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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] See more...
Aliases for POGZ Gene
Aliases for POGZ Gene
External Ids for POGZ Gene
- HGNC: 18801
- Entrez Gene: 23126
- Ensembl: ENSG00000143442
- OMIM: 614787
- UniProtKB: Q7Z3K3
Previous GeneCards Identifiers for POGZ Gene
- GC01M149217
- GC01M147122
- GC01M148150
- GC01M148591
- GC01M148188
- GC01M149641
- GC01M122753
Summaries 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 Isolated Brachycephaly. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is POGK.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for POGZ Gene
- Monarch Initiative
- Search for POGZ at DataMed
- Search for POGZ at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POGZ Gene
Genomics for POGZ Gene
GeneHancer (GH) Regulatory Elements for POGZ Gene
Promoters and enhancers for POGZ Gene
- 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:
-
- ATF6
- Bach2
- c-Myb
- ER-alpha
- HNF-4alpha1
- HNF-4alpha2
- Nkx2-2
- RREB-1
- Sox5
- STAT1
Genomic Locations for POGZ Gene
Genomic Locations for POGZ Gene
- chr1:151,402,724-151,459,494
- (GRCh38/hg38)
- Size:
- 56,771 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:
-
- 1q21.3 by HGNC
- 1q21.3 by Entrez Gene
- 1q21.3 by Ensembl
POGZ Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for POGZ Gene
Post-translational modifications for POGZ Gene
Other Protein References for POGZ Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ POGZ Antibody
- Atlas Antibodies Anti-POGZ Antibody (HPA006800) and Anti-POGZ Antibody (HPA008781)
- Novus Biologicals Antibodies for POGZ
-
Abcam antibodies for POGZ
- Invitrogen Antibodies for POGZ (AFLGC-POGZ)
-
Biorbyt antibodies for POGZ
Protein Products
- Creative Biomart Recombinant Human POGZ cell lysate and Recombinant Human POGZ Protein, DDK-tagged
-
OriGene Purified Proteins for POGZ
- Search Origene for MassSpec and Protein Over-expression Lysates for POGZ
- Origene Custom Protein Services for POGZ
- antibodies-online: Show 3 available POGZ Proteins ranked by validation data
- Compare Top POGZ Proteins
-
Quality Products:
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
Protein Domains for POGZ Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for POGZ Gene
- GenScript: Design optimal peptide antigens:
-
- Pogo transposable element with ZNF domain (A6PW31_HUMAN)
- Zinc finger protein 635 (POGZ_HUMAN)
No data available for Graphical View of Domain Structure and 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 10976766 |
Phenotypes for POGZ Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for POGZ
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POGZ
- genomics-online: gRNA clones - Search for available POGZ gRNA products
- Overview of 122 available POGZ gene related products
- Applied Biological Materials (abm): CRISPR Clones for POGZ - Select products 50% OFF >
- * POGZ CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * POGZ CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for POGZ
miRNA for POGZ Gene
- miRTarBase miRNAs that target POGZ
-
- hsa-mir-130b-3p (MIRT020173)
- hsa-mir-9-5p (MIRT021320)
- hsa-mir-221-3p (MIRT024203)
- hsa-mir-34a-5p (MIRT025467)
- hsa-mir-19b-3p (MIRT031164)
- hsa-mir-324-3p (MIRT042912)
- hsa-mir-27b-3p (MIRT046218)
- hsa-mir-92a-3p (MIRT049685)
- hsa-mir-20a-5p (MIRT050579)
- hsa-mir-17-5p (MIRT050945)
- hsa-mir-212-5p (MIRT059588)
- hsa-mir-3153 (MIRT266593)
- hsa-mir-6733-5p (MIRT266594)
- hsa-mir-6739-5p (MIRT266595)
- hsa-mir-186-3p (MIRT470696)
- hsa-mir-580-5p (MIRT470697)
- hsa-mir-641 (MIRT470698)
- hsa-mir-3617-5p (MIRT470699)
- hsa-mir-2110 (MIRT485238)
- hsa-mir-432-3p (MIRT485239)
- hsa-mir-580-3p (MIRT485240)
- hsa-mir-6780b-5p (MIRT485241)
- hsa-mir-4694-5p (MIRT485242)
- hsa-mir-4725-3p (MIRT485243)
- hsa-mir-4271 (MIRT485244)
- hsa-mir-1193 (MIRT485245)
- hsa-mir-3134 (MIRT485246)
- hsa-mir-5681a (MIRT485247)
- hsa-mir-8057 (MIRT501540)
- hsa-mir-24-3p (MIRT501542)
- hsa-mir-4284 (MIRT501543)
- hsa-mir-4448 (MIRT501544)
- hsa-mir-3189-3p (MIRT501545)
- hsa-mir-6736-3p (MIRT501546)
- hsa-mir-6863 (MIRT501547)
- hsa-mir-6755-3p (MIRT547028)
- hsa-mir-548aw (MIRT547029)
- hsa-mir-513b-5p (MIRT547030)
- hsa-mir-19a-3p (MIRT547031)
- hsa-mir-1468-3p (MIRT547032)
- hsa-mir-548x-5p (MIRT547033)
- hsa-mir-548g-5p (MIRT547034)
- hsa-mir-548f-5p (MIRT547035)
- hsa-mir-548aj-5p (MIRT547036)
- hsa-mir-125b-2-3p (MIRT547037)
- hsa-mir-4457 (MIRT547038)
- hsa-mir-3613-3p (MIRT547039)
- hsa-mir-454-3p (MIRT547040)
- hsa-mir-3666 (MIRT547041)
- hsa-mir-4295 (MIRT547042)
- hsa-mir-301b-3p (MIRT547043)
- hsa-mir-301a-3p (MIRT547044)
- hsa-mir-130a-3p (MIRT547045)
- hsa-mir-519c-3p (MIRT547046)
- hsa-mir-519b-3p (MIRT547047)
- hsa-mir-519a-3p (MIRT547048)
- hsa-mir-4307 (MIRT555472)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for POGZ
- Browse OriGene Inhibitory RNA Products For POGZ
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGZ
- genomics-online: shRNA clones - Search for available POGZ shRNA products
- Overview of 122 available POGZ gene related products
Clone Products
-
- MG211973
- MG223339
- MR211973
- MR211973L3
- MR211973L3V
- MR211973L4
- MR211973L4V
- MR223339
- MR223339L3
- MR223339L3V
- MR223339L4
- MR223339L4V
- RC213385
- RC213385L3
- RC213385L3V
- RC213385L4
- RC213385L4V
- RC213989
- RC213989L3
- RC213989L3V
- RC213989L4
- RC213989L4V
- RC217850
- RC217850L3
- RC217850L3V
- RC217850L4
- RC217850L4V
- RC231483
- RC231483L3
- RC231483L3V
- RC231483L4
- RC231483L4V
- RC231484
- RC231484L3
- RC231484L3V
- RC231484L4
- RC231484L4V
- RG213385
- RG213989
- RG217850
- RG231483
- RG231484
- RR203448
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for POGZ
- Addgene plasmids for POGZ
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POGZ
- genomics-online: cdna clones - Search for available POGZ CDNA products
- Overview of 122 available POGZ gene related products
- orf clones - Search for available POGZ ORF products
- Overview of 122 available POGZ gene related products
- Applied Biological Materials (abm): Clones for POGZ - Select products 50% OFF >
- * POGZ as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * POGZ tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| plasma membrane | 0 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 20562864 |
| GO:0005634 | nucleus | IDA,IBA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0005737 | cytoplasm | IDA,IEA | 20562864 |
Pathways & Interactions for POGZ Gene
Interacting Proteins for POGZ Gene
Selected Interacting proteins:
Q7Z3K3-POGZ_HUMAN
ENSP00000271715
for POGZ Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for POGZ
| 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:0010468 | regulation of gene expression | IBA | 21873635 |
| GO:0051301 | cell division | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for POGZ Gene
Drugs & Compounds for POGZ Gene
No Compound Related Data Available
Drug Products
- Creative Biomart Recombinant Human POGZ cell lysate and Recombinant Human POGZ Protein, DDK-tagged
Transcripts for POGZ Gene
mRNA/cDNA for POGZ Gene
- (5) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (313) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000271715 6655 bps (ENST00000271715.6)
- ENST00000358476 6459 bps (ENST00000358476.7)
- ENST00000368863 6054 bps (ENST00000368863.6)
- ENST00000392723 6152 bps (ENST00000392723.5)
- ENST00000409503 4813 bps (ENST00000409503.5)
CRISPR Products
-
OriGene CRISPR knockouts for POGZ
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POGZ
- genomics-online: gRNA clones - Search for available POGZ gRNA products
- Overview of 122 available POGZ gene related products
- Applied Biological Materials (abm): CRISPR Clones for POGZ - Select products 50% OFF >
- * POGZ CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * POGZ CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for POGZ
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for POGZ
- Browse OriGene Inhibitory RNA Products For POGZ
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POGZ
- genomics-online: shRNA clones - Search for available POGZ shRNA products
- Overview of 122 available POGZ gene related products
Clone Products
-
- MG211973
- MG223339
- MR211973
- MR211973L3
- MR211973L3V
- MR211973L4
- MR211973L4V
- MR223339
- MR223339L3
- MR223339L3V
- MR223339L4
- MR223339L4V
- RC213385
- RC213385L3
- RC213385L3V
- RC213385L4
- RC213385L4V
- RC213989
- RC213989L3
- RC213989L3V
- RC213989L4
- RC213989L4V
- RC217850
- RC217850L3
- RC217850L3V
- RC217850L4
- RC217850L4V
- RC231483
- RC231483L3
- RC231483L3V
- RC231483L4
- RC231483L4V
- RC231484
- RC231484L3
- RC231484L3V
- RC231484L4
- RC231484L4V
- RG213385
- RG213989
- RG217850
- RG231483
- RG231484
- RR203448
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for POGZ
- Addgene plasmids for POGZ
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POGZ
- genomics-online: cdna clones - Search for available POGZ CDNA products
- Overview of 122 available POGZ gene related products
- orf clones - Search for available POGZ ORF products
- Overview of 122 available POGZ gene related products
- Applied Biological Materials (abm): Clones for POGZ - Select products 50% OFF >
- * POGZ as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * POGZ tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of POGZ Gene:
POGZSOURCE GeneReport for Unigene cluster for POGZ Gene:
Hs.489873Evidence 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
Primer Products
-
OriGene qPCR primer pairs for POGZ
- genomics-online: primer clones - Search for available POGZ Primer products
- Overview of 122 available POGZ gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POGZ 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POGZ 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pogz 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pogz 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POGZ 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | POGZ 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POGZ 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POGZ 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POGZ 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100158529 32 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.30774 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC561483 32 |
|
||
| pogza 33 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | row 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | F37D6.2 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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
Variants 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, intron_variant, non_coding_transcript_variant | |
| rs1057518799 | likely-pathogenic, Hearing impairment, Hypothyroidism, Intellectual disability, Myopia, Short metacarpal, Short stature, Truncal obesity | 151,430,716(-) | GATTGGCA/GATTGGCAGATTGGCA | 5_prime_UTR_variant, 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 | |
| rs1131692270 | likely-pathogenic, White-sutton syndrome | 151,412,327(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1135401798 | pathogenic, White-sutton syndrome | 151,411,741(-) | C/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POGZ Gene
Disorders for POGZ Gene
(18) MalaCards diseases for POGZ Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| white-sutton syndrome |
|
|
| isolated brachycephaly |
|
|
| macrostomia, isolated |
|
|
| nail disease |
|
|
| strabismus |
|
|
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
No data available for Genatlas for POGZ Gene
Publications for POGZ Gene
- 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 23 56
- 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 56
- POGZ truncating alleles cause syndromic intellectual disability. (PMID: 26739615) White J … Sutton VR (Genome medicine 2016) 3 4 56
- 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 43 56
- Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. (PMID: 20562864) Nozawa RS … Obuse C (Nature cell biology 2010) 3 4 56
ExternalLinks
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