8p23 1 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP5346.html
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Genes

54 proteins participating in the 8p23 1 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
AXIN1 axin 1
BLK BLK proto-oncogene, Src family tyrosine kinase
BMP1 bone morphogenetic protein 1
C8ORF74 chromosome 8 open reading frame 74
CGAS cyclic GMP-AMP synthase
CLDN23 claudin 23
CSTA cystatin A (stefin A)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSB cathepsin B
CTSD cathepsin D
DEFB134 defensin, beta 134
DEFB135 defensin, beta 135
DEFB136 defensin, beta 136
ERI1 exoribonuclease 1
FAM167A family with sequence similarity 167, member A
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FDFT1 farnesyl-diphosphate farnesyltransferase 1
GATA4 GATA binding protein 4
HEPACAM2 HEPACAM family member 2
HSPD1 heat shock 60kDa protein 1 (chaperonin)
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MCRS1 microspherule protein 1
MEPE matrix extracellular phosphoglycoprotein
MFHAS1 malignant fibrous histiocytoma amplified sequence 1
MSRA methionine sulfoxide reductase A
MTMR6 myotubularin related protein 6
MTMR7 myotubularin related protein 7
MTMR8 myotubularin related protein 8
MTMR9 myotubularin related protein 9
NEIL2 nei endonuclease VIII-like 2 (E. coli)
NKX6-1 NK6 homeobox 1
NUMA1 nuclear mitotic apparatus protein 1
PDX1 pancreatic and duodenal homeobox 1
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
PPP1R3B protein phosphatase 1, regulatory subunit 3B
PRSS51 protease, serine, 51
PRSS55 protease, serine, 55
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RP1L1 retinitis pigmentosa 1-like 1
S100A10 S100 calcium binding protein A10
SGPL1 sphingosine-1-phosphate lyase 1
SLBP stem-loop binding protein
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC35G5 solute carrier family 35, member G5
SOX7 SRY (sex determining region Y)-box 7
TBX5 T-box 5
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERT telomerase reverse transcriptase
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
XKR6 XK, Kell blood group complex subunit-related family, member 6