboring gene cytochrome P450 family 2 subfamily T member 1, pseudogene Neighboring gene cytochrome P450 family 2 subfamily F member 2, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
NHGRI GWA Catalog
Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough RAB4B-EGLN2

Readthrough gene: RAB4B-EGLN2, Included gene: RAB4B

Homology

Clone Names

  • FLJ95603, DKFZp434E026

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
ferrous iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferrous iron binding IDA
Inferred from Direct Assay
more info
PubMed 
ferrous iron binding NAS
Non-traceable Author Statement
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
oxygen sensor activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-proline 4-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-proline 4-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-proline dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
prolyl hydroxylase EGLN2
Names
HIF-prolyl hydroxylase 1
egl nine homolog 2
estrogen-induced tag 6
hypoxia-inducible factor prolyl hydroxylase 1
prolyl hydroxylase domain-containing protein 1
NP_444274.1
NP_542770.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_053046.4NP_444274.1  prolyl hydroxylase EGLN2

    See identical proteins and their annotated locations for NP_444274.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Both variants 1 and 3 utilize alternative start codons that result in expression of two isoforms known as PHD1p43 and PHD1p40.
    Source sequence(s)
    AA994838, BC036051, DB049419
    Consensus CDS
    CCDS12567.1
    UniProtKB/Swiss-Prot
    Q96KS0
    UniProtKB/TrEMBL
    A0A024R0R2
    Related
    ENSP00000385253.1, ENST00000406058.6
    Conserved Domains (1) summary
    smart00702
    Location:199375
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
  2. NM_080732.4NP_542770.2  prolyl hydroxylase EGLN2

    See identical proteins and their annotated locations for NP_542770.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longer transcript. Both variants 1 and 3 utilize alternative start codons that result in expression of two isoforms known as PHD1p43 and PHD1p40.
    Source sequence(s)
    AA994838, BC001723, DA300182
    Consensus CDS
    CCDS12567.1
    UniProtKB/Swiss-Prot
    Q96KS0
    UniProtKB/TrEMBL
    A0A024R0R2
    Related
    ENSP00000307080.3, ENST00000303961.9
    Conserved Domains (1) summary
    smart00702
    Location:199375
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40799191..40808434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017555.1: Suppressed sequence

    Description
    NM_017555.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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