About   Help   FAQ
Pax4 Gene Detail
Summary
  • Symbol
    Pax4
  • Name
    paired box 4
  • Synonyms
    Pax-4
  • Feature Type
    protein coding gene
  • IDs
    MGI:97488
    NCBI Gene: 18506
  • Gene Overview
    MyGene.info: PAX4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:28442334-28449353 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7020 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 11.99 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PAX4, paired box 4
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PAX4, paired box 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KPD, MODY9
  • Links
    NCBI Gene ID: 5078
    neXtProt AC: NX_O43316
    UniProt: O43316

  • Chr Location
    7q32.1; chr7:127610292-127618192 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with human PAX4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 4 alleles in 6 genetic backgrounds
    21 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.
Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000035782 VEGA Gene Model | MGI Sequence Detail 7020 C57BL/6J ±  kb
    transcript OTTMUST00000091572 VEGA | MGI Sequence Detail 1370 Not Applicable  
    polypeptide OTTMUSP00000050451 VEGA | MGI Sequence Detail 349 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      119 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 6
      cDNA 11
      Primer pair 4
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13147, MGD-MRK-13156
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 47
      Gene Ontology 8
      Phenotypes 21
    • Earliest
      J:11577 Walther C, et al., Pax: a murine multigene family of paired box-containing genes. Genomics. 1991 Oct;11(2):424-34
    • Latest
      J:251491 Druelle N, et al., Ectopic expression of Pax4 in pancreatic delta cells results in beta-like cell neogenesis. J Cell Biol. 2017 Dec 4;216(12):4299-4311

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory