SATB2 Chromosome 2
SATB homeobox 2
Upload your DNA to see your personal genotypes for variants in SATB2.
What This Gene Does
This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
CUT class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000119042
Associated Conditions (16)
Chromosome 2q32-q33 deletion syndrome
Inborn genetic diseases
SATB2-related disorder
SATB2 associated disorder
7 conditions
Intellectual disability
Autism spectrum disorder
See cases
Neurodevelopmental disorder
Developmental disorder
Cleft palate
6 conditions
Isolated cleft palate
Dystonic disorder
Cerebellar ataxia
Neurodevelopmental abnormality
Key Variants
RS1000649173
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1042085577
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1043250716
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1048433974
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1057524205
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1201673032
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS12619995
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases, SATB2-related disorder
Health Risk
RS1323623166
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1367720345
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1553493553
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1559136030
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
RS1692187554
Conflicting classifications of pathogenicity
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
Health Risk
All Variants (183)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2105867988 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2468783233 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468783306 | Health Risk | Likely pathogenic | — |
| RS2468783969 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468783987 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468839144 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868422 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868436 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468896539 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468896696 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468896714 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468896854 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468897040 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468928471 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, SATB2-related disorder, Chromosome 2q32-q33 deletion syndrome |
| RS2468928472 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468928533 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468928578 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468948604 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2469034035 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2469034343 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2469080713 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS863224917 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1057518190 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases |
| RS1057518496 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518614 | Health Risk | Pathogenic | — |
| RS1064793820 | Health Risk | Pathogenic | — |
| RS1064793947 | Health Risk | Pathogenic | — |
| RS1064795530 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1131691672 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1135401803 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1247886882 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases |
| RS1330378388 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1357010510 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS137853127 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Intellectual disability, Cleft palate |
| RS1391758713 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1424984467 | Health Risk | Pathogenic | — |
| RS1553496051 | Health Risk | Pathogenic | — |
| RS1553496413 | Health Risk | Pathogenic | — |
| RS1553507389 | Health Risk | Pathogenic | SATB2-related disorder, SATB2-related disorder |
| RS1553544133 | Health Risk | Pathogenic | 6 conditions, 6 conditions |
| RS1553544158 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1553544187 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1553546975 | Health Risk | Pathogenic | — |
| RS1553547055 | Health Risk | Pathogenic | — |
| RS1553547838 | Health Risk | Pathogenic | Isolated cleft palate, Dystonic disorder, Intellectual disability |
| RS1553547906 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553551647 | Health Risk | Pathogenic | — |
| RS1553551705 | Health Risk | Pathogenic | Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases |
| RS1559052017 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS1559052032 | Health Risk | Pathogenic | Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome |