DISEASES

Disease-gene associations mined from literature

Literature associating CBFA2T2 and immunodeficiency-centromeric instability-facial anomalies syndrome 1

CBFA2T2 [ENSP00000262653]

Core-binding factor, runt domain, alpha subunit 2; translocated to, 2; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency. Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33- dependent manner. May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G- CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity); Zinc fingers MYND-type

Synonyms:  CBFA2T2,  CBFA2T2p,  hCBFA2T2,  B4DFM9,  CBFA2T2-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM