PBX3 Chromosome 9
PBX homeobox 3
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What This Gene Does
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in several processes, including embryonic organ development; eye development; and nervous system development. Predicted to act upstream of or within several processes, including adult locomotory behavior; dorsal spinal cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
TALE class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
9q33.3
Ensembl
ENSG00000167081
Associated Conditions (1)
X-linked cone-rod dystrophy
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2538470959 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy, X-linked cone-rod dystrophy |
| RS2538917440 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy, X-linked cone-rod dystrophy |
| RS2538917443 | Health Risk | Likely pathogenic | X-linked cone-rod dystrophy, X-linked cone-rod dystrophy |