Hs06288229_cn

• Gene Symbol: PHOX2A
• Assay Reference Genome Location: Chr.11:72243367 on build GRCh38
• Cytoband: 11q13.4

Target Gene Details

• Entrez Gene ID: 401
• Gene Name: paired like homeobox 2a
• Gene Aliases: ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
• Location: Chr.11:72239077-72244176 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHOX2A	NM_005169.3			NP_005160.2
	AK290645.1
	BC041564.1			AAH41564.1
	BQ890461.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951038	Chr.11:72226157 - 72253456 on Build GRCh38	Deletion	LOC220077 INPPL1 PHOX2A

More Information

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

Panther Classification:

Molecular Function -

homeodomain transcription factor

Gene Ontology Categories:

Process(es)

noradrenergic neuron differentiation
transcription, DNA-templated
somatic motor neuron differentiation
oculomotor nerve formation
trochlear nerve formation
locus ceruleus development
midbrain development
regulation of respiratory gaseous exchange
positive regulation of transcription from RNA polymerase II promoter
sympathetic nervous system development
dopaminergic neuron differentiation

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcription factor activity, sequence-specific DNA binding