ZBTB24 Chromosome 6
Zinc finger and BTB domain containing 24
Upload your DNA to see your personal genotypes for variants in ZBTB24.
What This Gene Does
Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BTB domain containing"
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000112365
Associated Conditions (4)
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Inborn genetic diseases
ZBTB24-related disorder
Kabuki syndrome 1
Key Variants
RS113516976
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS139491074
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS142830104
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, ZBTB24-related disorder, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS147441359
Conflicting classifications of pathogenicity
Kabuki syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Kabuki syndrome 1
Health Risk
RS574657385
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS775492598
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS1175562986
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS1214978641
Likely pathogenic
Health Risk
RS1776276356
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS1776402708
Likely pathogenic
Health Risk
RS2482871841
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
RS2482879619
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113516976 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS139491074 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS142830104 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, ZBTB24-related disorder, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS147441359 | Health Risk | Conflicting classifications of pathogenicity | Kabuki syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Kabuki syndrome 1 |
| RS574657385 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS775492598 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1175562986 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1214978641 | Health Risk | Likely pathogenic | — |
| RS1776276356 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1776402708 | Health Risk | Likely pathogenic | — |
| RS2482871841 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482879619 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482881376 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS750997585 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1021104757 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1131691654 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1213180923 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1378940472 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1562305058 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1582683374 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1776290442 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS1776399868 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482852662 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482868678 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482870790 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482870919 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482872102 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482872147 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482880722 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482880840 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482880948 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482881066 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482881880 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482882524 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482882627 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482882661 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482882746 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482883121 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS2482883789 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS370325706 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS370370334 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS387907104 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS770082593 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS780371205 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS867580676 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS387907105 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| RS387907106 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |