CUX2 Chromosome 12
Cut like homeobox 2
Upload your DNA to see your personal genotypes for variants in CUX2.
What This Gene Does
This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"CUT class homeoboxes and pseudogenes|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q24.11-q24.12
Ensembl
ENSG00000111249
Associated Conditions (5)
Inborn genetic diseases
Developmental and epileptic encephalopathy
67
CUX2-related disorder
Hypertrophic cardiomyopathy
Key Variants
RS1259294051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1353211680
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 67, Inborn genetic diseases
Health Risk
RS1433050149
Conflicting classifications of pathogenicity
Health Risk
RS143575822
Conflicting classifications of pathogenicity
CUX2-related disorder, Developmental and epileptic encephalopathy, 67
Health Risk
RS200420920
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 67, Inborn genetic diseases
Health Risk
RS748502176
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypertrophic cardiomyopathy, Inborn genetic diseases
Health Risk
RS2499773555
Likely pathogenic
Developmental and epileptic encephalopathy, 67, Developmental and epileptic encephalopathy
Health Risk
RS1351590882
Pathogenic
Developmental and epileptic encephalopathy, 67, Developmental and epileptic encephalopathy
Health Risk
RS1565909334
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 67, CUX2-related disorder
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1259294051 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1353211680 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 67, Inborn genetic diseases |
| RS1433050149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143575822 | Health Risk | Conflicting classifications of pathogenicity | CUX2-related disorder, Developmental and epileptic encephalopathy, 67 |
| RS200420920 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 67, Inborn genetic diseases |
| RS748502176 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hypertrophic cardiomyopathy, Inborn genetic diseases |
| RS2499773555 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 67, Developmental and epileptic encephalopathy |
| RS1351590882 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 67, Developmental and epileptic encephalopathy |
| RS1565909334 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 67, CUX2-related disorder |