Gene Gene information from NCBI Gene database.
Entrez ID 23126
Gene name Pogo transposable element derived with ZNF domain
Gene symbol POGZ
Synonyms (NCBI Gene)
MRD37WHSUSZNF280EZNF635ZNF635m
Chromosome 1
Chromosome location 1q21.3
Summary 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 var
SNPs SNP information provided by dbSNP.
67
SNP ID Visualize variation Clinical significance Consequence
rs367963956 G>A,C Likely-pathogenic Intron variant
rs756659230 G>A,C,T Pathogenic Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, missense variant
rs773311942 G>A,C Likely-pathogenic Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs796052215 T>- Likely-pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs796052216 ->G Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
655
miRTarBase ID miRNA Experiments Reference
MIRT020173 hsa-miR-130b-3p Sequencing 20371350
MIRT021320 hsa-miR-9-5p Microarray 17612493
MIRT024203 hsa-miR-221-3p Sequencing 20371350
MIRT025467 hsa-miR-34a-5p Sequencing 20371350
MIRT031164 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IMP 26721387
GO:0000785 Component Chromatin IDA 20562864
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 10976766, 19498464, 20562864, 20850016, 24981860, 25082813, 25416956, 26721387, 26871637, 27107012, 27705803, 29892012, 29997176, 31515488, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614787 18801 ENSG00000143442
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z3K3
Protein name Pogo transposable element with ZNF domain (Suppressor of hairy wing homolog 5) (Zinc finger protein 280E) (Zinc finger protein 635)
Protein 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
PDB 2E72 , 2N3A , 6EMP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03221 HTH_Tnp_Tc5 1024 1085 Tc5 transposase DNA-binding domain Domain
PF03184 DDE_1 1154 1301 DDE superfamily endonuclease Family
Sequence
MADTDLFMECEEEELEPWQKISDVIEDSVVEDYNSVDKTTTVSVSQQPVSAPVPIAAHAS
VAGHLSTSTTVSSSGAQNSDSTKKTLVTLIANNNAGNPLVQQGGQPLILTQNPAPGLGTM
VTQPVLRPVQVMQNANHVTSSPVASQPIFITTQGFPVRNVRPVQNAMNQVGIVLNVQQGQ
TVRPITLVPAPGTQFVKPTVGVPQVFSQMTPVRPGSTMPVRPTTNTFTTVIPATLTIRST
VPQSQSQQTKSTPSTSTTPTATQPTSLGQLAVQSPGQSNQTTNPKLAPSFPSPPAVSIAS
FVTVKRPGVTGENSNEVAKLVNTLNTIPSLGQSPGPVVVSNNSSAHGSQRTSGPESSMKV
TSSIPVFDLQDGGRKICPRCNAQFRVTEALRGHMCYCCPEMVEYQKKGKSLDSEPSVPSA
AKPPSPEKTAPVASTPSSTPIPALSPPTKVPEPNENVGDAVQTKLIMLVDDFYYGRDGGK
VAQLTNFPKVATSFRCPHCTKRLKNNIRFMNHMKHHVELDQQNGEVDGHTICQHCYRQFS
TPFQLQCHLENVHSPYESTTKCKICEWAFESEPLFLQHMKDTHKPGEMPYVCQVCQYRSS
LYSEVDVHFRMIHEDTRHLLCPYCLKVFKNGNAFQQHYMRHQKRNVYHCNKCRLQFLFAK
DKIEHKLQHHKTFRKPKQLEGLKPGTKVTIRASRGQPRTVPVSSNDTPPSALQEAAPLTS
SMDPLPVFLYPPVQRSIQKRAVRKMSVMGRQTCLECSFEIPDFPNHFPTYVHCSLCRYST
CCSRAYANHMINNHVPRKSPKYLALFKNSVSGIKLACTSCTFVTSVGDAMAKHLVFNPSH
RSSSILPRGLTWIAHSRHGQTRDRVHDRNVKNMYPPPSFPTNKAATVKSAGATPAEPEEL
LTPLAPALPSPASTATPPPTPTHPQALALPPLATEGAECLNVDDQDEGSPVTQEPELASG
GGGSGGVGKKEQLSVKKLRVVLFALCCNTEQAAEHFRNPQRRIRRWLRRFQASQGENLEG
KYLSFEAEEKLAEWVLTQREQQLPVNEETLFQKATKIGRSLEGGFKISYEWAVRFMLRHH
LTPHA
RRAVAHTLPKDVAENAGLFIDFVQRQIHNQDLPLSMIVAIDEISLFLDTEVLSSD
DRKENALQTVGTGEPWCDVVLAILADGTVLPTLVFYRGQMDQPANMPDSILLEAKESGYS
DDEIMELWSTRVWQKHTACQRSKGMLVMDCHRTHLSEEVLAMLSASSTLPAVVPAGCSSK
IQPLDVCIKRTVKNFLHKKWKEQAREMADTACDSDVLLQLV
LVWLGEVLGVIGDCPELVQ
RSFLVASVLPGPDGNINSPTRNADMQEELIASLEEQLKLSGEHSESSTPRPRSSPEETIE
PESLHQLFEGESETESFYGFEEADLDLMEI
Sequence length 1410
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs2529438302 RCV003128066
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
dysmorphy Pathogenic rs1057518170 RCV000415179
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic; Pathogenic rs796052217 RCV001007917
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
intellectual deficiency Pathogenic rs1057518170 RCV000415179
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
APRAXIA OF PHONATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRACHYCEPHALY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BYZANTHINE ARCH PALATE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 26739615, 27824329, 31347273, 34948243, 37366052, 39761800 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 26763879, 26942287, 28480548, 31196716, 31347273
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 27824329, 31782611, 35367590 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 31196716
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brachycephaly Brachycephaly CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only