Known Genes within SCR22q11.1-22q11.22

Gene GeneID Cytoband Start Position (bp) End Position (bp) Size (bp) Status Description
AIFM3 150209 22q11.21 21319418 21335649 16231 VALIDATED apoptosis-inducing factor, mitochondrion-associated, 3
ARVCF 421 22q11.21 19957402 20004309 46907 REVIEWED armadillo repeat gene deleted in velocardiofacial syndrome
ATP6V1E1 529 22pter-q11.2|22q11.1 18074902 18111588 36686 REVIEWED ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
BCL2L13 23786 22q11.1 18121485 18211991 90506 VALIDATED BCL2-like 13 (apoptosis facilitator)
BCRP2 400892 22q11.21 21457305 21476575 19270 VALIDATED breakpoint cluster region pseudogene 2
BID 637 22q11.1 18216906 18257258 40352 REVIEWED BH3 interacting domain death agonist
BMP6P1 266700 22q11.2 22539860 22541506 1646 REVIEWED bone morphogenetic protein 6 pseudogene 1
C22orf25 128989 22q11.21 20008631 20053447 44816 VALIDATED chromosome 22 open reading frame 25
C22orf29 79680 22q11.21 19833661 19842371 8710 VALIDATED chromosome 22 open reading frame 29
C22orf39 128977 22q11.21 19428409 19435755 7346 VALIDATED chromosome 22 open reading frame 39
CCDC116 164592 22q11.21 21987086 21991616 4530 PROVISIONAL coiled-coil domain containing 116
CCT8L2 150160 22q11.1 17071648 17073700 2052 VALIDATED chaperonin containing TCP1, subunit 8 (theta)-like 2
CDC45 8318 22q11.21 19467414 19508135 40721 VALIDATED cell division cycle 45 homolog (S. cerevisiae)
CECR1 51816 22q11.2 17660192 17690779 30587 REVIEWED cat eye syndrome chromosome region, candidate 1
CECR2 27443 22q11.2 17956630 18033845 77215 VALIDATED cat eye syndrome chromosome region, candidate 2
CECR4 100130717 22q11.1 17640279 17646335 6056 VALIDATED cat eye syndrome chromosome region, candidate 4 (non-protein coding)
CECR5 27440 - 17618410 17646177 27767 VALIDATED cat eye syndrome chromosome region, candidate 5
CECR6 27439 - 17597189 17602257 5068 VALIDATED cat eye syndrome chromosome region, candidate 6
CLDN5 7122 22q11.21 19510547 19512860 2313 REVIEWED claudin 5
CLTCL1 8218 22q11.2|22q11.21 19166986 19279239 112253 REVIEWED clathrin, heavy chain-like 1
COMT 1312 22q11.21-q11.23|22q11.21 19929263 19957498 28235 REVIEWED catechol-O-methyltransferase
CRKL 1399 22q11|22q11.21 21271714 21308037 36323 REVIEWED v-crk sarcoma virus CT10 oncogene homolog (avian)-like
DGCR11 25786 22q11.21 19033675 19035888 2213 VALIDATED DiGeorge syndrome critical region gene 11
DGCR14 8220 22q11.21|22q11.2 19117792 19132190 14398 REVIEWED DiGeorge syndrome critical region gene 14
DGCR2 9993 22q11.21 19023795 19109967 86172 REVIEWED DiGeorge syndrome critical region gene 2
DGCR5 26220 22q11 18958027 18982141 24114 PROVISIONAL DiGeorge syndrome critical region gene 5 (non-protein coding)
DGCR6 8214 22q11.21|22q11 18893736 18899601 5865 REVIEWED DiGeorge syndrome critical region gene 6
DGCR6L 85359 22q11 20301761 20307628 5867 REVIEWED DiGeorge syndrome critical region gene 6-like
DGCR8 54487 22q11.2 20067755 20099400 31645 REVIEWED DiGeorge syndrome critical region gene 8
DGCR9 25787 22q11.21 19005347 19007761 2414 VALIDATED DiGeorge syndrome critical region gene 9
FAM108A6P 91219 22q11.22 22471874 22472374 500 REVIEWED family with sequence similarity 108, member A1 pseudogene
FLJ39582 439931 22q11.21 21356211 21364663 8452 VALIDATED hypothetical LOC439931
GAB4 128954 22q11.1 17442826 17489112 46286 PROVISIONAL GRB2-associated binding protein family, member 4
GGT3P 2679 22q11.21 18761202 18779474 18272 VALIDATED gamma-glutamyltransferase 3 pseudogene
GNB1L 54584 22q11.2 19775934 19842462 66528 VALIDATED guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GP1BB 2812 22q11.21-q11.23|22q11.21 19711066 19712297 1231 REVIEWED glycoprotein Ib (platelet), beta polypeptide
GSC2 2928 22q11.21 19136504 19137796 1292 REVIEWED goosecoid homeobox 2
HIC2 23119 22q11.21 21771693 21805752 34059 VALIDATED hypermethylated in cancer 2
HIRA 7290 22q11.2|22q11.21 19318224 19419219 100995 REVIEWED HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
HSFY1P1 27437 - 17308364 17310225 1861 PROVISIONAL heat shock transcription factor, Y-linked 1 pseudogene 1
IGL@ 3535 22q11.2 22380474 23265085 884611 REVIEWED immunoglobulin lambda locus
IGLV1-62 28819 22q11.2 22441127 22441435 308 REVIEWED immunoglobulin lambda variable 1-62 pseudogene
IGLV10-67 28771 22q11.2 22397850 22398312 462 REVIEWED immunoglobulin lambda variable 10-67 pseudogene
IGLV11-55 28770 22q11.2 22556069 22556555 486 REVIEWED immunoglobulin lambda variable 11-55 (non-functional)
IGLV4-60 28785 22q11.2 22516591 22517074 483 REVIEWED immunoglobulin lambda variable 4-60
IGLV4-69 28784 22q11.2 22385392 22385870 478 REVIEWED immunoglobulin lambda variable 4-69
IGLV6-57 28778 22q11.2 22550199 22550676 477 REVIEWED immunoglobulin lambda variable 6-57
IGLV8-61 28774 22q11.2 22453171 22453622 451 REVIEWED immunoglobulin lambda variable 8-61
IGLVI-56 28766 22q11.2 22553124 22553419 295 REVIEWED immunoglobulin lambda variable (I)-56 pseudogene
IGLVI-63 28765 22q11.2 22434180 22434643 463 REVIEWED immunoglobulin lambda variable (I)-63 pseudogene
IGLVI-68 28764 22q11.2 22387300 22387603 303 REVIEWED immunoglobulin lambda variable (I)-68 pseudogene
IGLVI-70 28763 22q11.2 22380474 22380951 477 REVIEWED immunoglobulin lambda variable (I)-70 pseudogene
IGLVIV-59 28761 22q11.2 22533555 22533878 323 REVIEWED immunoglobulin lambda variable (IV)-59 pseudogene
IGLVIV-64 28760 22q11.2 22429597 22430093 496 REVIEWED immunoglobulin lambda variable (IV)-64 pseudogene
IGLVIV-65 28759 22q11.2 22424636 22425122 486 REVIEWED immunoglobulin lambda variable (IV)-65 pseudogene
IGLVIV-66-1 84097 22q11.2 22412891 22413217 326 REVIEWED immunoglobulin lambda variable (IV)-66-1 pseudogene
IGLVV-58 28758 22q11.2 22536973 22537280 307 REVIEWED immunoglobulin lambda variable (V)-58 pseudogene
IGLVV-66 28757 22q11.2 22415658 22415969 311 REVIEWED immunoglobulin lambda variable (V)-66 pseudogene
IL17RA 23765 22q11.1 17565849 17591405 25556 REVIEWED interleukin 17 receptor A
KLHL22 84861 22q11.21 20795806 20850170 54364 VALIDATED kelch-like 22 (Drosophila)
LOC100129262 100129262 22q11.21 19043354 19043700 346 REVIEWED ribosomal protein L28 pseudogene
LOC150185 150185 22q11.21 19553653 19554362 709 VALIDATED hypothetical LOC150185
LOC150197 150197 22q11.21 20193855 20196060 2205 VALIDATED hypothetical LOC150197
LOC400891 400891 22q11.21 21400249 21418457 18208 VALIDATED chromosome 14 open reading frame 166B pseudogene
LZTR1 8216 22q11.21|22q11.1-q11.2 21336558 21353326 16768 REVIEWED leucine-zipper-like transcription regulator 1
MAPK1 5594 22q11.2|22q11.21 22113946 22221970 108024 REVIEWED mitogen-activated protein kinase 1
MED15 51586 22q11.2 20861886 20941919 80033 REVIEWED mediator complex subunit 15
MGC16703 113691 22q11.21 21362492 21368576 6084 VALIDATED tubulin, alpha pseudogene
MICAL3 57553 22q11.21 18270415 18507325 236910 PROVISIONAL microtubule associated monoxygenase, calponin and LIM domain containing 3
MIR1286 100302118 - 20236657 20236734 77 PROVISIONAL microRNA 1286
MIR1306 100302197 - 20073581 20073665 84 PROVISIONAL microRNA 1306
MIR130B 406920 - 22007593 22007674 81 PROVISIONAL microRNA 130b
MIR185 406961 22q11.21 20020662 20020743 81 PROVISIONAL microRNA 185
MIR301B 100126318 22q11.21 22007270 22007347 77 PROVISIONAL microRNA 301b
MIR3198 100423025 - 18246946 18247025 79 PROVISIONAL microRNA 3198
MIR648 693233 22q11.21 18463634 18463727 93 PROVISIONAL microRNA 648
MIR649 693234 - 21388465 21388561 96 PROVISIONAL microRNA 649
MRPL40 64976 22q11.21 19420036 19423598 3562 REVIEWED mitochondrial ribosomal protein L40
P2RX6 9127 22q11.21 21369442 21382302 12860 REVIEWED purinergic receptor P2X, ligand-gated ion channel, 6
P2RX6P 440799 22q11.21 21396681 21398538 1857 PROVISIONAL purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene
PEX26 55670 22q11.21 18560686 18572207 11521 REVIEWED peroxisomal biogenesis factor 26
PI4KA 5297 22q11.21 21061979 21213070 151091 REVIEWED phosphatidylinositol 4-kinase, catalytic, alpha
PI4KAP1 728233 22q11.21 20383731 20398695 14964 PROVISIONAL phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1
PI4KAP2 375133 22q11.21 21827287 21871780 44493 VALIDATED phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2
POM121L4P 266697 22q11.2 21043843 21046009 2166 PROVISIONAL POM121 membrane glycoprotein-like 4 pseudogene
POM121L8P 29797 22q11.2 21636714 21652019 15305 PROVISIONAL POM121 membrane glycoprotein-like 8 pseudogene
PPIL2 23759 22q11.21 22020273 22052202 31929 REVIEWED peptidylprolyl isomerase (cyclophilin)-like 2
PPM1F 9647 22q11.22 22273792 22307250 33458 REVIEWED protein phosphatase, Mg2+/Mn2+ dependent, 1F
PRODH 5625 22q11.21 18900294 18923814 23520 REVIEWED proline dehydrogenase (oxidase) 1
RANBP1 5902 22q11.21 20105024 20114704 9680 REVIEWED RAN binding protein 1
RIMBP3 85376 22q11.21 20455991 20461786 5795 VALIDATED RIMS binding protein 3
RIMBP3B 440804 22q11.21 21738040 21743458 5418 VALIDATED RIMS binding protein 3B
RIMBP3C 150221 22q11.21 21899955 21905750 5795 VALIDATED RIMS binding protein 3C
RPL31P62 100271482 22q11.1 17574505 17574827 322 REVIEWED ribosomal protein L31 pseudogene 62
RTN4R 65078 22q11.21 20228938 20255816 26878 REVIEWED reticulon 4 receptor
SCARF2 91179 22q11.21 20778875 20792146 13271 REVIEWED scavenger receptor class F, member 2
SDF2L1 23753 22q11.21 21996542 21998588 2046 VALIDATED stromal cell-derived factor 2-like 1
SEPT5 5413 22q11.21 19701987 19712297 10310 REVIEWED septin 5
SERPIND1 3053 22q11.2|22q11.21 21128383 21142008 13625 REVIEWED serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SLC25A1 6576 22q11.21 19163094 19166301 3207 VALIDATED solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A18 83733 22q11.2 18043183 18073647 30464 PROVISIONAL solute carrier family 25 (mitochondrial carrier), member 18
SLC7A4 6545 22q11.21 21383007 21386847 3840 VALIDATED solute carrier family 7 (cationic amino acid transporter, y+ system), member 4
SNAP29 9342 22q11.21 21213292 21245502 32210 REVIEWED synaptosomal-associated protein, 29kDa
SOCS2P2 266701 22q11.2 22524349 22525988 1639 REVIEWED suppressor of cytokine signaling 2 pseudogene 2
TBX1 6899 22q11.21 19744226 19771116 26890 REVIEWED T-box 1
THAP7 80764 22q11.2 21354061 21356404 2343 VALIDATED THAP domain containing 7
TOP3B 8940 22q11.22 22311403 22337147 25744 REVIEWED topoisomerase (DNA) III beta
TRMT2A 27037 22q11.1-22q13|22q11.21 20099398 20104768 5370 VALIDATED TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae)
TSSK1A 23752 22q11.21 19112431 19113380 949 REVIEWED testis-specific serine kinase 1A pseudogene
TSSK2 23617 22q11.21 19118321 19120136 1815 VALIDATED testis-specific serine kinase 2
TUBA8 51807 22q11.1 18593453 18614498 21045 REVIEWED tubulin, alpha 8
TXNRD2 10587 22q11.21 19863040 19929359 66319 REVIEWED thioredoxin reductase 2
UBE2L3 7332 22q11.21 21921957 21978323 56366 REVIEWED ubiquitin-conjugating enzyme E2L 3
UFD1L 7353 22q11.21 19437464 19466738 29274 REVIEWED ubiquitin fusion degradation 1 like (yeast)
USP18 11274 22q11.21 18632758 18660164 27406 VALIDATED ubiquitin specific peptidase 18
XKR3 150165 22q11.1 17264302 17302584 38282 VALIDATED XK, Kell blood group complex subunit-related family, member 3
YDJC 150223 22q11.21 21982378 21984340 1962 VALIDATED YdjC homolog (bacterial)
YPEL1 29799 22q11.2 22051825 22090071 38246 REVIEWED yippee-like 1 (Drosophila)
ZDHHC8 29801 22q11.21 20119364 20135530 16166 REVIEWED zinc finger, DHHC-type containing 8
ZNF402P 266673 22q11 17338026 17341721 3695 VALIDATED zinc finger protein 402, pseudogene
ZNF74 7625 22q11.2|22q11.21 20748480 20762752 14272 VALIDATED zinc finger protein 74
psiTPTE22 387590 22q11.1 17082801 17129720 46919 PROVISIONAL TPTE pseudogene

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