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{{PBB|geneid=23314}}
{{PBB|geneid=23314}}
'''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]].<ref name="pmid10470851">{{cite journal | author = Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Res. | volume = 6 | issue = 3 | pages = 197–205 | year = 1999 | month = June | pmid = 10470851 | doi = | url = | issn = }}</ref> SATB2 is a DNA binding protein that specifically binds nuclear matrix attachment regions and is involved in transcription regulation and chromatin remodeling.
⚫
'''SATB2''' is a 733 amino-acid [[homeodomain]]-containing human protein with a molecular weight of 82.5 kDa encoded by the ''SATB2'' gene on 2q33. The protein contains two degenerate homeodomain regions known as CUT domains (amino acid 352–437 and 482–560) and a classical [[homeodomain]] (amino acid 614–677). There is an extraordinarily high degree of sequence conservation, with only three predicted amino-acid substitutions in the 733 residue protein with I481->V, A590->T and I730->T being amino acid differences between the human and the mouse protein.


== Structure ==
⚫
''SATB2'' was found to be disrupted in two unrelated cases with de novo apparently balanced chromosome translocations associated with cleft palate and Pierre Robin Sequence <ref name="mapping paper">FitzPatrick, D.R., Carr, I.M., McLaren, L., Leek, J.P., Wightman, P., Williamson, K., Gautier, P., McGill, N., Hayward, C., Firth, H., Markham, A.F., Fantes, J.A., and Bonthron, D.T. 2003. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet. 12:2491-2501.</ref>

⚫
SATB2 is a 733 amino-acid [[homeodomain]]-containing human protein with a molecular weight of 82.5 kDa encoded by the ''SATB2'' gene on 2q33. The protein contains two degenerate homeodomain regions known as CUT domains (amino acid 352–437 and 482–560) and a classical [[homeodomain]] (amino acid 614–677). There is an extraordinarily high degree of sequence conservation, with only three predicted amino-acid substitutions in the 733 residue protein with I481->V, A590->T and I730->T being amino acid differences between the human and the mouse protein.

== Clinical significance ==

⚫
''SATB2'' was found to be disrupted in two unrelated cases with de novo apparently balanced chromosome translocations associated with [[cleft palate]] and [[Pierre Robin syndrome|Pierre Robin Sequence]].<ref name="pmid12915443">{{cite journal | author = FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT | title = Identification of SATB2 as the cleft palate gene on 2q32-q33 | journal = Hum. Mol. Genet. | volume = 12 | issue = 19 | pages = 2491–501 | year = 2003 | month = October | pmid = 12915443 | doi = 10.1093/hmg/ddg248 | url = | issn = }}</ref>


== References ==
== References ==
{{reflist}}
{{reflist}}

==Further reading==
{{refbegin | 2}}
*{{cite journal |author=Beaty TH, Hetmanski JB, Fallin MD, ''et al.'' |title=Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. |journal=Hum. Genet. |volume=120 |issue= 4 |pages= 501-18 |year= 2006 |pmid= 16953426 |doi= 10.1007/s00439-006-0235-9 }}
*{{cite journal |author=Machado RD, Pauciulo MW, Fretwell N, ''et al.'' |title=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. |journal=Genomics |volume=68 |issue= 2 |pages= 220-8 |year= 2000 |pmid= 10964520 |doi= 10.1006/geno.2000.6291 }}
*{{cite journal |author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal |author=Jugessur A, Shi M, Gjessing HK, ''et al.'' |title=Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. |journal=PLoS ONE |volume=5 |issue= 7 |pages= e11493 |year= 2010 |pmid= 20634891 |doi= 10.1371/journal.pone.0011493 }}
*{{cite journal |author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal |author=Carter TC, Molloy AM, Pangilinan F, ''et al.'' |title=Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=88 |issue= 2 |pages= 84-93 |year= 2010 |pmid= 19937600 |doi= 10.1002/bdra.20639 }}
*{{cite journal |author=Rosenfeld JA, Ballif BC, Lucas A, ''et al.'' |title=Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. |journal=PLoS ONE |volume=4 |issue= 8 |pages= e6568 |year= 2009 |pmid= 19668335 |doi= 10.1371/journal.pone.0006568 }}
*{{cite journal |author=Vieira AR, Avila JR, Daack-Hirsch S, ''et al.'' |title=Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. |journal=PLoS Genet. |volume=1 |issue= 6 |pages= e64 |year= 2005 |pmid= 16327884 |doi= 10.1371/journal.pgen.0010064 }}
*{{cite journal |author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal |author=Dobreva G, Dambacher J, Grosschedl R |title=SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. |journal=Genes Dev. |volume=17 |issue= 24 |pages= 3048-61 |year= 2003 |pmid= 14701874 |doi= 10.1101/gad.1153003 }}
{{refend}}
{{PDB Gallery|geneid=23314}}


[[Category:Human proteins]]
[[Category:Human proteins]]

Revision as of 19:16, 16 October 2010

Template:PBB 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.[1] SATB2 is a DNA binding protein that specifically binds nuclear matrix attachment regions and is involved in transcription regulation and chromatin remodeling.

Structure

SATB2 is a 733 amino-acid homeodomain-containing human protein with a molecular weight of 82.5 kDa encoded by the SATB2 gene on 2q33. The protein contains two degenerate homeodomain regions known as CUT domains (amino acid 352–437 and 482–560) and a classical homeodomain (amino acid 614–677). There is an extraordinarily high degree of sequence conservation, with only three predicted amino-acid substitutions in the 733 residue protein with I481->V, A590->T and I730->T being amino acid differences between the human and the mouse protein.

Clinical significance

SATB2 was found to be disrupted in two unrelated cases with de novo apparently balanced chromosome translocations associated with cleft palate and Pierre Robin Sequence.[2]

References

  1. ^ Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (3): 197–205. PMID 10470851. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  2. ^ FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT (2003). "Identification of SATB2 as the cleft palate gene on 2q32-q33". Hum. Mol. Genet. 12 (19): 2491–501. doi:10.1093/hmg/ddg248. PMID 12915443. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)

Further reading

  • Beaty TH, Hetmanski JB, Fallin MD; et al. (2006). "Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations". Hum. Genet. 120 (4): 501–18. doi:10.1007/s00439-006-0235-9. PMID 16953426. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Machado RD, Pauciulo MW, Fretwell N; et al. (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. doi:10.1006/geno.2000.6291. PMID 10964520. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Jugessur A, Shi M, Gjessing HK; et al. (2010). "Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia". PLoS ONE. 5 (7): e11493. doi:10.1371/journal.pone.0011493. PMID 20634891. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Carter TC, Molloy AM, Pangilinan F; et al. (2010). "Testing reported associations of genetic risk factors for oral clefts in a large Irish study population". Birth Defects Res. Part A Clin. Mol. Teratol. 88 (2): 84–93. doi:10.1002/bdra.20639. PMID 19937600. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Rosenfeld JA, Ballif BC, Lucas A; et al. (2009). "Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome". PLoS ONE. 4 (8): e6568. doi:10.1371/journal.pone.0006568. PMID 19668335. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Vieira AR, Avila JR, Daack-Hirsch S; et al. (2005). "Medical sequencing of candidate genes for nonsyndromic cleft lip and palate". PLoS Genet. 1 (6): e64. doi:10.1371/journal.pgen.0010064. PMID 16327884. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  • Dobreva G, Dambacher J, Grosschedl R (2003). "SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression". Genes Dev. 17 (24): 3048–61. doi:10.1101/gad.1153003. PMID 14701874.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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