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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0032587
 protein coding gene Chr7:104829792-104834205 (+)
A/J MGP_AJ_G0032563
 protein coding gene Chr7:102161695-102166108 (+)
AKR/J MGP_AKRJ_G0032499
 protein coding gene Chr7:104607509-104611922 (+)
BALB/cJ MGP_BALBcJ_G0032574
 protein coding gene Chr7:101861189-101865602 (+)
C3H/HeJ MGP_C3HHeJ_G0032288
 protein coding gene Chr7:104978319-104982742 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033071
 protein coding gene Chr7:108776339-108780752 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030065
 protein coding gene Chr7:104516277-104520738 (+)
CAST/EiJ MGP_CASTEiJ_G0031614
 protein coding gene Chr7:96529501-96533928 (+)
CBA/J MGP_CBAJ_G0032254
 protein coding gene Chr7:112543599-112548022 (+)
DBA/2J MGP_DBA2J_G0032406
 protein coding gene Chr7:100489666-100494089 (+)
FVB/NJ MGP_FVBNJ_G0032362
 protein coding gene Chr7:100270534-100274961 (+)
LP/J MGP_LPJ_G0032495
 protein coding gene Chr7:106146773-106151186 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032396
 protein coding gene Chr7:113879919-113884332 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033093
 protein coding gene Chr7:103868229-103872642 (+)
PWK/PhJ MGP_PWKPhJ_G0031332
 protein coding gene Chr7:93599313-93603736 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031176
 protein coding gene Chr7:91158995-91163423 (+)
WSB/EiJ MGP_WSBEiJ_G0031731
 protein coding gene Chr7:104559243-104563667 (+)



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, NCAM2, PMX2A
  • Links
    NCBI Gene ID: 401
    neXtProt AC: NX_O14813
    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
    27 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
    29
  • GO References
    13
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
    1226
  • Tissues
    323
  • cDNA Data
    10
  • Literature Summary
    101
  • 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 27
      Genomic 3
      cDNA 11
      Primer pair 1
      Other 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13533, MGD-MRK-35090, MGI:97713
    References
    more
    • Summaries
      All 143
      Developmental Gene Expression 101
      Diseases 1
      Gene Ontology 13
      Phenotypes 27
    • 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:343072 Vermeiren S, et al., Prdm12 represses the expression of the visceral neuron determinants Phox2a/b in developing somatosensory ganglia. iScience. 2023 Dec 15;26(12):108364
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory