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Pogz Gene Detail
Summary
  • Symbol
    Pogz
  • Name
    pogo transposable element with ZNF domain
  • Synonyms
    9530006B08Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442117
    NCBI Gene: 229584
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:94744878-94789637 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 40.74 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    936 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442117
 protein coding gene Chr3:94730289-94790888 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027560
 protein coding gene Chr3:95503266-95553383 (+)
A/J MGP_AJ_G0027517
 protein coding gene Chr3:92558133-92604626 (+)
AKR/J MGP_AKRJ_G0027486
 protein coding gene Chr3:94675731-94721415 (+)
BALB/cJ MGP_BALBcJ_G0027531
 protein coding gene Chr3:92295264-92340641 (+)
C3H/HeJ MGP_C3HHeJ_G0027264
 protein coding gene Chr3:94955849-95000879 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027978
 protein coding gene Chr3:99055874-99101049 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025319
 protein coding gene Chr3:88920549-88966375 (+)
CAST/EiJ MGP_CASTEiJ_G0026712
 protein coding gene Chr3:94252493-94302085 (+)
CBA/J MGP_CBAJ_G0027240
 protein coding gene Chr3:102622155-102668679 (+)
DBA/2J MGP_DBA2J_G0027378
 protein coding gene Chr3:91838513-91885743 (+)
FVB/NJ MGP_FVBNJ_G0027351
 protein coding gene Chr3:89943750-89972597 (+)
LP/J MGP_LPJ_G0027489
 protein coding gene Chr3:96778005-96823120 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027378
 protein coding gene Chr3:108793921-108839394 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028033
 protein coding gene Chr3:94347445-94393791 (+)
PWK/PhJ MGP_PWKPhJ_G0026442
 protein coding gene Chr3:91722959-91782209 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026261
 protein coding gene Chr3:92610162-92656714 (+)
WSB/EiJ MGP_WSBEiJ_G0026794
 protein coding gene Chr3:94719399-94767866 (+)



Homology
more
  • Human Ortholog
    POGZ, pogo transposable element derived with ZNF domain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POGZ, pogo transposable element derived with ZNF domain
  • Synonyms
    MRD37, WHSUS, ZNF280E, ZNF635, ZNF635m
  • Links
    NCBI Gene ID: 23126
    neXtProt AC: NX_Q7Z3K3
    UniProt: Q7Z3K3

  • Chr Location
    1q21.3; chr1:151402724-151459494 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pogz mouse models; 1 with human POGZ associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 2 alleles in 3 genetic backgrounds
    17 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 a null allele exhibit lethality during organogenesis, fetal development and preweaning associated with fetal liver hypoplasia, small fetus size and anemia. Homozygosity for the p.Q1038R mutation is embryonic lethal, while heterozygosity affects embryonic cortical neuronal development and leads to autism-spectrum-disorder-like behavior.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    4
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
    828
  • Tissues
    92
  • cDNA Data
    18
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038902 Ensembl Gene Model | MGI Sequence Detail 44760 C57BL/6J ±  kb
    transcript ENSMUST00000249403 Ensembl | MGI Sequence Detail 6399 Not Applicable  
    polypeptide ENSMUSP00000159753 Ensembl | MGI Sequence Detail 1425 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      8 Sequences
    • Protein Ontology
      PR:000030608 pogo transposable element with ZNF domain
      (term hierarchy)
    • InterPro Domains
      IPR004875 DDE superfamily endonuclease domain
      IPR009057 Homeobox-like domain superfamily
      IPR006600 HTH CenpB-type DNA-binding domain
      IPR050688 Zinc finger and ubiquitin peptidase domain-containing protein
      IPR036236 Zinc finger C2H2 superfamily
      IPR013087 Zinc finger C2H2-type
    • GlyGen
      Q8BZH4 21 sites, 1 O-linked glycan (21 sites)
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 19
      Primer pair 2
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2139865, MGI:2139915
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 4
      Phenotypes 17
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:335406 Heath J, et al., POGZ promotes homology-directed DNA repair in an HP1-dependent manner. EMBO Rep. 2022 Jan 5;23(1):e51041
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory