SATB2
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 2: 199.27 – 199.47 Mb | Chr 1: 56.83 – 57.02 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene.[5] SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling.[6] SATB2 shows a restricted mode of expression [1] and is expressed in certain cell nuclei [2]. The SATB2 protein is mainly expressed in the epithelial cells of the colon and rectum, followed by the nuclei of neurons in the brain.[7]
Function
With an average worldwide prevalence of 1/800 live births, oral clefts are one of the most common birth defects.
Re-sequencing studies to identify specific mutations suggest several different genes may control risk to oral clefts, and many distinct variants or mutations in apparently causal genes have been found reflecting a high degree of allelic heterogeneity. Although most of these mutations are extremely rare and often show incomplete penetrance (i.e., an unaffected parent or other relatives may also carry the mutation), combined they may account for up to 5% of non-syndromic oral cleft.[9]
Mutations in the SATB2 gene have been found to cause isolated cleft palates.
Structure
SATB2 is a 733 amino-acid
Clinical significance
SATB2 has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome.[11]
SATB2 was found to be disrupted in two unrelated cases with de novo apparently balanced
The role of SATB2 in tooth and jaw development is supported by the identification of a de novo SATB2 mutation in a male with profound intellectual disabilities and jaw and tooth abnormalities and a translocation interrupting SATB2 in an individual with Robin sequence. In addition, mouse models have demonstrated haploinsufficiency of SATB2 results in craniofacial defects that phenocopy those caused by 2q32q33 deletion in humans; moreover, full functional loss of SATB2 amplifies these defects.[11]
SATB2 expression is highly specific for cancer in the lower
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000119042 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038331 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 10470851.
- ^ "Entrez Gene: SATB homeobox 2".
- S2CID 802377.
- PMID 20634891.
- ^ S2CID 7836461.
- PMID 21331089.
- ^ PMID 19668335.
- PMID 12915443.
- S2CID 33883685.
- S2CID 4564790.
Further reading
- Dobreva G, Dambacher J, Grosschedl R (December 2003). "SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression". Genes & Development. 17 (24): 3048–61. PMID 14701874.
- Dobreva G, Chahrour M, Dautzenberg M, Chirivella L, Kanzler B, Fariñas I, Karsenty G, Grosschedl R (June 2006). "SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation". Cell. 125 (5): 971–86. S2CID 2882724.
- Alcamo EA, Chirivella L, Dautzenberg M, Dobreva G, Fariñas I, Grosschedl R, McConnell SK (February 2008). "Satb2 regulates callosal projection neuron identity in the developing cerebral cortex". Neuron. 57 (3): 364–77. S2CID 6716396.
- Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF (November 2006). "Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations". Human Genetics. 120 (4): 501–18. S2CID 7836461.
- Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC (September 2000). "A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium". Genomics. 68 (2): 220–8. PMID 10964520.
- Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, PMID 20634891.
- Carter TC, Molloy AM, Pangilinan F, Troendle JF, Kirke PN, Conley MR, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Brody LC, Mills JL (February 2010). "Testing reported associations of genetic risk factors for oral clefts in a large Irish study population". Birth Defects Research. Part A, Clinical and Molecular Teratology. 88 (2): 84–93. PMID 19937600.
- Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, Torchia BA, Shaffer LG (2009). "Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome". PLOS ONE. 4 (8): e6568. PMID 19668335.
- Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC (December 2005). "Medical sequencing of candidate genes for nonsyndromic cleft lip and palate". PLOS Genetics. 1 (6): e64. PMID 16327884.
External links
- SATB2 human gene location in the UCSC Genome Browser.
- SATB2 human gene details in the UCSC Genome Browser.
Registry of SATB2 cases http://satb2gene.com
PDB gallery | |
|---|---|
|
This article incorporates text from the United States National Library of Medicine, which is in the public domain.