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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
  • Gene Overview
    MyGene.info: PHOX2A
Location & Maps
more
  • Sequence Map
    Chr7:101818313-101822726 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4414 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 54.66 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PHOX2A, paired like homeobox 2a
  • Vertebrate Orthologs
    7
  • Human Ortholog
    PHOX2A, paired like homeobox 2a
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
  • Links
    NCBI Gene ID: 401
    neXtProt AC: NX_O14813

  • Chr Location
    11q13.4; chr11:72239077-72244176 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Phox2a mouse models; 1 with human PHOX2A associations

Human Disease Mouse Models
       Diabetes Mellitus, Noninsulin-Dependent; NIDDM   OMIM: 125853 View 2 models
       Fibrosis of Extraocular Muscles, Congenital, 2; CFEOM2   OMIM: 602078
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
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  • Phenotype Summary
    39 phenotypes from 5 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    22 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.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Phox2a
  • Incidental Mutations
    APF , CvDC
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037719 VEGA Gene Model | MGI Sequence Detail 4414 C57BL/6J ±  kb
transcript OTTMUST00000097413 VEGA | MGI Sequence Detail 1609 Not Applicable  
polypeptide OTTMUSP00000054636 VEGA | MGI Sequence Detail 280 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    13 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 19
    Genomic 3
    cDNA 11
    Other 5

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13533, MGD-MRK-35090, MGI:97713
References
more
  • Summaries
    All 113
    Developmental Gene Expression 84
    Diseases 1
    Gene Ontology 12
    Phenotypes 22
  • 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:233763 Karpinski BA, et al., A cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons. Dev Biol. 2016 Jul 15;415(2):228-41

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory