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

Summary

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 with a positive effect on double-strand break repair via homologous recombination. Predicted to be located in chromatin; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; early conceptus; genitourinary system; hemolymphoid system; and liver. Used to study autism spectrum disorder. 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, Nov 2024]
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

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_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
POGZ suppresses 2C transcriptional program and retrotransposable elements.
Title: POGZ suppresses 2C transcriptional program and retrotransposable elements.
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.
POGZ promotes homology-directed DNA repair in an HP1-dependent manner.
Title: POGZ promotes homology-directed DNA repair in an HP1-dependent manner.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (5) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD10327 (e-PCR)
- UniSTS:291366

stSG627185 (e-PCR)
- UniSTS:457271

AU044539 (e-PCR)
- UniSTS:159145

AU015913 (e-PCR)
- UniSTS:207534

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

Process	Evidence Code	Pubs
involved_in 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
acts_upstream_of_or_within_positive_effect double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in kinetochore assembly	ISO Inferred from Sequence Orthology more info
involved_in kinetochore assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic sister chromatid cohesion	ISO Inferred from Sequence Orthology more info
involved_in mitotic sister chromatid cohesion	ISS Inferred from Sequence or Structural Similarity 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
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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)

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
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
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
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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

94730289..94790888

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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