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
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Chr6:28442333-28449339 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 11.99 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    326 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97488
 protein coding gene Chr6:28442333-28449352 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030510
 protein coding gene Chr6:26170236-26177224 (-)
A/J MGP_AJ_G0030483
 protein coding gene Chr6:25065383-25072484 (-)
AKR/J MGP_AKRJ_G0030410
 protein coding gene Chr6:25895098-25902054 (-)
BALB/cJ MGP_BALBcJ_G0030493
 protein coding gene Chr6:25228537-25236204 (-)
C3H/HeJ MGP_C3HHeJ_G0030206
 protein coding gene Chr6:25878103-25885098 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030947
 protein coding gene Chr6:26966963-26973877 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028158
 protein coding gene Chr6:23295340-23302149 (-)
CAST/EiJ MGP_CASTEiJ_G0029608
 protein coding gene Chr6:25688014-25694910 (-)
CBA/J MGP_CBAJ_G0030184
 protein coding gene Chr6:27933593-27943142 (-)
DBA/2J MGP_DBA2J_G0030328
 protein coding gene Chr6:25019452-25026447 (-)
FVB/NJ MGP_FVBNJ_G0030282
 protein coding gene Chr6:24771455-24778401 (-)
LP/J MGP_LPJ_G0030415
 protein coding gene Chr6:26303937-26312316 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030318
 protein coding gene Chr6:30491735-30500248 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030977
 protein coding gene Chr6:25771380-25779264 (-)
PWK/PhJ MGP_PWKPhJ_G0029322
 protein coding gene Chr6:24548938-24555882 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029158
 protein coding gene Chr6:25468791-25475765 (-)
WSB/EiJ MGP_WSBEiJ_G0029684
 protein coding gene Chr6:25739476-25748469 (-)



Homology
more
  • Human Ortholog
    PAX4, paired box 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX4, paired box 4
  • Synonyms
    KPD, MODY9
  • Links
    NCBI Gene ID: 5078
    UniProt: O43316

  • Chr Location
    7q32.1; chr7:127610292-127618142 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human PAX4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 4 alleles in 6 genetic backgrounds
    26 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
    29
  • GO References
    10
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
    838
  • Tissues
    80
  • cDNA Data
    12
  • Literature Summary
    56
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18506 NCBI Gene Model | MGI Sequence Detail 7007 C57BL/6J ±  kb
    transcript NM_011038 RefSeq | MGI Sequence Detail 1378 Not Specified  
    polypeptide P32115 UniProt | EBI | MGI Sequence Detail 349 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 6
      cDNA 12
      Primer pair 9
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13147, MGD-MRK-13156
    References
    more
    • Summaries
      All 121
      Developmental Gene Expression 56
      Gene Ontology 10
      Phenotypes 26
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory