Phox2a paired-like homeobox 2a [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Phox2aprovided by MGI
Official Full Name: paired-like homeobox 2aprovided by MGI
Primary source: MGI:MGI:106633
See related: Ensembl:ENSMUSG00000007946 AllianceGenome:MGI:106633
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Arix; Pmx2; Px2a; Phox2; Pmx2a
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in oculomotor nerve formation and trochlear nerve formation. Acts upstream of or within nervous system development; regulation of respiratory gaseous exchange; and regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including adrenal gland; alimentary system; epibranchial placode; genitourinary system; and nervous system. Used to study type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in congenital fibrosis of the extraocular muscles 2. Orthologous to human PHOX2A (paired like homeobox 2A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in adrenal adult (RPKM 26.5) and stomach adult (RPKM 0.6) See more
Orthologs: human all
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Genomic context

Location:: 7 E2; 7 54.66 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (101467520..101471933)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (101818313..101822726)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic evidence of the function of Phox2a-expressing anterolateral system neurons in the transmission of chronic pain.
Title: Genetic evidence of the function of Phox2a-expressing anterolateral system neurons in the transmission of chronic pain.
Characterisation of lamina I anterolateral system neurons that express Cre in a Phox2a-Cre mouse line.
Title: Characterisation of lamina I anterolateral system neurons that express Cre in a Phox2a-Cre mouse line.
Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
Title: Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
All E1 sequences from lamprey to mouse responded equally well to Phox2a and the Isl1-Lhx3 complex. Conversely, E2, the enhancer for limb-innervating motor neurons, was only found in tetrapod animals
Title: Functional Diversification of Motor Neuron-specific Isl1 Enhancers during Evolution.
reveal an unanticipated role for Lmx1b in regulating Phox2a expression and the sequential specification of ocular motor neurons (OMNs) and red nucleus neurons (RNNs) from progenitors located lateral to dopamine neurons in the midbrain
Title: Specific and integrated roles of Lmx1a, Lmx1b and Phox2a in ventral midbrain development.
Maintenance of noradrenergic differentiation during embryogenesis requires ongoing expression of Phox2b in sympathetic ganglia, and of Phox2a in the main noradrenergic center, the locus coeruleus.
Title: Ongoing roles of Phox2 homeodomain transcription factors during neuronal differentiation.
Phox2 genes have roles in neural differentiation
Title: Reciprocal gene replacements reveal unique functions for Phox2 genes during neural differentiation.
Noradrenaline, A6 neurons, and the Phox2a gene, which is crucial for the generation of A6 neurons, are essential for development of normal respiratory rhythm in neonatal mice
Title: Phox2a gene, A6 neurons, and noradrenaline are essential for development of normal respiratory rhythm in mice.
These data indicate that Phox2a plays a critical role in the ontogeny of the reflex control of inspiration.
Title: Abnormal inspiratory depth in Phox2a haploinsufficient mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (7) 1 citation

General gene information

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Markers

X75014 (e-PCR)
- UniSTS:125839

NoName (e-PCR)
- UniSTS:235730

NoName (e-PCR)
- UniSTS:484827

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within locus ceruleus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within noradrenergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oculomotor nerve formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within parasympathetic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of respiratory gaseous exchange	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within somatic motor neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sympathetic nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in trochlear nerve formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: paired mesoderm homeobox protein 2A

Names: PHOX2A homeodomain protein; aristaless homeobox gene homolog; aristaless homeobox protein homolog; paired mesoderm homeobox 2a

NCBI Reference Sequences (RefSeq)

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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.