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Paxx Gene Detail
Summary
  • Symbol
    Paxx
  • Name
    non-homologous end joining factor
  • Synonyms
    BC029214, D930050G13Rik, paralog of XRCC4 and XLF
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442831
    NCBI Gene: 227622
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:25455141-25461094 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 17.27 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    96 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442831
protein coding gene Chr2:25455120-25462654 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025447
protein coding gene Chr2:23343658-23349611 (-)
A/J MGP_AJ_G0025424
protein coding gene Chr2:22440918-22446874 (-)
AKR/J MGP_AKRJ_G0025394
protein coding gene Chr2:23187725-23193681 (-)
BALB/cJ MGP_BALBcJ_G0025420
protein coding gene Chr2:22552476-22558429 (-)
C3H/HeJ MGP_C3HHeJ_G0025181
protein coding gene Chr2:23136210-23142163 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025864
protein coding gene Chr2:24089997-24095950 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023275
protein coding gene Chr2:21351154-21357094 (-)
CAST/EiJ MGP_CASTEiJ_G0024644
protein coding gene Chr2:23006057-23012019 (-)
CBA/J MGP_CBAJ_G0025159
protein coding gene Chr2:24923551-24929504 (-)
DBA/2J MGP_DBA2J_G0025292
protein coding gene Chr2:22278606-22284562 (-)
FVB/NJ MGP_FVBNJ_G0025254
protein coding gene Chr2:22023165-22029118 (-)
LP/J MGP_LPJ_G0025378
protein coding gene Chr2:23284923-23290876 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025285
protein coding gene Chr2:25119015-25124971 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025923
protein coding gene Chr2:23142576-23148529 (-)
PWK/PhJ MGP_PWKPhJ_G0024392
protein coding gene Chr2:22100407-22106359 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024192
protein coding gene Chr2:23283501-23289458 (-)
WSB/EiJ MGP_WSBEiJ_G0024713
protein coding gene Chr2:23219058-23225014 (-)



Homology
more
  • Human Ortholog
    PAXX, PAXX non-homologous end joining factor
  • Vertebrate Orthologs
    6
  • Human Ortholog
    PAXX, PAXX non-homologous end joining factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C9orf142, XLS
  • Links
    NCBI Gene ID: 286257
    neXtProt AC: NX_Q9BUH6
    UniProt: Q9BUH6

  • Chr Location
    9q34.3; chr9:136992418-136993976 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    21 phenotypes from multigenic genotypes
    4 images
    7 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.
Mice homozygous for a knock-out allele are viable, developmentally normal and fertile but show increased mortality induced by ionizing radiation and a mild reduction in splenic lymphocyte numbers.
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 population 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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047617 Ensembl Gene Model | MGI Sequence Detail 5954 C57BL/6J ±  kb
    transcript ENSMUST00000114261 Ensembl | MGI Sequence Detail 981 Not Applicable  
    polypeptide ENSMUSP00000109899 Ensembl | MGI Sequence Detail 205 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR027873 Protein PAXX
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 44

      Microarray probesets 5
    References
    more
    • Summaries
      All 27
      Developmental Gene Expression 2
      Gene Ontology 3
      Phenotypes 7
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:274050 Abramowski V, et al., PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice. Cell Death Differ. 2018 Feb;25(2):444-452

    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)
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    Funding Information
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    last database update
    12/03/2019
    MGI 6.14
    The Jackson Laboratory