ZBTB7A Chromosome 19
Zinc finger and BTB domain containing 7A
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What This Gene Does
Enables several functions, including SMAD binding activity; nuclear androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. [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
19p13.3
Ensembl
ENSG00000178951
Associated Conditions (6)
Macrocephaly
neurodevelopmental delay
lymphoid hyperplasia
and persistent fetal hemoglobin
Neurodevelopmental delay
Inborn genetic diseases
Key Variants
RS2512275935
Likely pathogenic
Health Risk
RS1555693029
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS2144972709
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS2144973210
Pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2144973693
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS2144989820
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS2144992092
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS2144994347
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS749935719
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
RS773655534
Pathogenic
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2512275935 | Health Risk | Likely pathogenic | — |
| RS1555693029 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS2144972709 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS2144973210 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2144973693 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS2144989820 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS2144992092 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS2144994347 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS749935719 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |
| RS773655534 | Health Risk | Pathogenic | Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia |