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Aliases for POGZ Gene

Aliases for POGZ Gene

  • Pogo Transposable Element Derived With ZNF Domain 2 3 5
  • Zinc Finger Protein 280E 2 3 4
  • Pogo Transposable Element With ZNF Domain 2 3
  • Putative Protein Product Of Nbla00003 2 3
  • Zinc Finger Protein 635 3 4
  • ZNF280E 3 4
  • ZNF635 3 4
  • Suppressor Of Hairy Wing Homolog 5 4
  • KIAA0461 4
  • ZNF635m 3
  • MRD37 3
  • WHSUS 3
  • SUHW5 4

External Ids for POGZ Gene

Previous GeneCards Identifiers for POGZ Gene

  • GC01M149217
  • GC01M147122
  • GC01M148150
  • GC01M148591
  • GC01M148188
  • GC01M149641
  • GC01M122753

Summaries for POGZ Gene

Entrez Gene Summary for 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. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]

GeneCards Summary for POGZ Gene

POGZ (Pogo Transposable Element Derived With ZNF Domain) is a Protein Coding gene. Diseases associated with POGZ include White-Sutton Syndrome and Macrostomia, Isolated. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF280D.

UniProtKB/Swiss-Prot for POGZ Gene

  • 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.

Gene Wiki entry for POGZ Gene

Additional gene information for POGZ Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POGZ Gene

Genomics for POGZ Gene

GeneHancer (GH) Regulatory Elements for POGZ Gene

Promoters and enhancers for POGZ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J151456 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 690.4 +1.0 1009 3.6 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B POGZ SETDB1 ZNF687 PIP5K1A PI4KB UBE2D3P3 GABPB2 ARNT SELENBP1 GOLPH3L
GH01J151940 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 172.5 -484.6 -484633 7.6 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B ZNF416 FOS POGZ GABPB2 PI4KB MRPL9 PIP5K1A LYSMD1 ENSG00000229021 HRNR THEM4 C1orf56
GH01J151068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 37.5 +389.0 388979 3.3 CLOCK FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GABPB2 CDC42SE1 SETDB1 PRPF3 PI4KB PIP5K1A MRPL9 UBE2D3P3 ARNT ZNF687
GH01J151908 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 37.1 -450.0 -449984 2.4 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC ZNF610 THEM4 GABPB2 PI4KB MRPL9 POGZ SETDB1 PIP5K1A ZNF687 C1orf56 TDRKH
GH01J150626 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24.4 +830.1 830094 4.9 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ENSA GC01P150630 SETDB1 PIP5K1A PRPF3 ARNT UBE2D3P3 PI4KB SF3B4 HORMAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POGZ on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POGZ gene promoter:
  • STAT1
  • ATF6
  • ER-alpha
  • HNF-4alpha2
  • HNF-4alpha1
  • Nkx2-2
  • c-Myb
  • RREB-1
  • Sox5
  • Bach2

Genomic Locations for POGZ Gene

Genomic Locations for POGZ Gene
chr1:151,402,724-151,459,465
(GRCh38/hg38)
Size:
56,742 bases
Orientation:
Minus strand
chr1:151,375,200-151,431,941
(GRCh37/hg19)
Size:
56,742 bases
Orientation:
Minus strand

Genomic View for POGZ Gene

Genes around POGZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POGZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POGZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POGZ Gene

Proteins for POGZ Gene

  • Protein details for POGZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3K3-POGZ_HUMAN
    Recommended name:
    Pogo transposable element with ZNF domain
    Protein Accession:
    Q7Z3K3
    Secondary Accessions:
    • B4DTP8
    • B4DYL9
    • B7ZBY5
    • E9PM80
    • O75049
    • Q3LIC4
    • Q5SZS1
    • Q5SZS2
    • Q5SZS3
    • Q5SZS4
    • Q8TDZ7
    • Q9Y4X7

    Protein attributes for POGZ Gene

    Size:
    1410 amino acids
    Molecular mass:
    155344 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAE45744.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI16808.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16810.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POGZ Gene

    Alternative splice isoforms for POGZ Gene

neXtProt entry for POGZ Gene

Post-translational modifications for POGZ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POGZ Gene

Domains & Families for POGZ Gene

Gene Families for POGZ Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for POGZ Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with POGZ: view

No data available for UniProtKB/Swiss-Prot for POGZ Gene

Function for POGZ Gene

Molecular function for POGZ Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for POGZ Gene

Gene Ontology (GO) - Molecular Function for POGZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 10976766
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POGZ: view
genes like me logo Genes that share phenotypes with POGZ: view

Human Phenotype Ontology for POGZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for POGZ Gene

miRTarBase miRNAs that target POGZ

Clone Products

  • Addgene plasmids for POGZ

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for POGZ Gene

Localization for POGZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for POGZ Gene

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). {ECO:0000269 PubMed:19244240}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POGZ gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POGZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20562864
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA,IDA 20562864
genes like me logo Genes that share ontologies with POGZ: view

Pathways & Interactions for POGZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for POGZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007049 cell cycle IEA --
GO:0007064 mitotic sister chromatid cohesion IMP 20562864
GO:0051301 cell division IEA --
GO:0051382 kinetochore assembly IMP 20562864
genes like me logo Genes that share ontologies with POGZ: view

No data available for Pathways by source and SIGNOR curated interactions for POGZ Gene

Drugs & Compounds for POGZ Gene

No Compound Related Data Available

Transcripts for POGZ Gene

Unigene Clusters for POGZ Gene

Pogo transposable element with ZNF domain:
Representative Sequences:

Clone Products

  • Addgene plasmids for POGZ

Alternative Splicing Database (ASD) splice patterns (SP) for POGZ Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - -
SP5: - -
SP6: - - - -
SP7: -
SP8: - -
SP9: - -
SP10:
SP11: -
SP12:
SP13:

ExUns: 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for POGZ Gene

GeneLoc Exon Structure for
POGZ
ECgene alternative splicing isoforms for
POGZ

Expression for POGZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POGZ Gene

Protein differential expression in normal tissues from HIPED for POGZ Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.8), Blymphocyte (9.2), CD8 Tcells (7.6), and Fetal Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POGZ Gene



Protein tissue co-expression partners for POGZ Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POGZ Gene:

POGZ

SOURCE GeneReport for Unigene cluster for POGZ Gene:

Hs.489873

Evidence on tissue expression from TISSUES for POGZ Gene

  • Nervous system(4.8)
  • Eye(4.3)
  • Intestine(4.3)
  • Liver(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POGZ Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • outer ear
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with POGZ: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for POGZ Gene

Orthologs for POGZ Gene

This gene was present in the common ancestor of animals.

Orthologs for POGZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POGZ 34 33
  • 99.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POGZ 34 33
  • 93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pogz 16 34 33
  • 89.57 (n)
rat
(Rattus norvegicus)
Mammalia Pogz 33
  • 88.57 (n)
oppossum
(Monodelphis domestica)
Mammalia POGZ 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POGZ 34 33
  • 87.14 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POGZ 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves POGZ 34 33
  • 74.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POGZ 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100158529 33
  • 65.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30774 33
zebrafish
(Danio rerio)
Actinopterygii LOC561483 33
  • 52.91 (n)
pogza 34
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta row 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F37D6.2 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Species where no ortholog for POGZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POGZ Gene

ENSEMBL:
Gene Tree for POGZ (if available)
TreeFam:
Gene Tree for POGZ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POGZ: view image

Paralogs for POGZ Gene

Paralogs for POGZ Gene

(3) SIMAP similar genes for POGZ Gene using alignment to 8 proteins:

  • POGZ_HUMAN
  • A6PW30_HUMAN
  • E9PIR8_HUMAN
  • E9PJY9_HUMAN
  • F5H8H4_HUMAN
  • H0YCT3_HUMAN
  • H7C238_HUMAN
  • M0R2X2_HUMAN
genes like me logo Genes that share paralogs with POGZ: view

Variants for POGZ Gene

Sequence variations from dbSNP and Humsavar for POGZ Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057518170 pathogenic, uncertain-significance, not provided, dysmorphy, intellectual deficiency 151,424,959(-) AT/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057518799 likely-pathogenic, Hearing impairment, Hypothyroidism, Intellectual disability, Myopia, Short metacarpal, Short stature, Truncal obesity 151,430,716(-) GATTGGCA/GATTGGCAGATTGGCA coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs1057519392 likely-pathogenic, White-sutton syndrome 151,412,348(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs756659230 pathogenic, White-sutton syndrome 151,406,445(-) G/A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs864321667 pathogenic, White-sutton syndrome 151,405,681(-) GGG/GG coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for POGZ Gene

Variant ID Type Subtype PubMed ID
dgv36n27 CNV gain 19166990
dgv53e214 CNV gain 21293372
dgv564n54 CNV gain 21841781
esv2674265 CNV deletion 23128226
esv2717862 CNV deletion 23290073
esv2758969 CNV gain 17122850
esv34461 CNV gain 17911159
esv3587525 CNV gain 21293372
esv3587526 CNV loss 21293372
esv3587528 CNV loss 21293372
esv3587529 CNV loss 21293372
esv3890638 CNV gain 25118596
esv3894200 CNV gain 25118596
nsv1078957 CNV deletion 25765185
nsv1121782 CNV deletion 24896259
nsv1161560 CNV duplication 26073780
nsv2832 CNV insertion 18451855
nsv441714 CNV gain 18776908
nsv470737 CNV gain 18288195
nsv478069 CNV novel sequence insertion 20440878
nsv818467 CNV gain 17921354
nsv824575 CNV gain 20364138
nsv824587 CNV loss 20364138
nsv831581 CNV loss 17160897
nsv8380 CNV gain 18304495
nsv952165 CNV deletion 24416366

Variation tolerance for POGZ Gene

Residual Variation Intolerance Score: 2.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.25; 52.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POGZ Gene

Human Gene Mutation Database (HGMD)
POGZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POGZ

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POGZ Gene

Disorders for POGZ Gene

MalaCards: The human disease database

(15) MalaCards diseases for POGZ Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
white-sutton syndrome
  • whsus
isolated brachycephaly
  • non-syndromic bicoronal synostosis
macrostomia, isolated
  • lateral cleft, isolated
nail disease
  • abnormality of the nail
sensorineural hearing loss
  • central hearing loss
- elite association - COSMIC cancer census association via MalaCards
Search POGZ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POGZ_HUMAN
  • Note=Defects in POGZ may be associated with neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). {ECO:0000269 PubMed:25694107}.
  • White-Sutton syndrome (WHSUS) [MIM:616364]: A mental retardation syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss. {ECO:0000269 PubMed:25533962, ECO:0000269 PubMed:26739615}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POGZ

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POGZ: view

No data available for Genatlas for POGZ Gene

Publications for POGZ Gene

  1. Lens epithelium-derived growth factor/p75 interacts with the transposase-derived DDE domain of PogZ. (PMID: 19244240) Bartholomeeusen K … De Rijck J (The Journal of biological chemistry 2009) 3 4 22 58
  2. A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening. (PMID: 10976766) Gunther M … Brison O (Molecular and cellular biochemistry 2000) 2 3 4 58
  3. POGZ truncating alleles cause syndromic intellectual disability. (PMID: 26739615) White J … Sutton VR (Genome medicine 2016) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M … Mann M (Cell 2010) 3 4 58

Products for POGZ Gene

Sources for POGZ Gene