ZBTB11 Chromosome 3
Zinc finger and BTB domain containing 11
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What This Gene Does
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 69. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers C2H2-type|BTB domain containing|Integrase like retrotransposon derived"
Locus Type
gene with protein product
Location
3q12.3
Ensembl
ENSG00000066422
Associated Conditions (2)
Intellectual developmental disorder
autosomal recessive 69
Key Variants
RS1278779161
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS150334315
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS1559981249
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS1559982532
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS1936985911
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS2545757536
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS2545779418
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
RS767988210
Pathogenic
Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1278779161 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS150334315 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS1559981249 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS1559982532 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS1936985911 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS2545757536 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS2545779418 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |
| RS767988210 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 69, Intellectual developmental disorder |