IRX5 Chromosome 16
Iroquois homeobox 5
Upload your DNA to see your personal genotypes for variants in IRX5.
What This Gene Does
This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
TALE class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
16q12.2
Ensembl
ENSG00000176842
Associated Conditions (1)
Craniofacial dysplasia - osteopenia syndrome
Key Variants
RS200111411
Conflicting classifications of pathogenicity
Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
Health Risk
RS1057518725
Pathogenic
Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
Health Risk
RS2142353982
Pathogenic
Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
Health Risk
RS387907198
Pathogenic
Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
Health Risk
RS786200931
Pathogenic
Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200111411 | Health Risk | Conflicting classifications of pathogenicity | Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome |
| RS1057518725 | Health Risk | Pathogenic | Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome |
| RS2142353982 | Health Risk | Pathogenic | Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome |
| RS387907198 | Health Risk | Pathogenic | Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome |
| RS786200931 | Health Risk | Pathogenic | Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome |