Egln3 MGI Mouse Gene Detail - MGI:1932288 - egl-9 family hypoxia-inducible factor 3

Symbol

Egln3
Name

egl-9 family hypoxia-inducible factor 3
Synonyms

2610021G09Rik, Hif-p4h-3, Phd3, SM-20

Feature Type

protein coding gene
IDs

MGI:1932288
NCBI Gene: 112407
Gene Overview

MyGene.info: EGLN3
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr12:54178981-54203860 bp, - strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 22.90 cM
Mapping Data

2 experiments

SNPs within 2kb

128 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1932288	protein coding gene	Chr12:54178981-54203874 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019735	protein coding gene	Chr12:53071412-53099621 (-)
A/J	MGP_AJ_G0019697	protein coding gene	Chr12:51213002-51237826 (-)
AKR/J	MGP_AKRJ_G0019668	protein coding gene	Chr12:52738927-52765696 (-)
BALB/cJ	MGP_BALBcJ_G0019675	protein coding gene	Chr12:51490262-51518699 (-)
C3H/HeJ	MGP_C3HHeJ_G0019478	protein coding gene	Chr12:52838710-52869183 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020123	protein coding gene	Chr12:54688657-54719969 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017746	protein coding gene	Chr12:49527405-49552073 (-)
CAST/EiJ	MGP_CASTEiJ_G0019031	protein coding gene	Chr12:47887408-47913815 (-)
CBA/J	MGP_CBAJ_G0019450	protein coding gene	Chr12:56576222-56603698 (-)
DBA/2J	MGP_DBA2J_G0019564	protein coding gene	Chr12:51067831-51093829 (-)
FVB/NJ	MGP_FVBNJ_G0019553	protein coding gene	Chr12:50490394-50515272 (-)
LP/J	MGP_LPJ_G0019636	protein coding gene	Chr12:53143544-53169702 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019589	protein coding gene	Chr12:58212526-58239767 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020161	protein coding gene	Chr12:52238106-52263669 (-)
PWK/PhJ	MGP_PWKPhJ_G0018798	protein coding gene	Chr12:45641379-45667581 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018592	protein coding gene	Chr12:46825829-46853663 (-)
WSB/EiJ	MGP_WSBEiJ_G0019082	protein coding gene	Chr12:52714027-52741833 (-)

Human Ortholog

EGLN3, egl-9 family hypoxia inducible factor 3

Vertebrate Orthologs

10

Human Ortholog

EGLN3, egl-9 family hypoxia inducible factor 3
Orthology source: HomoloGene, HGNC
Synonyms

HIFP4H3, HIFPH3, PHD3
Links

HGNC:14661

NCBI Gene ID: 112399

neXtProt AC: NX_Q9H6Z9

UniProt: Q9H6Z9
Chr Location

14q13.1; chr14:33924215-33951078 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 32531
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: EGLN3
Gene Tree

Egln3

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Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

23 phenotypes from 3 alleles in 4 genetic backgrounds
23 phenotypes from multigenic genotypes
47 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Gene trapped

2
Targeted

9
Genomic Mutations

1 involving Egln3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display decreased apoptosis in SCG neurons, reduced adrenal medullary secretory capacity, abnormal adrenal medulla morphology, reduced circulating adrenaline and noradrenaline levels, and reduced systolic blood pressure.

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All GO Annotations

24
GO References

8

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

19
Tissues

13
cDNA Data

107
Literature Summary

13

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase egln3

ZFIN egln3

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Egln3 interacts with 228 markers (Mir1b, Mir9-1, Mir9-2, ...) View All

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All Sequences

41
RefSeq

2
UniProt

2
CCDS

CCDS25908.1
UniGene

133037

Ensembl

ENSMUSG00000035105 (Evidence)
NCBI Gene

112407

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035105	Ensembl Gene Model \| MGI Sequence Detail	24880	C57BL/6J	± kb
transcript	ENSMUST00000039516	Ensembl \| MGI Sequence Detail	2662	Not Applicable
polypeptide	ENSMUSP00000041874	Ensembl \| MGI Sequence Detail	239	Not Applicable

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UniProt

2 Sequences
EC

1.14.11.29
InterPro Domains

IPR005123 Oxoglutarate/iron-dependent dioxygenase

IPR006620 Prolyl 4-hydroxylase, alpha subunit

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All nucleic 108

cDNA 107

Primer pair 1

Microarray probesets 5

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MGI:1919408, MGI:2144852, MGI:2144873

Summaries

All 97

Developmental Gene Expression 13

Diseases 1

Gene Ontology 8

Phenotypes 47
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:254708 Yoshinaga M, et al., Regnase-1 Maintains Iron Homeostasis via the Degradation of Transferrin Receptor 1 and Prolyl-Hydroxylase-Domain-Containing Protein 3 mRNAs. Cell Rep. 2017 May 23;19(8):1614-1630

TSS for Egln3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr116294	Chr12:54203861-54203887 (-)	-14 bp
Tssr116293	Chr12:54203844-54203857 (-)	9 bp
Tssr116292	Chr12:54203822-54203838 (-)	30 bp
Tssr116291	Chr12:54203794-54203811 (-)	57 bp
Tssr116290	Chr12:54203273-54203297 (-)	575 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 01/08/2019 MGI 6.13