22q11 2 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP4657.html
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Genes

119 proteins participating in the 22q11 2 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTC1 actin, alpha, cardiac muscle 1
AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASF1A anti-silencing function 1A histone chaperone
BCL2 B-cell CLL/lymphoma 2
BMAL1 basic helix-loop-helix ARNT like 1
C22ORF39 chromosome 22 open reading frame 39
CBX5 chromobox homolog 5
CCDC188 coiled-coil domain containing 188
CDC42 cell division cycle 42
CDC45 cell division cycle 45
CDH15 cadherin 15, type 1, M-cadherin (myotubule)
CHRD chordin
CLDN1 claudin 1
CLDN3 claudin 3
CLDN5 claudin 5
CLTCL1 clathrin, heavy chain-like 1
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL3 cullin 3
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1
DEPDC5 DEP domain containing 5
DGCR2 DiGeorge syndrome critical region gene 2
DGCR6L DiGeorge syndrome critical region gene 6-like
DGCR8 DGCR8 microprocessor complex subunit
DRD2 dopamine receptor D2
DROSHA drosha, ribonuclease type III
EGFR epidermal growth factor receptor
EMC10 ER membrane protein complex subunit 10
ESS2 ess-2 splicing factor homolog
FGF10 fibroblast growth factor 10
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
GBX2 gastrulation brain homeobox 2
GLUD1 glutamate dehydrogenase 1
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP5 glycoprotein V (platelet)
GP9 glycoprotein IX (platelet)
GSC2 goosecoid homeobox 2
H4C1 H4 clustered histone 1
H4C15 H4 clustered histone 15
HAND2 heart and neural crest derivatives expressed 2
HDAC3 histone deacetylase 3
HES1 hes family bHLH transcription factor 1
HIRA histone cell cycle regulator
HIRIP3 HIRA interacting protein 3
KLHL22 kelch-like family member 22
KPNB1 karyopherin (importin) beta 1
LRRC74B leucine rich repeat containing 74B
LZTR1 leucine-zipper-like transcription regulator 1
MAG myelin associated glycoprotein
MALT1 MALT1 paracaspase
MED15 mediator complex subunit 15
MRPL40 mitochondrial ribosomal protein L40
NCOR1 nuclear receptor corepressor 1
NKX2-5 NK2 homeobox 5
NPRL2 nitrogen permease regulator-like 2 (S. cerevisiae)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
OAT ornithine aminotransferase
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAX3 paired box 3
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PITX2 paired-like homeodomain 2
PLK1 polo-like kinase 1
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PRKN parkin RBR E3 ubiquitin protein ligase
PRODH proline dehydrogenase (oxidase) 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAN RAN, member RAS oncogene family
RANBP1 RAN binding protein 1
RANGAP1 Ran GTPase activating protein 1
RBX1 ring-box 1, E3 ubiquitin protein ligase
RCC1 regulator of chromosome condensation 1
RELN reelin
RORC RAR-related orphan receptor C
RTL10 retrotransposon Gag like 10
RTN4 reticulon 4
RTN4R reticulon 4 receptor
SCARF2 scavenger receptor class F, member 2
SEPTIN11 septin 11
SEPTIN5 septin 5
SEPTIN8 septin 8
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC7A4 solute carrier family 7, member 4
SNAP29 synaptosomal-associated protein, 29kDa
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
SRF serum response factor (c-fos serum response element-binding transcription factor)
TANGO2 transport and golgi organization 2 homolog (Drosophila)
TBX1 T-box 1
THAP7 THAP domain containing 7
TNPO1 transportin 1
TP53 tumor protein p53
TRMT2A tRNA methyltransferase 2 homolog A (S. cerevisiae)
TSKS testis-specific serine kinase substrate
TSSK2 testis-specific serine kinase 2
TXNRD2 thioredoxin reductase 2
UFD1 ubiquitin recognition factor in ER associated degradation 1
VWF von Willebrand factor
XPO1 exportin 1
ZDHHC8 zinc finger, DHHC-type containing 8
ZNF74 zinc finger protein 74