POGZ (pogo transposable element derived with ZNF domain)

2014-11-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
MRD37,WHSUS,ZNF280E,ZNF635,ZNF635m
FUSION GENES

Other Information

Locus ID:

NCBI: 23126
MIM: 614787
HGNC: 18801
Ensembl: ENSG00000143442

Variants:

dbSNP: 23126
ClinVar: 23126
TCGA: ENSG00000143442
COSMIC: POGZ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143442ENST00000271715Q7Z3K3
ENSG00000143442ENST00000368863Q7Z3K3
ENSG00000143442ENST00000392723Q7Z3K3
ENSG00000143442ENST00000409503Q7Z3K3
ENSG00000143442ENST00000439756A0A0G2JHK5
ENSG00000143442ENST00000441516H7C238
ENSG00000143442ENST00000450842A6PW30
ENSG00000143442ENST00000491586Q7Z3K3
ENSG00000143442ENST00000529669H0YCT3
ENSG00000143442ENST00000531094Q7Z3K3
ENSG00000143442ENST00000533351E9PJY9
ENSG00000143442ENST00000533461E9PIR8
ENSG00000143442ENST00000594456M0R2X2

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205628642010Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation.90
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192442402009Lens epithelium-derived growth factor/p75 interacts with the transposase-derived DDE domain of PogZ.45
269422872016Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.30
267396152016POGZ truncating alleles cause syndromic intellectual disability.21
262459782015Multiple cellular proteins interact with LEDGF/p75 through a conserved unstructured consensus motif.16
267638792016A novel de novo POGZ mutation in a patient with intellectual disability.5
313472732019POGZ de novo missense variants in neuropsychiatric disorders.2
311967162019Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.1

Citation

Dessen P

POGZ (pogo transposable element derived with ZNF domain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72045/pogz