Phox2a
Gene Detail

Symbol Name ID

Phox2a paired-like homeobox 2a MGI:106633

Synonyms

Arix, Pmx2, Pmx2a

Feature Type

protein coding gene

Genetic Map

Chromosome 7

54.66 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr7:101818313-101823166 bp, + strand From VEGA annotation of GRCm38   4854 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:31296  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Phox2a

Human homologs

Human Homolog		PHOX2A, paired-like homeobox 2a
NCBI Gene ID		401
neXtProt AC		NX_O14813
Human Synonyms		ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
Human Chr (Location)		11q13.2; chr11:71950121-71955220 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PHOX2A

Alleles and phenotypes

All alleles(8) : Targeted(7) Gene trapped(1)
 

Homozygotes for targeted null mutations exhibit deficits in sensory and autonomic ganglia, lack of the locus coeruleus, and impaired migration of facial visceral motor axon. Mutants appear normal at birth but fail to nurse and die within 24 hours.

 
Human Diseases Modeled Using Mouse Phox2a (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	locus ceruleus development, midbrain development, ...
Component	nuclear chromatin, nucleus
Function	DNA binding, RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription, ...

External Resources: FuncBase

Expression

Literature Summary: (77 records)
Data Summary: Results (250)    Tissues (216)    Images (55)
Theiler Stages: 14, 15, 16, 17, 18, 20, 21, 22, 23, 28

Assay Type	Results
Immunohistochemistry	22
RNA in situ	221
Northern blot	7

cDNA source data(9)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(17) Genomic(3) cDNA(10) Other(4)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000037719 (Evidence)
Ensembl Gene Model	ENSMUSG00000007946 (Evidence)
Entrez Gene	11859 (Evidence)
DFCI	TC1587102, TC1663562
Consensus CDS Project	CCDS21514.1
International Mouse Knockout Project Status	Phox2a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037719	VEGA Gene Model | MGI Sequence Detail	4854	C57BL/6J
transcript	OTTMUST00000097413	VEGA | MGI Sequence Detail	2049	Not Applicable
polypeptide	OTTMUSP00000054636	VEGA | MGI Sequence Detail	280	Not Applicable

All sequences(17) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(1) : SNPs(8 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
Protein Ontology	PR:000012671	paired mesoderm homeobox protein 2A

References

(Earliest) J:15712 Valarche I, et al., The mouse homeodomain protein Phox2 regulates Ncam promoter activity in concert with Cux/CDP and is a putative determinant of neurotransmitter phenotype. Development. 1993 Nov;119(3):881-96
(Latest) J:189488 Waite MR, et al., Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2. Mol Cell Neurosci. 2012 Jan;49(1):32-43
All references(106)

Other accession IDs

MGD-MRK-13533, MGD-MRK-35090, MGI:97713