ZMIZ1 Chromosome 10
Zinc finger MIZ-type containing 1
Upload your DNA to see your personal genotypes for variants in ZMIZ1.
What This Gene Does
This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Zinc fingers MIZ-type
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000108175
Associated Conditions (8)
Inborn genetic diseases
Malignant tumor of urinary bladder
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Neurodevelopmental disorder
Syndromic neurodevelopmental disorder
ZMIZ1-related disorder
See cases
Neurodevelopmental abnormality
Key Variants
RS1156561540
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1196469674
Conflicting classifications of pathogenicity
Inborn genetic diseases, Malignant tumor of urinary bladder, Inborn genetic diseases
Health Risk
RS1345500965
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1380703248
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Health Risk
RS201282468
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201734007
Conflicting classifications of pathogenicity
Health Risk
RS375183403
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS545179298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS572323939
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Health Risk
RS746314274
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751935868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753707755
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2492205344 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
| RS777843533 | Health Risk | Pathogenic | Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder |
| RS1589590917 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
| RS1589627138 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
| RS1589627206 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
| RS1854257578 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
| RS2132094719 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |