Hs07463131_cn

• Gene Symbol: EPAS1
• Assay Reference Genome Location: Chr.2:46299300 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 2034
• Gene Name: endothelial PAS domain protein 1
• Gene Aliases: ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
• Location: Chr.2:46297402-46386703 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPAS1	NM_001430.4			NP_001421.2
	BC051338.1			AAH51338.1
	CD109908.1
	U51626.1			AAC51212.1
	U81984.1			AAB41495.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv581743	Chr.2:46272597 - 46310465 on Build GRCh38	Loss	EPAS1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

angiogenesis
response to hypoxia
embryonic placenta development
blood vessel remodeling
regulation of heart rate
transcription from RNA polymerase II promoter
mitochondrion organization
signal transduction
visual perception
erythrocyte differentiation
lung development
somatic stem cell population maintenance
norepinephrine metabolic process
surfactant homeostasis
regulation of transcription from RNA polymerase II promoter in response to oxidative stress
positive regulation of transcription from RNA polymerase II promoter
cell maturation
myoblast fate commitment
iron ion homeostasis
regulation of transcription from RNA polymerase II promoter in response to hypoxia
cellular response to hypoxia

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
protein binding
transcription factor binding
histone acetyltransferase binding
sequence-specific DNA binding
protein heterodimerization activity