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Phox2b Gene Detail
Summary
  • Symbol
    Phox2b
  • Name
    paired-like homeobox 2b
  • Synonyms
    Dilp1, GENA 269, NBPhox, Phox2b, Pmx2b, Px2b
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100882
    NCBI Gene: 18935
  • Gene Overview
    MyGene.info: PHOX2B
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:67094399-67099301 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4903 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 35.95 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PHOX2B, paired like homeobox 2B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PHOX2B, paired like homeobox 2B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CCHS, NBLST2, NBPhox, PMX2B
  • Links
    NCBI Gene ID: 8929
    neXtProt AC: NX_Q99453
    UniProt: Q99453

  • Chr Location
    4p13; chr4:41744082-41748970 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Phox2b mouse models; 2 with human PHOX2B associations

Human Disease Mouse Models
      
IDs
View 1 model
      
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
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  • Phenotype Summary
    66 phenotypes from 8 alleles in 14 genetic backgrounds
    3 phenotypes from multigenic genotypes
    3 images
    64 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Heterozygotes for an ethylnitrosourea-induced mutation exhibit dilated pupils and reduced preweaning viability. Other mice heterozygous for mutations in this gene exhibit respiratory failure and specific loss of parafacial interneurons. Homozygotes are inviable.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000037720 VEGA Gene Model | MGI Sequence Detail 4903 C57BL/6J ±  kb
    transcript OTTMUST00000097414 VEGA | MGI Sequence Detail 3013 Not Applicable  
    polypeptide OTTMUSP00000054637 VEGA | MGI Sequence Detail 314 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      28 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 16
      Primer pair 4
      Other 7

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1890532
    References
    more
    • Summaries
      All 254
      Developmental Gene Expression 193
      Diseases 1
      Gene Ontology 19
      Phenotypes 64
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:260552 Donnelly CR, et al., Biphasic functions for the GDNF-Ret signaling pathway in chemosensory neuron development and diversification. Proc Natl Acad Sci U S A. 2018 Jan 16;115(3):E516-E525

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory