POGZ (pogo transposable element derived with ZNF domain)

2014-11-01  

Identity

HGNC
POGZ
LOCATION
1q21.3
LOCUSID
23126
ALIAS
MRD37,WHSUS,ZNF280E,ZNF635,ZNF635m
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383507212024Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder.0
383507212024Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder.0
366584092023Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ.1
366584092023Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ.1
347581902022POGZ promotes homology-directed DNA repair in an HP1-dependent manner.7
350524932022Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.4
353675902022Loss of POGZ alters neural differentiation of human embryonic stem cells.2
347581902022POGZ promotes homology-directed DNA repair in an HP1-dependent manner.7
350524932022Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.4
353675902022Loss of POGZ alters neural differentiation of human embryonic stem cells.2
332779172021Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.8
337268032021Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ(WT/Q1038R) mouse model of autism spectrum disorder.10
342062152021Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.4
344745532021Identification of abnormally high expression of POGZ as a new biomarker associated with a poor prognosis in osteosarcoma.4
348792832021Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.27

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