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
Gene location (Human) Chr. Chromosome 1 (human) Band 1q21.3 Start 151,402,724 bp End 151,459,494 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 F2.1 Start 94,744,878 bp End 94,789,637 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube sural nerve pituitary gland anterior pituitary ganglionic eminence right lobe of thyroid gland left lobe of thyroid gland corpus callosum tibia external globus pallidus Top expressed in hand cumulus cell ciliary body primitive streak iris otolith organ utricle retinal pigment epithelium conjunctival fornix pineal gland More reference expression data BioGPS 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 Species Human Mouse Entrez 23126 229584 Ensembl ENSG00000143442 ENSMUSG00000038902 UniProt Q7Z3K3 Q8BZH4 RefSeq (mRNA) NM_001194937 NM_001194938 NM_015100 NM_145796 NM_207171 NM_001165948 NM_172683 NM_001368811 NM_001368812 RefSeq (protein) NP_001181866 NP_001181867 NP_055915 NP_665739 NP_997054 NP_001159420 NP_766271 NP_001355740 NP_001355741 Location (UCSC) Chr 1: 151.4 – 151.46 Mb Chr 3: 94.74 – 94.79 Mb PubMed search
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.

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.

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.

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.