POGZ: Difference between revisions

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| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: POGZ pogo transposable element with ZNF domain| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23126| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: POGZ pogo transposable element with ZNF domain| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23126| accessdate = }}</ref>
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==Clinical significance==
Heterozygous mutation of POGZ causes [[White-Sutton syndrome]].<ref>{{Cite web|url=https://www.omim.org/entry/616364|title=OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS|website=www.omim.org|language=en-us|access-date=2018-11-23}}</ref>


==References==
==References==

Latest revision as of 18:44, 23 November 2018

For the person, see Pogz Ortile.
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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.[1][2]

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.[2]

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.[3]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: POGZ pogo transposable element with ZNF domain".
  3. ↑ "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

Further reading



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