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. 2012 Dec 20;121(7):e14–e24. doi: 10.1182/blood-2012-05-425769

Table 3.

Genes selected for validation experiments

Expression No. Gene symbol Protein function
Down-regulated in patients of group ha 1 CDKN2C Cyclin-dependent kinase 4 inhibitor C; member of the INK4 family of cyclin-dependent kinase inhibitors; interacts with CDK4 or CDK6; prevents the activation of the CDK kinases; functions as a cell growth regulator; controls cell-cycle G1 progression
2 RNF26 Contains a C3HC5 type of RING finger involved in protein-DNA and protein-protein interactions
3 UQCRH Mitochondrial Hinge protein
Up-regulated in patients of group hb 4 LRDD Contains a leucine-rich repeat and a death domain; interacts with Fas and MAPK activating death domain-containing protein MADD; functions as an adaptor protein in signaling processes
5 HLA-DRB4 HLA-DRB4 belongs to the HLA class II beta-chain paralogs
6 ADCK2 Uncharacterized aarF domain-containing protein kinase 2
7 C18orf8 Uncharacterized protein C18orf8 of 657 aa
8 HIAT1 Putative tetracycline transporter-like protein
Down-regulated in patients of group hb 9 GIMAP1 Belongs to the GTP-binding immuno-associated nucleotide subfamily of nucleotide-binding proteins; is involved in the differentiation of Th cells; is critical for the development of mature B and T lymphocytes
10 DCAKD Dephospho-CoA kinase domain-containing protein
11 FKBP5 Member of the immunophilin protein family; plays a role in immunoregulation and basic cellular processes
12 GTPBP2 GTP-binding protein member of superfamily capable of binding GTP or GDP
13 FLJ20366 Syntabulin is a microtubule-associated protein implicated in syntaxin transport
Down-regulated in patients of group hc 14 ETV3 Transcriptional repressor; contributes to growth arrest during terminal macrophage differentiation by repressing target genes
15 KIF5C Microtubule-associated force-producing protein; may play a role in organelle transport
16 RPS27 Ribosomal protein
17 PDE4B Involved in many signal transduction pathways; may play an important role in platelet aggregation, hormone secretion, and immune cell activation
18 DOCK4 Membrane-associated cytoplasmic protein; functions as a guanine nucleotide exchange factor; is involved in the regulation of adherens junctions between cells
19 RFX7 Ribosomal protein that is a component of the 40S subunit
20 KIAA1128 Hypothetical protein of 588 aa
Up-regulated in patients of group ha 21 MTHFD1L Involved in the synthesis of tetrahydrofolate in the mitochondrion