Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23126
Gene name Gene Name - the full gene name approved by the HGNC.
Pogo transposable element derived with ZNF domain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POGZ
Synonyms (NCBI Gene) Gene synonyms aliases
MRD37, WHSUS, ZNF280E, ZNF635, ZNF635m
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 var
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614787 18801 ENSG00000143442
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs796052217 N/A
Obesity obesity rs1571321748 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adducted Thumbs Syndrome Associate 34206215
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 31782611
Autism Spectrum Disorder Associate 26739615, 27824329, 31347273, 34948243, 37366052, 39761800
Autistic Disorder Associate 27824329, 31782611, 35367590
Celiac Disease Associate 39761800
Central Nervous System Vascular Malformations Associate 34206215
Chromosome 17q21.31 Deletion Syndrome Associate 39775551
Congenital Abnormalities Associate 39761800
Developmental Disabilities Associate 26739615, 31782611, 34206215, 35052493, 35367590, 39761800
Disease Associate 36658409