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Home > A. Molecular pathology > SATB2


Thursday 15 June 2017


Definition: 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.

SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. *


SATB2 has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome.

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.

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 mental retardation 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.


SATB2 is a sensitive marker for lower gastrointestinal well-differentiated neuroendocrine tumors. (26261600)

SATB2 Expression Distinguishes Ovarian Metastases of Colorectal and Appendiceal Origin From Primary Ovarian Tumors of Mucinous or Endometrioid Type. (26551622)

SATB2 in combination with cytokeratin 20 identifies over 95% of all colorectal carcinomas. (21677534)

Dual Immunostain With SATB2 and CK20 Differentiates Appendiceal Mucinous Neoplasms From Ovarian Mucinous Neoplasms. (28340228)

SATB2 immunohistochemical expression help in distinguishing between osteosarcomas and their malignant bone tumor mimickers, such as Ewing sarcomas and chondrosarcomas. (27465835)