Zinc Finger Protein 215 (ZNF215)
ZKSCAN11; BAZ2; Zinc finger protein with KRAB and SCAN domains 11; BWSCR2-associated zinc finger protein 2
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The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. Three regions on 11p15 (BWSCR1, BWSCR2, and BWSCR3) may play a role in the development of BWS. BWSCR2 and BWSCR3 map, respectively, 5 Mb and 7 Mb proximal to BWSCR1, which is located 200 to 300 kb proximal to the IGF2 gene on 11p15.5. BWSCR2 is defined by 2 BWS breakpoints. ZNF215 contains contains 4 zinc fingers, a KRABA domain, sequences similar to a KRABB domain, an N-terminal SCAN box, and a nuclear localization signal. Parts of the 3-prime end of these splice forms are transcribed from the antisense strands of ZNF214. ZNF215 gene is imprinted in a tissue-specific manner, whereas ZNF214 is not imprinted. These data supported a role for ZNF215, and possibly for ZNF214, in the etiology of BWS.
Organism species: Homo sapiens (Human)
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