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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

Gene Tree: Egln1

Human
homologs
Human Homolog EGLN1, egl-9 family hypoxia-inducible factor 1
NCBI Gene ID 54583
neXtProt AC  NX_Q9GZT9
Human Synonyms  C1orf12, ECYT3, HIFPH2, HIF-PH2, HPH2, HPH-2, PHD2, SM20, ZMYND6
Human Chr (Location)  1q42.1; chr1:231363751-231425044 (-)  GRCh38
Disease Associations  (1) 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 302 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process cardiac muscle tissue morphogenesis, heart trabecula formation, ...
Component cytoplasm, cytosol, ...
Function dioxygenase activity, enzyme binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (45)    Tissues (45)    Images (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 45
cDNA source data(156)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(156) cDNA(156)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000031987 (Evidence)
Entrez Gene112405 (Evidence)
UniGene140619
DFCITC1574165, TC1601043, TC1715126, TC1729861, TC1751824
DoTSDT.101327814, DT.50316331, DT.94332362, DT.94342653
NIA Mouse Gene IndexU030400
EC1.14.11.29
Consensus CDS ProjectCCDS52706.1
International Mouse Knockout Project StatusEgln1
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:208042 Duan LJ, et al., Hematological, hepatic, and retinal phenotypes in mice deficient for prolyl hydroxylase domain proteins in the liver. Am J Pathol. 2014 Apr;184(4):1240-50
All references(76)
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
10/08/2014
MGI 5.20
The Jackson Laboratory