Hs07008255_cn

• Gene Symbol: NFE2
• Assay Reference Genome Location: Chr.12:54300484 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 4778
• Gene Name: nuclear factor, erythroid 2
• Gene Aliases: NF-E2, p45
• Location: Chr.12:54292107-54301037 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NFE2	NM_001136023.2			NP_001129495.1
	NM_001261461.1			NP_001248390.1
	AK313207.1
	BC005044.1			AAH05044.1
	BE243330.1
	L13974.1			AAA35612.1
	L24122.1			AAA16118.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1049160	Chr.12:54254119 - 54362754 on Build GRCh38	Gain	LOC102724050 MIR148B COPZ1 GPR84 CBX5 HNRNPA1 NFE2

More Information

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

Panther Classification:

Molecular Function -

basic leucine zipper transcription factor

Gene Ontology Categories:

Process(es)

nucleosome disassembly
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
multicellular organism development
blood coagulation
hemostasis
blood circulation
positive regulation of transcription, DNA-templated

Function(s)

transcription regulatory region sequence-specific DNA binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
protein binding
sequence-specific DNA binding
protein N-terminus binding
WW domain binding