PHOX2A paired-like homeobox 2a [Homo sapiens] - Gene

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Summary

Official Symbol: PHOX2Aprovided by HGNC
Official Full Name: paired-like homeobox 2aprovided by HGNC
Primary source: HGNC:691
See related: Ensembl:ENSG00000165462; HPRD:04129; MIM:602753; Vega:OTTHUMG00000167899
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARIX; FEOM2; NCAM2; PMX2A; CFEOM2; MGC52227
Summary: The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q13.2

Sequence :: Chromosome: 11; NC_000011.9 (71950121..71955220, complement)

See PHOX2A in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Our 16-patient sample suggests that KIF21A and PHOX2A sequence variation does not have a role in common forms of congenital incomitant vertical strabismus.
Title: Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.
Transfection of Phox2a cDNA significantly increases mRNA and protein levels of norepinephrine transporter and dopamine beta-hydroxylase.
Title: Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells.
PHOX2A gene, localized in a tumor suppressor candidate region at 11q, weas screened for mutations by DNA sequencing in 47 tumors of different stages.
Title: The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A.
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
Title: PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
The ARIX 153G>A polymorphism might be a genetic risk factor for the development of congenital superior oblique muscle palsy
Title: Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
PHOX2A, like PHOX2B, is involved in the cascade leading to transcription factor TLX2 transactivation and presumably is involved in intestinal neuronal differentiation.
Title: Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.
a variant of Secretogranin II has a role in regulation by PHOX2 transcription factors and in hypertension
Title: An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.
PHOX2A mutation analysis revealed a novel nonsense mutation in CFEOM2 (congenital fibrosis of extraocular muscles type 2)
Title: A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).
the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy
Title: ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Fibrosis of extraocular muscles, congenital, 2

MIM: 602078

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Products	Interactant	Other Gene	Source	Pubs	Description
O14813	Q99941	ATF6B	HPRD	PubMed
O14813	Q92793	CREBBP	HPRD	PubMed
O14813	P61296	HAND2	HPRD	PubMed
O14813	O14813	PHOX2A	HPRD	PubMed
O14813	P17612	PRKACA	HPRD	PubMed
BioGRID:106894	BioGRID:107777	CREBBP	BioGRID	PubMed	Reconstituted Complex
BioGRID:106894	BioGRID:114850	HAND2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106894	BioGRID:109928	JUN	BioGRID	PubMed	Reconstituted Complex
BioGRID:106894	BioGRID:106894	PHOX2A	BioGRID	PubMed	Two-hybrid
BioGRID:106894	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
RNA polymerase II regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
locus ceruleus development	IEA Inferred from Electronic Annotation more info
noradrenergic neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
parasympathetic nervous system development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
regulation of respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info	PubMed
somatic motor neuron differentiation	IEA Inferred from Electronic Annotation more info
sympathetic nervous system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nuclear chromatin	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: paired mesoderm homeobox protein 2A

Names: paired mesoderm homeobox protein 2A; arix homeodomain protein; ARIX1 homeodomain protein; aristaless homeobox homolog; aristaless homeobox protein homolog

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008169.1 RefSeqGene

Range

5001..10100

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005169.3 → NP_005160.2 paired mesoderm homeobox protein 2A

Status: REVIEWED

Source sequence(s)

AK290645, BC041564

Consensus CDS

CCDS8214.1

UniProtKB/Swiss-Prot

O14813

Related

ENSP00000298231, OTTHUMP00000237214, ENST00000298231, OTTHUMT00000396885

Conserved Domains (1) summary

cd00086
Location:91 – 149
Blast Score: 199

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

71950121..71955220, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

68243281..68254307, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF022722.1	AAB82744.1
genomic	AF022723.1	AAB82744.1
genomic	AF022724.1	AAB82744.1
genomic	AJ320270.1	CAC44904.1
genomic	AP000593.4 (27935..33018)	None
genomic	CH471076.1	EAW74856.1
mRNA	AK290645.1	BAF83334.1
mRNA	BC041564.1	AAH41564.1
mRNA	BQ890461.1	None
other-genetic	EU446462.1	ABZ91991.1