ZBTB20 Chromosome 3
Zinc finger and BTB domain containing 20
Upload your DNA to see your personal genotypes for variants in ZBTB20.
What This Gene Does
This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BTB domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3q13.31
Ensembl
ENSG00000181722
Associated Conditions (13)
Inborn genetic diseases
Intellectual disability
Primrose syndrome
ZBTB20-related disorder
See cases
Neurodevelopmental disorder
Marfanoid habitus and intellectual disability
Clinodactyly of the 4th toe
Moderate global developmental delay
Abnormal facial shape
Clinodactyly of the 5th finger
Autistic behavior
SHORT syndrome
Key Variants
RS1003856768
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064796308
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS141898386
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1455665941
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1576220405
Conflicting classifications of pathogenicity
Primrose syndrome, Intellectual disability, Primrose syndrome
Health Risk
RS200761427
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2080629778
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2550505688
Conflicting classifications of pathogenicity
Inborn genetic diseases, Primrose syndrome, Inborn genetic diseases
Health Risk
RS754853149
Conflicting classifications of pathogenicity
Primrose syndrome, Inborn genetic diseases, ZBTB20-related disorder
Health Risk
RS757544325
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779190582
Conflicting classifications of pathogenicity
Health Risk
RS915537128
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (73)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1003856768 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064796308 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS141898386 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1455665941 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1576220405 | Health Risk | Conflicting classifications of pathogenicity | Primrose syndrome, Intellectual disability, Primrose syndrome |
| RS200761427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2080629778 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2550505688 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Primrose syndrome, Inborn genetic diseases |
| RS754853149 | Health Risk | Conflicting classifications of pathogenicity | Primrose syndrome, Inborn genetic diseases, ZBTB20-related disorder |
| RS757544325 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779190582 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS915537128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS998700576 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057524076 | Health Risk | Likely pathogenic | — |
| RS1064795382 | Health Risk | Likely pathogenic | Inborn genetic diseases, See cases, Primrose syndrome |
| RS1196823355 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS1240860015 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1553789264 | Health Risk | Likely pathogenic | Inborn genetic diseases, Primrose syndrome, Inborn genetic diseases |
| RS1576220750 | Health Risk | Likely pathogenic | Marfanoid habitus and intellectual disability, Primrose syndrome, Neurodevelopmental disorder |
| RS1576220959 | Health Risk | Likely pathogenic | — |
| RS1576280941 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS1576283052 | Health Risk | Likely pathogenic | — |
| RS2079586826 | Health Risk | Likely pathogenic | — |
| RS2108083606 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2108199978 | Health Risk | Likely pathogenic | — |
| RS2108202121 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2108202536 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2108207488 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2549116195 | Health Risk | Likely pathogenic | — |
| RS2549119185 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2550438318 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2550438573 | Health Risk | Likely pathogenic | ZBTB20-related disorder, ZBTB20-related disorder |
| RS2550439092 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2550499110 | Health Risk | Likely pathogenic | — |
| RS2550499342 | Health Risk | Likely pathogenic | — |
| RS2550499377 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2550501254 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS2550503069 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS483353067 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS752829783 | Health Risk | Likely pathogenic | Primrose syndrome, Primrose syndrome |
| RS879255635 | Health Risk | Likely pathogenic | — |
| RS1331926530 | Health Risk | Pathogenic | ZBTB20-related disorder, ZBTB20-related disorder |
| RS1553789275 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553794464 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1560092224 | Health Risk | Pathogenic | Clinodactyly of the 4th toe, Moderate global developmental delay, Abnormal facial shape |
| RS1560092633 | Health Risk | Pathogenic | Primrose syndrome, Primrose syndrome |
| RS1560110565 | Health Risk | Pathogenic | Primrose syndrome, Primrose syndrome |
| RS1576220876 | Health Risk | Pathogenic | Primrose syndrome, Primrose syndrome |
| RS1576220938 | Health Risk | Pathogenic | Intellectual disability, Primrose syndrome, Primrose syndrome |
| RS1576280892 | Health Risk | Pathogenic | Primrose syndrome, Intellectual disability, Primrose syndrome |