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Pax4 Gene Detail
Summary
  • Symbol
    Pax4
  • Name
    paired box 4
  • Synonyms
    Pax-4
  • Feature Type
    protein coding gene
  • IDs
    MGI:97488
    NCBI Gene: 18506
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
Homology
more
  • Human Ortholog
    PAX4, paired box 4
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PAX4, paired box 4
    Orthology source: HomoloGene
  • Synonyms
    KPD, MODY9
  • Links
    NCBI Gene ID: 5078
    neXtProt AC: NX_O43316

  • Chr Location
    7q32; chr7:127610292-127618192 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human PAX4 associations

Human Disease Mouse Models
       Diabetes Mellitus, Ketosis-Prone; KPD   OMIM: 612227
Diabetes Mellitus, Noninsulin-Dependent; NIDDM   OMIM: 125853
Maturity-Onset Diabetes of the Young, Type 9; MODY9   OMIM: 612225
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 3 alleles in 5 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
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
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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
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    119 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 22
    Genomic 6
    cDNA 11
    Primer pair 4
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-13147, MGD-MRK-13156
References
more
  • Summaries
    All 81
    Developmental Gene Expression 34
    Gene Ontology 8
    Phenotypes 18
  • 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:220744 Xu EE, et al., SOX4 cooperates with neurogenin 3 to regulate endocrine pancreas formation in mouse models. Diabetologia. 2015 May;58(5):1013-23

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory