FOXI3 Chromosome 2
Forkhead box I3
Upload your DNA to see your personal genotypes for variants in FOXI3.
What This Gene Does
Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in pharyngeal system development. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000214336
Associated Conditions (4)
Inborn genetic diseases
Craniofacial microsomia 1
Craniofacial microsomia 2
Craniofacial microsomia
Key Variants
RS1296112405
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1316696594
Likely pathogenic
Craniofacial microsomia 1, Craniofacial microsomia 1
Health Risk
RS1394788679
Likely pathogenic
Health Risk
RS1675993398
Likely pathogenic
Craniofacial microsomia 2, Craniofacial microsomia 1, Craniofacial microsomia 2
Health Risk
RS2528910551
Likely pathogenic
Craniofacial microsomia, Craniofacial microsomia
Health Risk
RS2528916190
Likely pathogenic
Craniofacial microsomia 2, Craniofacial microsomia 2
Health Risk
RS2528917171
Likely pathogenic
Craniofacial microsomia, Craniofacial microsomia
Health Risk
RS2528910500
Pathogenic/Likely pathogenic
Craniofacial microsomia 2, Craniofacial microsomia, Craniofacial microsomia 2
Health Risk
RS955268781
Pathogenic/Likely pathogenic
Craniofacial microsomia, Craniofacial microsomia 2, Craniofacial microsomia
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1296112405 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1316696594 | Health Risk | Likely pathogenic | Craniofacial microsomia 1, Craniofacial microsomia 1 |
| RS1394788679 | Health Risk | Likely pathogenic | — |
| RS1675993398 | Health Risk | Likely pathogenic | Craniofacial microsomia 2, Craniofacial microsomia 1, Craniofacial microsomia 2 |
| RS2528910551 | Health Risk | Likely pathogenic | Craniofacial microsomia, Craniofacial microsomia |
| RS2528916190 | Health Risk | Likely pathogenic | Craniofacial microsomia 2, Craniofacial microsomia 2 |
| RS2528917171 | Health Risk | Likely pathogenic | Craniofacial microsomia, Craniofacial microsomia |
| RS2528910500 | Health Risk | Pathogenic/Likely pathogenic | Craniofacial microsomia 2, Craniofacial microsomia, Craniofacial microsomia 2 |
| RS955268781 | Health Risk | Pathogenic/Likely pathogenic | Craniofacial microsomia, Craniofacial microsomia 2, Craniofacial microsomia |