Egln1
Gene Detail

Symbol Name ID

Egln1 EGL nine homolog 1 (C. elegans) 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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Egln1

Human homologs

Human Homolog		EGLN1, egl nine homolog 1 (C. elegans)
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; chr1:231499497-231560790 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EGLN1

Alleles and phenotypes

All alleles(9) : Targeted(7) Gene trapped(2)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	cardiac muscle tissue morphogenesis, heart trabecula formation, ...
Component	cytoplasm, cytosol, ...
Function	iron ion binding, L-ascorbic acid binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (44)    Tissues (44)    Images (5)
Theiler Stages: 17, 21, 23, 28

Assay Type	Results
RNA in situ	44

cDNA source data(156)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1574165, TC1601043, TC1715126, TC1729861, TC1751824
DoTS	DT.101327814, DT.50316331, DT.94332362, DT.94342653
NIA Mouse Gene Index	U030400
EC	1.14.11.29
Consensus CDS Project	CCDS52706.1
International Mouse Knockout Project Status	Egln1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000031987	Ensembl Gene Model | MGI Sequence Detail	40659	C57BL/6J
transcript	ENSMUST00000034469	Ensembl | MGI Sequence Detail	3515	Not Applicable
polypeptide	ENSMUSP00000034469	Ensembl | MGI Sequence Detail	400	Not Applicable

All sequences(31) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(77 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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 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:194598 Franke K, et al., HIF-1alpha is a protective factor in conditional PHD2-deficient mice suffering from severe HIF-2alpha-induced excessive erythropoiesis. Blood. 2013 Feb 21;121(8):1436-45
All references(60)

Other accession IDs

MGI:1929952, MGI:2142578