SATB2 SATB homeobox 2
Gene ID: 23314, updated on 4-Jan-2025Gene type: protein coding
Also known as: GLSS; DEL2Q32Q33; C2DELq32q33
- See all available tests in GTR for this gene
- Go to complete Gene record for SATB2
- Go to Variation Viewer for SATB2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of sleep habits and insomnia. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Chromosome 2q32-q33 deletion syndrome | See labs |
| Genome-wide association identifies multiple ulcerative colitis susceptibility loci. GeneReviews: Not available | |
| Genome-wide association of body fat distribution in African ancestry populations suggests new loci. GeneReviews: Not available | |
| Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-15) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-15) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 2q33.1
- Sequence:
- Chromosome: 2; NC_000002.12 (199269500..199471266, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SATB2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SATB2 @ LOVD
- Variation ViewerRelated Variants
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