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    Pogz pogo transposable element with ZNF domain [ Mus musculus (house mouse) ]

    Gene ID: 229584, updated on 2-Apr-2024

    Summary

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    Official Symbol
    Pogzprovided by MGI
    Official Full Name
    pogo transposable element with ZNF domainprovided by MGI
    Primary source
    MGI:MGI:2442117
    See related
    Ensembl:ENSMUSG00000038902 AllianceGenome:MGI:2442117
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    9530006B08Rik
    Summary
    Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be involved in kinetochore assembly; mitotic sister chromatid cohesion; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within cell division. Predicted to be located in chromatin; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in brain; early conceptus; and genitourinary system. Human ortholog(s) of this gene implicated in White-Sutton syndrome. Orthologous to human POGZ (pogo transposable element derived with ZNF domain). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 13.7), CNS E14 (RPKM 13.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    3 F2.1; 3 40.74 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (94730289..94790888)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (94822989..94883577)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52626 Neighboring gene cingulin Neighboring gene STARR-positive B cell enhancer ABC_E3448 Neighboring gene STARR-seq mESC enhancer starr_08357 Neighboring gene predicted gene, 40094 Neighboring gene STARR-positive B cell enhancer mm9_chr3:94641125-94641426 Neighboring gene special AT-rich sequence binding protein 1 pseudogene Neighboring gene proteasome (prosome, macropain) subunit, beta type 4 Neighboring gene predicted gene, 36237 Neighboring gene predicted gene, 26279

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz. Cunniff MM, et al. Elife, 2020 Nov 6. PMID 33155545, Free PMC Article
    2. A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders. Conrow-Graham M, et al. Brain, 2022 Sep 14. PMID 35775424, Free PMC Article
    3. POGZ promotes homology-directed DNA repair in an HP1-dependent manner. Heath J, et al. EMBO Rep, 2022 Jan 5. PMID 34758190, Free PMC Article
    4. Expression Analyses of POGZ, A Responsible Gene for Neurodevelopmental Disorders, during Mouse Brain Development. Ibaraki K, et al. Dev Neurosci, 2019. PMID 31430754
    5. Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. Matsumura K, et al. Nat Commun, 2020 Feb 26. PMID 32103003, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain.
      Title: Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain.
    2. POGZ suppresses 2C transcriptional program and retrotransposable elements.
      Title: POGZ suppresses 2C transcriptional program and retrotransposable elements.
    3. A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders.
      Title: A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders.
    4. POGZ promotes homology-directed DNA repair in an HP1-dependent manner.
      Title: POGZ promotes homology-directed DNA repair in an HP1-dependent manner.
    5. Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
      Title: Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
    6. Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz.
      Title: Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz.
    7. Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice.
      Title: Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice.
    8. Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome. Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
      Title: Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
    9. results suggest that POGZ takes part in the regulation of synaptic function as well as gene expression during brain development
      Title: Expression Analyses of POGZ, A Responsible Gene for Neurodevelopmental Disorders, during Mouse Brain Development.
    10. POGZ is essential for normal embryonic development and that loss of the gene leads to deregulation of embryonic globin expression, in part through Bcl11a.
      Title: POGZ Is Required for Silencing Mouse Embryonic β-like Hemoglobin and Human Fetal Hemoglobin Expression.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within_positive_effect double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in kinetochore assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    pogo transposable element with ZNF domain

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001165948.2 → NP_001159420.1  pogo transposable element with ZNF domain isoform 2

      See identical proteins and their annotated locations for NP_001159420.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC087062, AC087903
      Consensus CDS
      CCDS50985.1
      UniProtKB/TrEMBL
      Q0VGT3, Q3TSQ2
      Related
      ENSMUSP00000037523.6, ENSMUST00000042402.12
      Conserved Domains (4) summary
      smart00674
      Location:1008 → 1069
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:520 → 541
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:484 → 517
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:1143 → 1267
      rve; Integrase core domain

    2. NM_001368811.1 → NP_001355740.1  pogo transposable element with ZNF domain isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087062, AC087903
      UniProtKB/TrEMBL
      D3YUW8
      Conserved Domains (5) summary
      smart00674
      Location:911 → 972
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      PHA03247
      Location:737 → 848
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:423 → 444
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:387 → 420
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:1046 → 1170
      rve; Integrase core domain

    3. NM_001368812.1 → NP_001355741.1  pogo transposable element with ZNF domain isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087062, AC087903
      UniProtKB/TrEMBL
      D3YUW8
      Conserved Domains (5) summary
      smart00674
      Location:858 → 919
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      PHA03247
      Location:684 → 795
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:370 → 391
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:334 → 367
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:993 → 1117
      rve; Integrase core domain

    4. NM_172683.4 → NP_766271.2  pogo transposable element with ZNF domain isoform 1

      See identical proteins and their annotated locations for NP_766271.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC087062, AC087903
      Consensus CDS
      CCDS17596.1
      UniProtKB/Swiss-Prot
      Q4VA94, Q80TZ8, Q8BZH4, Q8C0K1, Q8K294
      UniProtKB/TrEMBL
      B9EIG6, Q3TSQ2
      Related
      ENSMUSP00000102891.3, ENSMUST00000107270.9
      Conserved Domains (5) summary
      smart00674
      Location:1017 → 1078
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      PHA03247
      Location:843 → 954
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:529 → 550
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:493 → 526
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:1158 → 1269
      rve; Integrase core domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      94730289..94790888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240090.4 → XP_011238392.1  pogo transposable element with ZNF domain isoform X1

      See identical proteins and their annotated locations for XP_011238392.1

      UniProtKB/Swiss-Prot
      Q4VA94, Q80TZ8, Q8BZH4, Q8C0K1, Q8K294
      UniProtKB/TrEMBL
      B9EIG6, Q3TSQ2
      Related
      ENSMUSP00000102890.2, ENSMUST00000107269.2
      Conserved Domains (5) summary
      smart00674
      Location:1017 → 1078
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      PHA03247
      Location:843 → 954
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:529 → 550
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:493 → 526
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:1158 → 1269
      rve; Integrase core domain

    2. XM_006501362.2 → XP_006501425.1  pogo transposable element with ZNF domain isoform X2

      UniProtKB/TrEMBL
      D3YUX1, Q3TSQ2
      Related
      ENSMUSP00000102887.2, ENSMUST00000107266.8
      Conserved Domains (5) summary
      smart00674
      Location:964 → 1025
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      PHA03247
      Location:790 → 901
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:476 → 497
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:440 → 473
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:1105 → 1216
      rve; Integrase core domain

    3. XM_006501363.2 → XP_006501426.1  pogo transposable element with ZNF domain isoform X3

      UniProtKB/TrEMBL
      Q3TSQ2
      Conserved Domains (5) summary
      smart00674
      Location:955 → 1016
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      PHA03247
      Location:781 → 892
      PHA03247; large tegument protein UL36; Provisional
      sd00017
      Location:467 → 488
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:431 → 464
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:1096 → 1207
      rve; Integrase core domain

    4. XM_036163056.1 → XP_036018949.1  pogo transposable element with ZNF domain isoform X4

      Conserved Domains (4) summary
      PLN03209
      Location:322 → 425
      PLN03209; translocon at the inner envelope of chloroplast subunit 62; Provisional
      smart00674
      Location:467 → 528
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      sd00017
      Location:9 → 30
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl21549
      Location:608 → 719
      rve; Integrase core domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZH4.2 GenPept UniProtKB/Swiss-Prot:Q8BZH4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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