17q12 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP5287.html
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Genes

100 proteins participating in the 17q12 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
AATF apoptosis antagonizing transcription factor
ACACA acetyl-CoA carboxylase alpha
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARHGAP23 Rho GTPase activating protein 23
ARL5C ADP-ribosylation factor-like 5C
ASIC2 acid sensing (proton gated) ion channel 2
C17ORF78 chromosome 17 open reading frame 78
C17ORF98 chromosome 17 open reading frame 98
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CCL1 chemokine (C-C motif) ligand 1
CCL11 chemokine (C-C motif) ligand 11
CCL13 chemokine (C-C motif) ligand 13
CCL14 chemokine (C-C motif) ligand 14
CCL15 chemokine (C-C motif) ligand 15
CCL16 chemokine (C-C motif) ligand 16
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL2 chemokine (C-C motif) ligand 2
CCL3 chemokine (C-C motif) ligand 3
CCL3L1 chemokine (C-C motif) ligand 3-like 1
CCL3L3 chemokine (C-C motif) ligand 3-like 3
CCL4 chemokine (C-C motif) ligand 4
CCL4L1 chemokine (C-C motif) ligand 4-like 1
CCL4L2 chemokine (C-C motif) ligand 4-like 2
CCL5 chemokine (C-C motif) ligand 5
CCL7 chemokine (C-C motif) ligand 7
CCL8 chemokine (C-C motif) ligand 8
CCT6B chaperonin containing TCP1, subunit 6B (zeta 2)
CDK12 cyclin-dependent kinase 12
CISD3 CDGSH iron sulfur domain 3
CWC25 CWC25 spliceosome-associated protein homolog (S. cerevisiae)
DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52
DHRS11 dehydrogenase/reductase (SDR family) member 11
DUSP14 dual specificity phosphatase 14
EPOP elongin BC and polycomb repressive complex 2 associated protein
ERBB2 erb-b2 receptor tyrosine kinase 2
FBXL20 F-box and leucine-rich repeat protein 20
FBXO47 F-box protein 47
FNDC8 fibronectin type III domain containing 8
GAS2L2 growth arrest-specific 2 like 2
GGNBP2 gametogenetin binding protein 2
GPR179 G protein-coupled receptor 179
GRB7 growth factor receptor-bound protein 7
HEATR9 HEAT repeat containing 9
HNF1B HNF1 homeobox B
IKZF3 IKAROS family zinc finger 3 (Aiolos)
LASP1 LIM and SH3 protein 1
LHX1 LIM homeobox 1
LIG3 ligase III, DNA, ATP-dependent
LOC102724862 TBC1 domain family member-like
LYZL6 lysozyme-like 6
MED1 mediator complex subunit 1
MIEN1 migration and invasion enhancer 1
MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6
MMP28 matrix metallopeptidase 28
MRM1 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)
MRPL45 mitochondrial ribosomal protein L45
MYO19 myosin XIX
NEUROD2 neuronal differentiation 2
NLE1 notchless homolog 1 (Drosophila)
PCGF2 polycomb group ring finger 2
PEX12 peroxisomal biogenesis factor 12
PGAP3 post-GPI attachment to proteins 3
PGBDF plakoglobin binding and degradation factor
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta
PLXDC1 plexin domain containing 1
PNMT phenylethanolamine N-methyltransferase
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B
RAD51D RAD51 paralog D
RASL10B RAS-like, family 10, member B
RDM1 RAD52 motif containing 1
RFFL ring finger and FYVE-like domain containing E3 ubiquitin protein ligase
RPL23 ribosomal protein L23
SLC35G3 solute carrier family 35, member G3
SLFN11 schlafen family member 11
SLFN12 schlafen family member 12
SLFN13 schlafen family member 13
SLFN14 schlafen family member 14
SLFN5 schlafen family member 5
SOCS7 suppressor of cytokine signaling 7
SRCIN1 SRC kinase signaling inhibitor 1
STAC2 SH3 and cysteine rich domain 2
STARD3 StAR-related lipid transfer (START) domain containing 3
SYNRG synergin, gamma
TADA2A transcriptional adaptor 2A
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TBC1D3 TBC1 domain family, member 3
TBC1D3B TBC1 domain family, member 3B
TBC1D3C TBC1 domain family, member 3C
TBC1D3E TBC1 domain family member 3E
TBC1D3G TBC1 domain family member 3G
TBC1D3H TBC1 domain family, member 3H
TBC1D3K TBC1 domain family, member 3K
TBC1D3L TBC1 domain family, member 3L
TCAP titin-cap
TEC tec protein tyrosine kinase
TMEM132E transmembrane protein 132E
UNC45B unc-45 homolog B (C. elegans)
ZNF830 zinc finger protein 830
ZNHIT3 zinc finger, HIT-type containing 3