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PHOX2A

GENERAL INFORMATION

Gene name

 PHOX2A

Gene description

 Paired-like homeobox 2a

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enriched (ovarian cancer)
HPA (cell line):Cell line enriched (SH-SY5Y)
HPA (normal tissue):Tissue enriched (adrenal gland)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enriched (ovarian cancer)

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 PHOX2A (HGNC Symbol)

Synonyms

 ARIX, CFEOM2, FEOM2, PMX2A

Description

 Paired-like homeobox 2a (HGNC Symbol)

Entrez gene 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]

Chromosome

 11

Cytoband

 q13.4

Chromosome location (bp)

 72239077 - 72245664

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165462 (version 83.38)

Entrez gene

 401

UniProt

 O14813 (UniProt - Evidence at protein level)

neXtProt

 NX_O14813

Antibodypedia

 PHOX2A antibodies

PROTEIN BROWSER
PHOX2A-001
PHOX2A-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PHOX2A-001
ENSP00000298231
ENST00000298231
O14813 [Direct mapping]
Paired mesoderm homeobox protein 2A
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Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Protein evidence (Ezkurdia et al 2014)
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GO:0000790 [nuclear chromatin]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0003357 [noradrenergic neuron differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0021523 [somatic motor neuron differentiation]
GO:0021623 [oculomotor nerve formation]
GO:0021642 [trochlear nerve formation]
GO:0021703 [locus ceruleus development]
GO:0030901 [midbrain development]
GO:0043565 [sequence-specific DNA binding]
GO:0043576 [regulation of respiratory gaseous exchange]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048485 [sympathetic nervous system development]
GO:0048486 [parasympathetic nervous system development]
GO:0071542 [dopaminergic neuron differentiation]
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 284 aa
29.7 kDa 		No 0
PHOX2A-002
ENSP00000444845
ENST00000546310
H0YGU5 [Direct mapping]
Paired mesoderm homeobox protein 2A
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding]
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 85 aa
8.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.