POGZ

POGZ
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2E72, 2N3A
Identifiers
Aliases	POGZ, ZNF280E, ZNF635, ZNF635m, MRD37, WHSUS, pogo transposable element with ZNF domain, pogo transposable element derived with ZNF domain
External IDs	OMIM: 614787; MGI: 2442117; HomoloGene: 9022; GeneCards: POGZ; OMA:POGZ - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	151,459,494 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	94,789,637 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; right hemisphere of cerebellum; ; buccal mucosa cell; ; sural nerve; ; left ovary; ; pituitary gland; ; right ovary; ; anterior pituitary; ; ganglionic eminence; ; right lobe of thyroid gland;
	Top expressed in
	tail of embryo; ; Gonadal ridge; ; genital tubercle; ; otic vesicle; ; hand; ; Rostral migratory stream; ; cumulus cell; ; ciliary body; ; primitive streak; ; iris;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleic acid binding; DNA binding; protein binding; metal ion binding; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II core promoter sequence-specific DNA binding;
Cellular component	cytoplasm; chromosome; nucleus; nucleoplasm; cytosol; histone methyltransferase complex;
Biological process	kinetochore assembly; cell cycle; mitotic sister chromatid cohesion; cell division; regulation of transcription by RNA polymerase II; regulation of gene expression;
	Sources:Amigo / QuickGO
Orthologs
	23126
	229584
	ENSG00000143442
	ENSMUSG00000038902
	Q7Z3K3
	Q8BZH4
	NM_001194937; NM_001194938; NM_015100; NM_145796; NM_207171
	NM_001165948; NM_172683; NM_001368811; NM_001368812
	NP_001181866; NP_001181867; NP_055915; NP_665739; NP_997054
	NP_001159420; NP_766271; NP_001355740; NP_001355741
	Wikidata
View/Edit Human	View/Edit Mouse

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.⁵⁶

The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus.

This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.⁶

The CHAMP1 protein complex consisting of CHAMP1, POGZ and HPIα promotes heterochromatin assembly at multiple chromosomal sites, and also promotes homology-directed DNA repair of DNA double-strand breaks in these regions.⁷

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.⁸

References

GRCh38: Ensembl release 89: ENSG00000143442 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000038902 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Gunther M, Laithier M, Brison O (Dec 2000). "A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening". Mol Cell Biochem. 210 (1–2): 131–42. doi:10.1023/A:1007177623283. PMID 10976766. S2CID 1339642.
"Entrez Gene: POGZ pogo transposable element with ZNF domain".
Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD (February 2025). "CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair". Nat Commun. 16 (1): 1714. doi:10.1038/s41467-025-56834-6. PMC 11832927. PMID 39962076.
"OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

Further reading

Ohira M, Morohashi A, Nakamura Y, et al. (2003). "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma". Cancer Lett. 197 (1–2): 63–8. doi:10.1016/S0304-3835(03)00085-5. PMID 12880961.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143442 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000038902 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10976766-5] Gunther M, Laithier M, Brison O (Dec 2000). "A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening". Mol Cell Biochem. 210 (1–2): 131–42. doi:10.1023/A:1007177623283. PMID 10976766. S2CID 1339642.

[entrez-6] "Entrez Gene: POGZ pogo transposable element with ZNF domain".

[7] Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD (February 2025). "CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair". Nat Commun. 16 (1): 1714. doi:10.1038/s41467-025-56834-6. PMC 11832927. PMID 39962076.

[8] "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

1

2

3

4

5

6

7

8