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Table 1 Conservation status and available knockout (KO)/knockdown (KD) models of 22q11.2 deletion region protein-coding genes

From: Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

Human protein- coding genea C. elegans D. melanogaster D. rerio M. musculus
Homologue (n = 17) % Modelb Homologue (n = 22) % Modelb Homologue (n = 37) % Modelb Homologue (n = 40) % Modelb
DGCR6     gdl 37 KO dgcr6 65 Dgcr6 92
PRODH CELE_B0513.5 46 KD slgA 46 KO, KD LOC100537991 69 Prodh 82 KO
prodha 63 KO
DGCR2        dgcr2 64 KO Dgcr2 93 KO
DGCR14 ess-2 30 KO, KD Es2 35 KD dgcr14 67 Dgcr14 93 KO
TSSK2           Tssk2 92 KO
GSC2        LOC101885810 52 Gsc2 76 KO
SLC25A1 K11H3.3 65 KD sea 67 KO, KD slc25a1a 78 KD Slc25a1 94 KO
slc25a1b 84
HIRA K10D2.1 33 KO, KD Hira 60 KO, KD hira 78 KD Hira 96 KO
MRPL40 mrpl-40 30 KD mRpL40 40 KO, KD mrpl40 50 Mrpl40 75 KO
C22orf39     CG15908 32 KO, KD si:ch211..51 h9.6 49 2510002D24Rik 72 KO
UFD1L ufd-1 41 KD Ufd1-like 56 KO, KD ufd1l 87 KO Ufd1l 99 KO
CDC45 evl-18 29 KO, KD CDC45L 39 KO, KD cdc45 74 KO Cdc45 92 KO
CLDN5        cldn5a 57 KO, KD Cldn5 92 KO
cldn5b 54
SEPT5        sept5a 84 Sept5 99 KO
sept5b 85
GP1BB        gp1bb 46 Gp1bb 90 KO
TBX1 mls-1 53 KO, KD org-1 58 KO, KD tbx1 72 KO, KD Tbx1 91 KO
GNB1L     CG13192 30 KO, KD gnb1l 53 Gnb1l 82 KO
TXNRD2 trxr-2 49 KO, KD Trxr-2 55 KD si:ch1073-179p4.3 71 Txnrd2 86 KO
COMT        comta 53 Comt 80 KO
comtb 54
ARVCF        arvcfb 64 KO Arvcf 92 KO
TANGO2 R186.1 29 KD Tango2 30 KO, KD tango2 64 Tango2 88
DGCR8 pash-1 25 KO, KD pasha 37 KO, KD dgcr8 72 KO Dgcr8 95 KO
TRMT2A H24K24.4 27 KD CG3808 37 KO, KD trmt2a 56 KO Trmt2a 83 KO
RANBP1        ranbp1 73 KO Ranbp1 93 KO
ZDHHC8        zdhhc8b 57 KO Zdhhc8 92 KO
LOC388849           Gm7873 72
RTN4R        rtn4r 45 KD Rtn4r 89 KO
SCARF2        scarf2 52 Scarf2 82 KO
KLHL22     CG1812 30 KO, KD klhl22 60 Klhl22 95
MED15 mdt-15c 26 KO, KD MED15 32 KO, KD med15b 60 KD Med15 90
PI4KA CELE_Y75B8A.24 38 KO, KD PI4KIIIalpha 45 KO, KD pi4kaa 84 KD Pi4ka 98 KO
SERPIND1        serpind1 54 Serpind1 82 KO
SNAP29 snap-29 28 KO, KD Snap29 32 KO, KD snap29 51 KD Snap29 83 KO
CRKL        crkl 82 KD Crkl 97 KO
AIFM3 F20D6.11 34 KD CG4199 38 KO, KD LOC100150876 66 Aifm3 96
LZTR1     CG3711 51 KO, KD lztr1 81 Lztr1 95 KO
THAP7        thap7 42 KO Thap7 93
P2RX6           P2rx6 86 KO
SLC7A4 C50D2.2 43 KD CG13248 43 KO, KD slc7a4 64 KO Slc7a4 84
LRRC74B        si:ch211-173a9.8 41 Lrrc74b 68
  1. aGenes ordered by proximal to distal 22q11.2 locus position. Genes CLTCL1, C22orf29, DGCR6L, USP41, LOC101927859, and ZNF74 have no putative homologues, and are therefore not shown
  2. bKnockout indicates a homozygous knockout model (heterozygous knockout models can be generated by crossing a homozygous knockout with a wild-type strain)
  3. cIncluded due to confirmed functional homology [98], although did not meet minimal protein sequence coverage requirement at 50 %
  4. Italicized genes have putative homologues across all four model organisms (n = 17). Blank cells indicate no identified homologue; − indicates no knockout (KO) or knockdown (KD) model available. Percent (%) indicates sequence similarity to human protein. Homologues were identified using blastp using the UniProtKB database. KO and KD models were identified from WormBase (http://www.wormbase.org/), FlyBase (http://flybase.org/), ZFin (http://zfin.org/), and MGI (http://www.informatics.jax.org/) for C. elegans, D. melanogaster, D. rerio, and M. musculus, respectively. Data are current to 2 December 2014