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POGZ

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POGZ
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPOGZ, ZNF280E, ZNF635, ZNF635m, MRD37, WHSUS, pogo transposable element with ZNF domain, pogo transposable element derived with ZNF domain
External IDsOMIM: 614787; MGI: 2442117; HomoloGene: 9022; GeneCards: POGZ; OMA:POGZ - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 3: 94.74 – 94.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.[5][6]

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]

Clinical significance

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Heterozygous mutation of POGZ causes White-Sutton syndrome.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143442Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038902Ensembl, 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.
  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.
  6. ^ a b "Entrez Gene: POGZ pogo transposable element with ZNF domain".
  7. ^ "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

Further reading

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