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Egln1
Gene Detail
Symbol

Name
ID
Egln1
egl-9 family hypoxia-inducible factor 1
MGI:1932286
Synonyms
Hif-p4h-2, ORF13, Phd2, SM-20
Feature Type
protein coding gene
Genetic Map
Chromosome 8
72.86 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:124908596-124949254 bp, - strand
From Ensembl annotation of GRCm38

  40659 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56936  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: EGLN1
Gene Tree: Egln1

Human
homologs
EGLN1, egl-9 family hypoxia-inducible factor 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 54583
neXtProt AC: NX_Q9GZT9

Human Synonyms: C1orf12, ECYT3, HALAH, HIFPH2, HIF-PH2, HPH2, HPH-2, PHD2, SM20, ZMYND6

Human Chr (Location): 1q42.1; chr1:231363751-231425044 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human EGLN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(2) Targeted(10)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity.
 
Interactions
Egln1 interacts with 301 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process cardiac muscle tissue morphogenesis, heart trabecula formation, ...
Component cytoplasm, cytosol, ...
Function dioxygenase activity, enzyme binding, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (45)    Tissues (45)    Images (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 45
cDNA source data(156)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase egln1 ; ZFIN egln1b    NEW 
Molecular
reagents
All nucleic(156) cDNA(156)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000031987 (Evidence)
Entrez Gene 112405 (Evidence)
UniGene 140619
DFCI TC1601043, TC1574165, TC1715126, TC1729861, TC1751824
DoTS DT.50316331, DT.101327814, DT.94332362, DT.94342653
NIA Mouse Gene Index U030400
EC 1.14.11.29
Consensus CDS Project CCDS52706.1
International Mouse Phenotyping Consortium Status Egln1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031987 Ensembl Gene Model | MGI Sequence Detail 40659 C57BL/6J ±  kb
transcript ENSMUST00000034469 Ensembl | MGI Sequence Detail 3515 Not Applicable 
polypeptide ENSMUSP00000034469 Ensembl | MGI Sequence Detail 400 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(524 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005123 Oxoglutarate/iron-dependent dioxygenase
InterPro IPR006620 Prolyl 4-hydroxylase, alpha subunit
InterPro IPR002893 Zinc finger, MYND-type
Protein Ontology PR:000006934 egl nine homolog 1
References
(Earliest) J:60099 Moschella MC, et al., SM-20 is a novel growth factor-responsive gene regulated during skeletal muscle development and differentiation. Gene Expr. 1999;8(1):59-66
(Latest) J:215343 Taniguchi CM, et al., PHD inhibition mitigates and protects against radiation-induced gastrointestinal toxicity via HIF2. Sci Transl Med. 2014 May 14;6(236):236ra64
All references(80)
Other
accession IDs
MGI:1929952, MGI:2142578

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory