SATB1 Chromosome 3
SATB homeobox 1
Upload your DNA to see your personal genotypes for variants in SATB1.
What This Gene Does
This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
CUT class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
3p24.3
Ensembl
ENSG00000182568
Associated Conditions (5)
Developmental delay with dysmorphic facies and dental anomalies
Kohlschutter-Tonz syndrome-like
Inborn genetic diseases
Neurodevelopmental disorder
Neurodevelopmental delay
Key Variants
RS1260595479
Conflicting classifications of pathogenicity
Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
Health Risk
RS145361574
Conflicting classifications of pathogenicity
Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
Health Risk
RS1455981520
Conflicting classifications of pathogenicity
Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
Health Risk
RS1698356763
Conflicting classifications of pathogenicity
Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
Health Risk
RS2125115880
Conflicting classifications of pathogenicity
Developmental delay with dysmorphic facies and dental anomalies, Inborn genetic diseases, Developmental delay with dysmorphic facies and dental anomalies
Health Risk
RS1213484295
Likely pathogenic
Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
Health Risk
RS1291314034
Likely pathogenic
Inborn genetic diseases, Kohlschutter-Tonz syndrome-like, Inborn genetic diseases
Health Risk
RS1695858904
Likely pathogenic
Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
Health Risk
RS2125123704
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2470392910
Likely pathogenic
Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
Health Risk
RS2470394817
Likely pathogenic
Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
Health Risk
RS2470656351
Likely pathogenic
Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1260595479 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS145361574 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS1455981520 | Health Risk | Conflicting classifications of pathogenicity | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |
| RS1698356763 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2125115880 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with dysmorphic facies and dental anomalies, Inborn genetic diseases, Developmental delay with dysmorphic facies and dental anomalies |
| RS1213484295 | Health Risk | Likely pathogenic | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |
| RS1291314034 | Health Risk | Likely pathogenic | Inborn genetic diseases, Kohlschutter-Tonz syndrome-like, Inborn genetic diseases |
| RS1695858904 | Health Risk | Likely pathogenic | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |
| RS2125123704 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2470392910 | Health Risk | Likely pathogenic | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |
| RS2470394817 | Health Risk | Likely pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2470656351 | Health Risk | Likely pathogenic | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |
| RS2470791087 | Health Risk | Likely pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2470798662 | Health Risk | Likely pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS375438006 | Health Risk | Likely pathogenic | — |
| RS1575135380 | Health Risk | Pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS1694228284 | Health Risk | Pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS1696356078 | Health Risk | Pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS1696356628 | Health Risk | Pathogenic | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |
| RS2125122990 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2125208683 | Health Risk | Pathogenic | Kohlschutter-Tonz syndrome-like, Developmental delay with dysmorphic facies and dental anomalies, Kohlschutter-Tonz syndrome-like |
| RS2470651558 | Health Risk | Pathogenic | — |
| RS2470652113 | Health Risk | Pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2470655524 | Health Risk | Pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2470658884 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS752755275 | Health Risk | Pathogenic | Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS773446481 | Health Risk | Pathogenic | — |
| RS1694399198 | Health Risk | Pathogenic/Likely pathogenic | Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like |