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Phox2a Gene Detail
Summary
  • Symbol
    Phox2a
  • Name
    paired-like homeobox 2a
  • Synonyms
    Arix, Pmx2, Pmx2a, Px2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:106633
    NCBI Gene: 11859
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:101467520-101471933 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 54.66 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    150 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106633
 protein coding gene Chr7:101467520-101471933 (+)
129S1/SvImJ ENSMUSG00200044482
 protein coding gene Chr7:88309386-88313799 (+)
A/J ENSMUSG00195054409
 protein coding gene Chr7:92815034-92819447 (+)
AKR/J ENSMUSG00220047379
 protein coding gene Chr7:86231659-86236072 (+)
BALB/cJ ENSMUSG00180030615
 protein coding gene Chr7:89487971-89492385 (+)
C3H/HeJ ENSMUSG00175021068
 protein coding gene Chr7:90141559-90145982 (+)
C57BL/6NJ ENSMUSG00215023536
 protein coding gene Chr7:89314472-89318885 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030065
 protein coding gene Chr7:104516277-104520738 (+)
CAST/EiJ ENSTCUG00005052895
 protein coding gene Chr7:92722766-92727193 (+)
CBA/J ENSMUSG00210024809
 protein coding gene Chr7:89994992-89999415 (+)
DBA/2J ENSMUSG00185056109
 protein coding gene Chr7:94316734-94321157 (+)
FVB/NJ ENSMUSG00205035135
 protein coding gene Chr7:89986143-89990556 (+)
JF1/MsJ ENSUMUG00000040741
 protein coding gene Chr7:99217682-99222105 (+)
LP/J ENSMUSG00230041747
 protein coding gene Chr7:100423480-100427893 (+)
NOD/ShiLtJ ENSMUSG00190018607
 protein coding gene Chr7:90258803-90263216 (+)
NZO/HlLtJ ENSMUSG00225049350
 protein coding gene Chr7:98655901-98660314 (+)
PWK/PhJ ENSLUMG00010039891
 protein coding gene Chr7:88467302-88471725 (+)
SPRET/EiJ ENSMSPG00010010930
 protein coding gene Chr7:89710332-89714760 (+)
WSB/EiJ ENSIUOG00005008338
 protein coding gene Chr7:90580397-90584821 (+)



Homology
more
  • Human Ortholog
    PHOX2A, paired like homeobox 2A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHOX2A, paired like homeobox 2A
  • Synonyms
    ARIX, CFEOM2, FEOM2, PMX2A
  • Links
    NCBI Gene ID: 401
    UniProt: O14813

  • Chr Location
    11q13.4; chr11:72239077-72245664 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Phox2a mouse models; 1 with human PHOX2A associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 5 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    16
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1121
  • Tissues
    325
  • cDNA Data
    10
  • Literature Summary
    103
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11859 NCBI Gene Model | MGI Sequence Detail 4414 C57BL/6J ±  kb
    transcript NM_008887 RefSeq | MGI Sequence Detail 1609 ZRU/MplStud  
    polypeptide Q62066 UniProt | EBI | MGI Sequence Detail 280 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 3
      cDNA 11
      Primer pair 1
      Other 13
      Antibodies 8

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13533, MGD-MRK-35090, MGI:97713
    References
    more
    • Summaries
      All 160
      Developmental Gene Expression 103
      Diseases 1
      Gene Ontology 16
      Phenotypes 28
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:382758 Segarra LC, et al., Evidence for chronological diversification of spinal neuron subtypes by a shared sequence of transcription factors. Sci Adv. 2026 Mar 20;12(12):eadz3075
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory