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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:67251751-67256399 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 35.95 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    106 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100882
 protein coding gene Chr5:67251742-67256644 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029592
 protein coding gene Chr5:66861518-66866438 (-)
A/J MGP_AJ_G0029560
 protein coding gene Chr5:64352130-64357008 (-)
AKR/J MGP_AKRJ_G0029508
 protein coding gene Chr5:66400917-66405795 (-)
BALB/cJ MGP_BALBcJ_G0029569
 protein coding gene Chr5:65039547-65044429 (-)
C3H/HeJ MGP_C3HHeJ_G0029292
 protein coding gene Chr5:66731843-66736719 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030023
 protein coding gene Chr5:69619616-69624518 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027263
 protein coding gene Chr5:60411309-60416125 (-)
CAST/EiJ MGP_CASTEiJ_G0028700
 protein coding gene Chr5:65911464-65916360 (-)
CBA/J MGP_CBAJ_G0029261
 protein coding gene Chr5:71856283-71861158 (-)
DBA/2J MGP_DBA2J_G0029407
 protein coding gene Chr5:64377095-64381971 (-)
FVB/NJ MGP_FVBNJ_G0029367
 protein coding gene Chr5:63551014-63555907 (-)
LP/J MGP_LPJ_G0029492
 protein coding gene Chr5:67359893-67364807 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029395
 protein coding gene Chr5:74640705-74645583 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030056
 protein coding gene Chr5:66079129-66084018 (-)
PWK/PhJ MGP_PWKPhJ_G0028424
 protein coding gene Chr5:63402733-63407588 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028258
 protein coding gene Chr5:65430604-65435425 (-)
WSB/EiJ MGP_WSBEiJ_G0028780
 protein coding gene Chr5:66317444-66324505 (-)



Homology
more
  • Human Ortholog
    PHOX2B, paired like homeobox 2B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PHOX2B, paired like homeobox 2B
  • Synonyms
    CCHS, NBLST2, NBPhox, PMX2B
  • Links
    NCBI Gene ID: 8929
    neXtProt AC: NX_Q99453
    UniProt: Q99453

  • Chr Location
    4p13; chr4:41744082-41748725 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Phox2b mouse models; 3 with human PHOX2B associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    75 phenotypes from 10 alleles in 17 genetic backgrounds
    14 phenotypes from multigenic genotypes
    3 images
    74 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.
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
less
  • All GO Annotations
    57
  • GO References
    21
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
    1515
  • Tissues
    333
  • cDNA Data
    16
  • Literature Summary
    245
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18935 NCBI Gene Model | MGI Sequence Detail 4649 C57BL/6J ±  kb
    transcript NM_008888 RefSeq | MGI Sequence Detail 2759 C57BL/6  
    polypeptide O35690 UniProt | EBI | MGI Sequence Detail 314 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 16
      Primer pair 6
      Other 14

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1890532
    References
    more
    • Summaries
      All 311
      Developmental Gene Expression 245
      Diseases 2
      Gene Ontology 21
      Phenotypes 74
    • 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:357469 Sivori M, et al., The pelvic organs receive no parasympathetic innervation. Elife. 2024;15
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory