Overview:

STK32B or YANK2 is a serine/threonine protein kinase that contains motif for binding metal ions and nucleotides and the gene for STK32B is highly conserved among various species. STK32B has been associated with isolated cleft lip with or without cleft palate and cleft palate which are among the most common human birth defects of oral cleft cases (1). Long interspersed nuclear element-1 (LINE-1 or L1) mediated deletion of STK32B gene is observed in patients with Ellis-van Creveld syndrome with borderline intelligence (2).

Gene Aliases:

YANK2; STK32B; STK32; STKG6; HSA250839

Genbank Number:

BC038238

References:

1. Ingersoll, R G. et al: Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. Eur J Hum Genet. 2010 Jun;18(6):726-32.

2. Temtamy, S A. et al: Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum Mutat. 2008 Jul;29(7):931-8.