BACH2 Chromosome 6
BACH transcriptional regulator 2
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What This Gene Does
Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Basic leucine zipper proteins|BTB domain containing"
Locus Type
gene with protein product
Location
6q15
Ensembl
ENSG00000112182
Associated Conditions (1)
Immunodeficiency 60
Key Variants
RS138868869
Conflicting classifications of pathogenicity
Health Risk
RS147349828
Conflicting classifications of pathogenicity
Health Risk
RS201106988
Conflicting classifications of pathogenicity
Health Risk
RS201928231
Conflicting classifications of pathogenicity
Health Risk
RS747189218
Conflicting classifications of pathogenicity
Health Risk
RS751985212
Conflicting classifications of pathogenicity
Health Risk
RS754815178
Conflicting classifications of pathogenicity
Immunodeficiency 60, Immunodeficiency 60
Health Risk
RS768281648
Conflicting classifications of pathogenicity
Health Risk
RS768727078
Conflicting classifications of pathogenicity
Health Risk
RS770481670
Conflicting classifications of pathogenicity
Health Risk
RS778156516
Conflicting classifications of pathogenicity
Health Risk
RS1562364898
Pathogenic
Immunodeficiency 60, Immunodeficiency 60
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138868869 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147349828 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201106988 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201928231 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747189218 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751985212 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754815178 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 60, Immunodeficiency 60 |
| RS768281648 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768727078 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770481670 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778156516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1562364898 | Health Risk | Pathogenic | Immunodeficiency 60, Immunodeficiency 60 |