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

Gene ID: 229584, updated on 12-May-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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See Pogz in Genome Data Viewer
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.
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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

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