Epas1
Gene Detail

Symbol Name ID

Epas1 endothelial PAS domain protein 1 MGI:109169

Synonyms

bHLHe73, HIF2A, HIF-2alpha, Hif like protein, HLF, HRF, hypoxia inducible transcription factor 2alpha, MOP2

Feature Type

protein coding gene

Genetic Map

Chromosome 17

56.90 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr17:86753907-86833410 bp, + strand From Ensembl annotation of GRCm38   79504 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1095  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Epas1

Human homologs

Human Homolog		EPAS1, endothelial PAS domain protein 1
NCBI Gene ID		2034
neXtProt AC		NX_Q99814
Human Synonyms		bHLHe73, ECYT4, HIF2A, HLF, MOP2, PASD2
Human Chr (Location)		2p21-p16; chr2:46524541-46613842 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EPAS1

Alleles and phenotypes

All alleles(32) : Targeted(9) Gene trapped(23)
 

Mice homozygous for null mutations display prenatal, neonatal, or postnatal lethality. For some alleles lethality is associated with vascular abnormalities.

 
Human Diseases Modeled Using Mouse Epas1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (56 annotations)

Process	angiogenesis, blood vessel remodeling, ...
Component	cytoplasm, nucleus, ...
Function	DNA binding, histone acetyltransferase binding, ...

External Resources: FuncBase

Expression

Literature Summary: (40 records)
Data Summary: Results (253)    Tissues (112)    Images (77)
Theiler Stages: 2, 3, 4, 5, 11, 13, 15, 17, 19, 20, 21, 23, 28

Assay Type	Results
RNA in situ	212
Northern blot	8
RT-PCR	33

cDNA source data(71)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(78) cDNA(71) Primer pair(4) Other(3)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000024140 (Evidence)
Entrez Gene	13819 (Evidence)
UniGene	1415
DFCI	TC1583230, TC1616170
DoTS	DT.87072354, DT.94250734
NIA Mouse Gene Index	U038125
Consensus CDS Project	CCDS37713.1
International Mouse Knockout Project Status	Epas1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000024140	Ensembl Gene Model | MGI Sequence Detail	79504	C57BL/6J
transcript	ENSMUST00000024954	Ensembl | MGI Sequence Detail	5309	Not Applicable
polypeptide	ENSMUSP00000024954	Ensembl | MGI Sequence Detail	874	Not Applicable

All sequences(21) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(602 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR014887	HIF-1 alpha, transactivation domain, C-terminal
InterPro	IPR021537	Hypoxia-inducible factor, alpha subunit
InterPro	IPR011598	Myc-type, basic helix-loop-helix (bHLH) domain
InterPro	IPR001067	Nuclear translocator
InterPro	IPR001610	PAC motif
InterPro	IPR000014	PAS domain
InterPro	IPR013767	PAS fold
InterPro	IPR013655	PAS fold-3
Protein Ontology	PR:000007106	endothelial PAS domain-containing protein 1

References

(Earliest) J:37851 Tian H, et al., Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev. 1997 Jan 1;11(1):72-82
(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(131)

Other accession IDs

MGD-MRK-38213