Human Gene POGZ (ENST00000271715.7_13) from GENCODE V47lift37
  Description: pogo transposable element derived with ZNF domain, transcript variant 1 (from RefSeq NM_015100.4)
Gencode Transcript: ENST00000271715.7_13
Gencode Gene: ENSG00000143442.24_18
Transcript (Including UTRs)
   Position: hg19 chr1:151,375,200-151,431,970 Size: 56,771 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr1:151,377,278-151,414,680 Size: 37,403 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:151,375,200-151,431,970)mRNA (may differ from genome)Protein (1410 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
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-  Comments and Description Text from UniProtKB
  ID: POGZ_HUMAN
DESCRIPTION: RecName: Full=Pogo transposable element with ZNF domain; AltName: Full=Suppressor of hairy wing homolog 5; AltName: Full=Zinc finger protein 280E; AltName: Full=Zinc finger protein 635;
FUNCTION: Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion. Probably through its association with CBX5 plays a role in mitotic chromosome segregation by regulating aurora kinase B/AURKB activation and AURKB and CBX5 dissociation from chromosome arms.
SUBUNIT: Interacts with CBX1, CBX3, MAD2L2 and CHAMP1. Interacts with CBX5; POGZ competes with PXVXL motif-containing proteins such as INCENP and TRIM28 for interaction with CBX5. Interacts with PSIP1 isoform 1.
INTERACTION: P45973:CBX5; NbExp=5; IntAct=EBI-1389308, EBI-78219; P08047:SP1; NbExp=2; IntAct=EBI-1389308, EBI-298336;
SUBCELLULAR LOCATION: Nucleus. Chromosome. Cytoplasm. Note=According to some authors, it is not localized to mitotic chromatin (PubMed:19244240). Recruited to trimethylated 'Lys-9' of histone H3 (H3K9me3).
SIMILARITY: Contains 9 C2H2-type zinc fingers.
SIMILARITY: Contains 1 DDE domain.
SIMILARITY: Contains 1 HTH CENPB-type DNA-binding domain.
SEQUENCE CAUTION: Sequence=BAE45744.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI16808.2; Type=Erroneous gene model prediction; Sequence=CAI16810.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POGZ
Diseases sorted by gene-association score: white-sutton syndrome* (1369), syndromic intellectual disability (11), mental retardation and microcephaly with pontine and cerebellar hypoplasia (10), mowat-wilson syndrome (7), glycine encephalopathy (4), autism spectrum disorder (3), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.98 RPKM in Brain - Cerebellum
Total median expression: 1030.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -144.00344-0.419 Picture PostScript Text
3' UTR -550.002078-0.265 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004875 - DDE_SF_endonuclease_CENPB-like
IPR009057 - Homeodomain-like
IPR006600 - HTH_CenpB_DNA-bd_dom
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like

Pfam Domains:
PF03184 - DDE superfamily endonuclease
PF03221 - Tc5 transposase DNA-binding domain

SCOP Domains:
46689 - Homeodomain-like
57667 - beta-beta-alpha zinc fingers

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E72 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q7Z3K3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007049 cell cycle
GO:0007064 mitotic sister chromatid cohesion
GO:0051301 cell division
GO:0051382 kinetochore assembly

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB007930 - Homo sapiens mRNA for KIAA0461 perotein, partial cds.
BX649163 - Homo sapiens mRNA; cDNA DKFZp686A113 (from clone DKFZp686A113).
BX537838 - Homo sapiens mRNA; cDNA DKFZp686O0793 (from clone DKFZp686O0793); complete cds.
BX537561 - Homo sapiens mRNA; cDNA DKFZp686C0969 (from clone DKFZp686C0969).
AB037911 - Homo sapiens Nbla00003 mRNA, complete cds.
AB075477 - Homo sapiens neuroblastoma cDNA, clone:Nbla00003, full insert sequence.
AK302501 - Homo sapiens cDNA FLJ60970 complete cds, highly similar to Pogo transposable element with ZNF domain.
AK299791 - Homo sapiens cDNA FLJ53515 complete cds, highly similar to Pogo transposable element with ZNF domain.
AK300307 - Homo sapiens cDNA FLJ61395 complete cds, highly similar to Pogo transposable element with ZNF domain.
BC166671 - Synthetic construct Homo sapiens clone IMAGE:100066397, MGC:195534 pogo transposable element with ZNF domain (POGZ) mRNA, encodes complete protein.
AB463182 - Synthetic construct DNA, clone: pF1KA0461, Homo sapiens POGZ gene for pogo transposable element with ZNF domain, without stop codon, in Flexi system.
AM392919 - Synthetic construct Homo sapiens clone IMAGE:100002366 for hypothetical protein (POGZ gene).
AJ242979 - Homo sapiens partial mRNA for KIAA0461/245 protein.
BC042018 - Homo sapiens pogo transposable element with ZNF domain, mRNA (cDNA clone IMAGE:5312053).
JD234989 - Sequence 216013 from Patent EP1572962.
JD074022 - Sequence 55046 from Patent EP1572962.
JD182765 - Sequence 163789 from Patent EP1572962.
JD154534 - Sequence 135558 from Patent EP1572962.
JD145212 - Sequence 126236 from Patent EP1572962.
JD433585 - Sequence 414609 from Patent EP1572962.
JD372366 - Sequence 353390 from Patent EP1572962.
JD377025 - Sequence 358049 from Patent EP1572962.
JD102268 - Sequence 83292 from Patent EP1572962.
JD516726 - Sequence 497750 from Patent EP1572962.
JD499065 - Sequence 480089 from Patent EP1572962.
JD349300 - Sequence 330324 from Patent EP1572962.
JD496368 - Sequence 477392 from Patent EP1572962.
JD451137 - Sequence 432161 from Patent EP1572962.
JD354374 - Sequence 335398 from Patent EP1572962.
JD528697 - Sequence 509721 from Patent EP1572962.
JD155000 - Sequence 136024 from Patent EP1572962.
JD524302 - Sequence 505326 from Patent EP1572962.
JD548684 - Sequence 529708 from Patent EP1572962.
JD184495 - Sequence 165519 from Patent EP1572962.
JD303769 - Sequence 284793 from Patent EP1572962.
JD213984 - Sequence 195008 from Patent EP1572962.
JD082255 - Sequence 63279 from Patent EP1572962.
JD563932 - Sequence 544956 from Patent EP1572962.
JD551135 - Sequence 532159 from Patent EP1572962.
JD532078 - Sequence 513102 from Patent EP1572962.
DQ573480 - Homo sapiens piRNA piR-41592, complete sequence.
AK000199 - Homo sapiens cDNA FLJ20192 fis, clone COLF0778, highly similar to AB007930 Homo sapiens mRNA for KIAA0461 perotein.
BC057773 - Homo sapiens pogo transposable element with ZNF domain, mRNA (cDNA clone IMAGE:30343070), complete cds.
KJ902287 - Synthetic construct Homo sapiens clone ccsbBroadEn_11681 POGZ gene, encodes complete protein.
CU691222 - Synthetic construct Homo sapiens gateway clone IMAGE:100021134 5' read POGZ mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DTP8, B4DYL9, B7ZBY5, E9PM80, ENST00000271715.1, ENST00000271715.2, ENST00000271715.3, ENST00000271715.4, ENST00000271715.5, ENST00000271715.6, KIAA0461, Nbla00003, NM_015100, O75049, POGZ_HUMAN, Q3LIC4, Q5SZS1, Q5SZS2, Q5SZS3, Q5SZS4, Q7Z3K3, Q8TDZ7, Q9Y4X7, SUHW5, uc317iwr.1, uc317iwr.2, ZNF280E, ZNF635
UCSC ID: ENST00000271715.7_13
RefSeq Accession: NM_015100.4
Protein: Q7Z3K3 (aka POGZ_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene POGZ:
cdh-ov (Congenital Diaphragmatic Hernia Overview)
white-sutton (White-Sutton Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.