3q29 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP4906.html
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Genes

64 proteins participating in the 3q29 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ADAM10 ADAM metallopeptidase domain 10
BRINP1 bone morphogenetic protein/retinoic acid inducible neural-specific 1
CASP7 caspase 7, apoptosis-related cysteine peptidase
CEP19 centrosomal protein 19kDa
CEP350 centrosomal protein 350kDa
CEP43 centrosomal protein 43
DLG1 discs, large homolog 1 (Drosophila)
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2I1 dynein 2 intermediate chain 1
DYNC2I2 dynein 2 intermediate chain 2
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
DYNLL1 dynein, light chain, LC8-type 1
DYNLL2 dynein, light chain, LC8-type 2
DYNLRB1 dynein, light chain, roadblock-type 1
DYNLRB2 dynein, light chain, roadblock-type 2
DYNLT1 dynein, light chain, Tctex-type 1
DYNLT2B dynein light chain Tctex-type 2B
DYNLT3 dynein, light chain, Tctex-type 3
FBXO45 F-box protein 45
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FNDC8 fibronectin type III domain containing 8
GRIA1 glutamate receptor, ionotropic, AMPA 1
H2BC21 H2B clustered histone 21
HAMP hepcidin antimicrobial peptide
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
JUN jun proto-oncogene
MAD2L1BP MAD2L1 binding protein
MCRS1 microspherule protein 1
MELTF melanotransferrin
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NCBP1 nuclear cap binding protein subunit 1, 80kDa
NCBP2 nuclear cap binding protein subunit 2, 20kDa
NF2 neurofibromin 2 (merlin)
NRROS negative regulator of reactive oxygen species
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIGX phosphatidylinositol glycan anchor biosynthesis, class X
PIGZ phosphatidylinositol glycan anchor biosynthesis, class Z
PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma)
PXN paxillin
RABL2A RAB, member of RAS oncogene family-like 2A
RABL2B RAB, member of RAS oncogene family-like 2B
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
SENP5 SUMO1/sentrin specific peptidase 5
SIRT1 sirtuin 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC51A solute carrier family 51, alpha subunit
SLC51B solute carrier family 51, beta subunit
SMCO1 single-pass membrane protein with coiled-coil domains 1
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TF transferrin
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TM4SF19 transmembrane 4 L six family member 19
UBE2N ubiquitin-conjugating enzyme E2N
UBXN7 UBX domain protein 7
WDR53 WD repeat domain 53
ZDHHC19 zinc finger, DHHC-type containing 19
ZNF76 zinc finger protein 76