POGZ Chromosome 1
Pogo transposable element derived with ZNF domain
Upload your DNA to see your personal genotypes for variants in POGZ.
What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Helix-turn-helix CENPB type domain family"
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143442
Associated Conditions (16)
Autism spectrum disorder
Inborn genetic diseases
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
POGZ-related disorder
Intellectual disability
7 conditions
17 conditions
Obesity
Neurodevelopmental disorder
Ovarian serous cystadenocarcinoma
dysmorphy
intellectual deficiency
See cases
Smith-Magenis Syndrome-like
Global developmental delay
Speech apraxia
Key Variants
RS1276388879
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1372713010
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1452048149
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1476293577
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557863430
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557863440
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557863546
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557867853
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557870645
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557874046
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557901347
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1557902023
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
All Variants (206)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756659230 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS773311942 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |
| RS796052217 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Speech apraxia, Intellectual disability |
| RS869320764 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Neurodevelopmental disorder, Inborn genetic diseases |
| RS879255404 | Health Risk | Pathogenic/Likely pathogenic | See cases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases |
| RS886042027 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome |